Friday, 17 February 2017

Breast Cancer Checks

teddy: hello, everyone. thank you for joiningus once again for another preconception peereducators program webinar. my name is teddy owusu.i'm the program coordinator. today we are joinedby dr. lori wilson, howard university hospitaland college of medicine surgical oncologist and surgeryresidency program director. she's also abreast cancer survivor who's had two different typesof invasive breast cancer,

one in each breast. her breast cancer story iscaptured on film in the documentary, cancer:the emperor of all maladies. today we're going to dosomething a little different. we'll show bits of thevideo from the documentary. so just to let you all know, you can only hearthe audio from the video through your computer speakers. if you're on the phone line,you won't be able to hear.

that doesn'tmean the (inaudible). it's just only oncomputer can you hear. following dr.wilson's presentation, we will hearfrom nicole thompson, who's a genetic counselor athoward university cancer center, where she helpsindividuals and families make importantdecisions about their health based on theirgenetic information. nicole is alsoinvolved in genetic research

and specializes inidentifying and providing genetic services in minorityand underserved populations, specifically regarding cancer,as well as sickle-cell trait. thank you, ladies,both, for joining us. today we willbegin with dr. wilson. but before we get into that, please note thatall lines are on mute. questions will be answeredfollowing the presentations. we'll have about10 minutes for q&a.

and without further ado, we will go ahead andhear from dr. wilson. dr. wilson: okay.thank you so much. and thank youfor the opportunity. i always like tohave the opportunity to discuss breast cancer, but i think this is a perfectopportunity to really begin to think about breastcancer and how it is a part of exploringdetection to diagnosis

and how importantit is to understand everyone who'simpacted by breast cancer. i just want tostart off by giving you a bit of backgroundon the breast anatomy. when we thinkabout breast cancer, it's important toreally think about the breast and that it's an entitythat has multiple areas that are importantin breast cancer. when we think aboutthe healthy breast,

we think about areassuch as the duct (inaudible) lead from thenipple to the lobules, and the lobules inwomen who are after pregnancy are where milk is formed. and those are the basic twoareas that breast cancer occur. the duct, being the mostcommon type of breast cancer, which is an invasive ductal, and the lobule beingthe second most common, an invasive lobule.

and this is just apicture of a front view that sort of gives you aperspective of how many ducts, actually, there are. there's somewherebetween 10 and 15 ducts that come down to the nipple. so it's not just oneduct from the nipple. and it goes to the lobules. the breast isalso filled with fat. so anywhere there isn'ta breast tissue structure,

there's fat thatsort of fills that space. and then in the underarmor what we call the axilla, there are lymph nodes. and lymph nodes are small organs that sit underneaththe fat in the underarm. and they sort ofact like filters. you can sort of seethat they're channels, and they'reconnected to the breast. and basically, any fluid thatsort of comes from the breast

goes through theselymph nodes and gets filtered before it goes tothe rest of the body. and it's important toknow about these lymph nodes because lymph nodes area potential area of spread for breast cancer, and we actually have developeda technique that allows us to figure out if there isspread to the lymph nodes, as well as spread tothe rest of the body. the ducts and thelobules are important

in the overallconstant change that occurs. the breast and the breasttissue are constantly changing as we go through the spectrumof reproductive health, whether it'spuberty, a menstrual cycle, pregnancy or menopause, menopause being when the ovariesstop making a generous amount of hormones thataffect not only the uterus, but also the breast. menstrual cycle -- of course,

when young womenstart their period. and it's important toknow about that timing because anytime ayoung woman has a period that startsbefore the age of 11, it increases their risk. and so much of whatwe do in breast cancer is looking at the riskfactors that go along with it. i don't ever want to neglectincluding the self breast exam. self breast exam issuch an important part

of knowing your bodyand knowing your breasts. i know that thereare definite things that you want to get accomplishedfrom a self breast exam, and using the pads ofthe first three fingers in a circular manner orin an up-and-down manner, you're going tolook for size, symmetry, shape of any abnormality. you're also going tolook at the skin color, make sure thatthere's no changes,

texture, surface appearance, and what does thenipple look like. changes that canoccur that are normal -- tenderness, of course, especially arounda reproductive time such as going throughyour cyclic hormonal changes as it relates to the menstrualcycle or during pregnancy. lumpy bumpiness -- that really is more aboutthe amounts of breast tissue.

when women are younger,they have more breast tissue. as they get olderand toward menopause, much of the breasttissue sort of shrinks and you get morefat in the breast. and so you gofrom a lumpy texture to a less lumpy, softer texture. and breasts may getlarger or more firm. the things that we worry about and that i worryabout as a surgeon

is when a patient comes to me and they talk to meabout that there's a new lump that they found. and it's important tonote that not every lump is a cancer, butsomething that's new is something thatdraws our attention. something that ishard, single, firm. and most often it is painless. there's unusual swelling, warmthor redness of the breast,

unusual increase inthe size or the shape of one of the breasts, or that there's some dimplingor puckering of the skin. those are all warning signs. in addition tothat, we should know that eight out of every tenbreast lumps are benign, which means that they arenot cancer. they're harmless. but it's difficult, oftentimes,to distinguish which is benign and which is harmless,and that which is cancer.

and so it is usually importantfor any identified breast lump to have some level of evaluationby a health care professional. the things that welook at, of course, are all the factors that gointo the reproductive health, the risk factors, as wellas a physical examination of the breast tissue. there are thingsthat we see that are definitely normal breasttissue and normal changes such as fibroadenoma,

found in younger,reproductively active women. fibrocysticdisease is that lumpy, bumpy texture of the breastthat is absolutely normal. cysts can befound in the breast, and it's a collection offluid. you can see it here. it oftentimescan go up and down, and the body canreabsorb this fluid. and it's just typicallychanges that are stimulated by hormonal shiftsthat come from the ovary.

nipple discharge can occur. and then, of course, the thingsthat we worry about mostly is cancer. it's importantfor us to know that breast cancers occur at apretty significant number in the united states. when we look at the estimatednumber of cancers in 2015, 231,840 women are estimated tobe diagnosed with breast cancer, and we also haveto be thoughtful

that breast cancerdoesn't just occur in women, that it also occurs in men. and so about 1 percent -- and that would beabout 2,350 men affected. and when we thinkabout breast cancer deaths, we still know thatbreast cancer can -- we know that breastcancer can be cured, but there are patientsthat do succumb to the disease, and we typically thinkabout 30,000 women per year

and close to 450 men per year. i think it'simportant to also look at how breast cancer haschanged in other ethnicities. one of the most recentdata points that have occurred, especially withafrican american women, is that the number ofnew cases actually has risen to the same incidencein african american women as in white women. andthat is something that is new, which means thatthere are more cases.

and so it's pretty significant. when we look atthe most recent data in african american patients, we see about 27,000 womenwho were diagnosed in 2013, and about 6,000 of those womendied from the disease in 2013. and i think i'dlike to stop here. and i want to takea look at the video. i think it's soimportant that breast cancer isn't just a number,that it is about making sure

that we understand thatpatients come with history and family and support, and that surgicaloncology and breast surgery is an important partof the care of women. teddy: okay, dr. wilson, iwill be uploading the video. let me know if you can see it.dr. wilson: okay. teddy: can you see the video? dr. wilson: i can't. teddy: you cannot?

teddy: how about you,nicole? can you see the video? thompson: i can. dr. wilson: -- in someone's life that actuallycould save their life, and that by far, ithought, was one of the most dramatic thingsabout surgical oncology. narrator: dr. wilsonspecializes in breast cancer, in research as wellas in her practice. dr. wilson: rightnow, the important thing

is to make sure thatyou are feeling well and that you're doing well.female: i'm excited. dr. wilson: you'reexcited and you're nervous, and i know that we cando that to you. [laughing] [melancholy music swells] female: deep breaths. dr. wilson: whenever we knowthat cancer is the diagnosis, we always want to makesure that we give all sides, and that you may not be cured,

and that your cancer couldprogress to something that could end your life. dr. wilson: -- lastcouple of weeks, that's fine. [heart monitor beeping] [music fades] teddy: okay, dr.wilson, back to you. dr. wilson: okay, great. and so when welook at breast cancer, it's important to knowthat the lifetime risk of women

is about 12 percent,so one in eight women will develop breastcancer in her lifetime. breast cancer typicallyis the disease of women who are post-menopausal, so after theirperiods have stopped. and the average agein most all comers [ph.] is about 61 years old. when we look atafrican american women, they actually arediagnosed a bit earlier,

around age 57 or 58. i think theimportant thing to underscore is that breastcancer is curable, and we havefrom nci estimates approximately 3.1 million breastcancer survivors in 2014, which is great news, i think. it's important to know it's the second mostcommon cause of death. it's the main cause ofdeath in women 45 to 55,

and 50 percent of casesrelate to known risk factors. however, only 10 percent areassociated with family history. when we thinkabout risk factors, and nicole willtalk in more detail, but i think wheni think about it, i think about that genderis the most important thing. being a woman's thenumber one risk factor. and then age. the risk of developing breastcancer increases with age.

and when we think aboutwhen most women are diagnosed, they're over the age of 50, and that's aboutthree-quarters of patients. it's important toknow the demographics. ethnicity, kindof where you are, what other factors goalong with who you are and what you bring to yourhistory and your family history. your reproductive history. your environmentalfactors are also important.

so really, we'retalking about gender. we're talking about age. we're talkingabout whether you've had a breast biopsy in thepast that has been atypical. things such as family history, personal history of breastcancer, your reproductive risk, when you've had children. if you've not had childrenalso changes your risk. obesity. we know thatphysical inactivity, alcohol

and exposure to radiationalso increase your risk. and when we thinkabout breast cancer, we think about, whatare the tools that we have? and right now,there's a big shift to, when should these tools be usedfor evaluating breast cancer? and the true key iswhether a woman is normal risk. and normal risk arewomen that don't have a significant numberof these risk factors that increase the likelihoodthat they're going to develop

breast cancer. we havea way of looking at that. when we find women whoare under the age of 30 that have a new breast lump, we typically use whatwe see on the right side, and that's ultrasound. andthat's a picture of ultrasound. and on the left,we use mammogram. and mammogramreally is a breast x-ray. it's the single mosteffective way of detecting the earlieststages of breast cancer

in women greaterthan 35 years old. as women age, aswe talked about, they have morefat in their breasts, and so mammographygets better as we age. and it can uncover unexpectedproblems without symptoms, and that really is the key. some pressure is neededto get the best picture and the clearest picture, and so many women find thatthere is some pain or discomfort

that goes along with it.but usually that's short-lived. and why is it important? because before mammography, whenwe think about mammography, it really sort of gotushered in '70s to '80s. before that, women werepresenting with breast cancers that were as bigas five centimeters. when we look atbreast cancers today, if someone presentswith something that's five centimeters, they're ina later stage of breast cancer.

most had lymph node metastasis, which means thatyou're in a later stage, and the five-year survival atthat time was about 58 percent. and so mammographyreally changed the way we dealt withidentifying those changes. and so when ismammography needed? it's needed when weneed to check a mass, to check a breast change. every year over the age of 45 toscreen when you're normal risk

and even younger if youhave a strong family history or some genetic changesthat make you more at risk. i think that thisis a good example of what patients often ask me. "well, what doesbreast cancer look like?" so this area, the white areain the right lower picture, is what a breastcancer looks like. there is aspectrum of breast cancer, whether we're talking aboutthe initial normal cells --

you see that there's one layer. it sort of goes around the duct. as things get more abnormal, you see a loss ofthat normal anatomy. and then when you get downto invasive breast cancer, you see that it actuallygoes across that membrane that normally holdseverything in place. how do we findout more about it? we use what wecall needle biopsies,

and needle biopsies help usto not have to go to surgery, so we take a sample of it, and we look at itunder the microscope. if a breast lump comesback as a breast cancer, then we may need tomove on to lumpectomy, and lumpectomy is removalof the breast cancer itself with a normal-appearingbreast tissue around it. our goal is to performit in the operating room and let women go home.

the vast majority of patients can havebreast-conserving therapy, but in a smallnumber of patients we need to removethe entire breast, and that is called a mastectomy. however, when we dothat, we want to make sure that we reconstruct thebreast at the same time, if possible, and wecan do that with tissue from the patient or implants,

which are made ofsaltwater or silicone. and this is just anexample of, in the center, what a normal breastslide would look like. this is sort of a lobule. these are littleducts and lobules. and this is the duct here. and you can see herethis is actually a duct that's filled with anon-invasive breast cancer. it hasn't brokenthrough that wall there.

and then here is aninvasive breast cancer, and you notice it loses allof its normal architecture. ultimately, we lookat the tumor markers to tell us about howaggressive the tumor is, and we also look at theedges to make sure that the edges aroundthe breast cancer are free of cancer sothat women don't have to worry about it comingback in the same place. an importanttechnique was developed

called sentinellymph node biopsy. its goal is toidentify those lymph nodes we talked aboutunderneath the arm to make sure thatthere's no evidence of spread. so we inject a blue dye, and then thisactually is a lymph node that has taken up that blue dye, and what we find is thatthe lymph nodes actually in their normal anatomy

will take up blue dye sortof in a sequential fashion, so one will take it up first, and that, of course, isthe sentinel lymph node, followed by the others. and so we removeone or two lymph nodes that are thefirst-draining lymph nodes. and our goal, ofcourse, is to make sure that we are able tokeep breast cancers from metastasizing, whichmeans leaving the breast tissue

and going otherplaces like the lymph nodes or distantly to the body. our five-yearsurvival rate in stage 1, which means a verysmall breast cancer just found in the breast, is about 96 percent. stage 2 is aslightly larger breast cancer with typically nofindings in the lymph nodes. stage 3 isusually a breast cancer

that's either alarger breast cancer or a breast cancerthat is a moderate size but also has goneto the lymph nodes. and then stage 4 meansthat it's gone to other places outside of the lymph nodes,to other parts of the body, whether it's bone,liver, lung or brain. and when we look aboutthese five-year survivals, we think about survival insort of five-year increments, and so at the end of five years,

96 percent of stage1 patients are alive. at the end of five years, 82percent that have been diagnosed -- at the end of fiveyears, 53 percent of stage 3, and the end of fiveyears after diagnosis, stage 4 patients, about5 to 18 percent of them are going to survive. and so it is soincredibly important that we diagnosebreast cancers early so that we canidentify those patients

and get themstarted on treatment so that they can havethe best possible outcome. and surgery is not theonly thing that we use. we work in amultidisciplinary team to work toward breast cancernot coming back in the breast or not coming backin the whole body. and so there areother treatments that aretailored to the patient. radiation therapyworks directly on the breast

and reduces its risk of itcoming back in the breast. chemotherapytreats the whole body, and not everypatient gets chemotherapy, but those women whohave breast cancers that prove to be more aggressivetypically get chemotherapy. hormonal agents,which means a medication that blocks theeffects of hormones -- because what we find isthat hormones like estrogen, progesterone,increase the likelihood of

breast cancer cells growing. andso we block those mechanisms. and each therapyadds to the reduction of disease coming back, and so they typically work inconjunction in reducing risk. is it possible forus to make an impact? there is. there arethings that we can't change: gender, age,those sorts of things. but making sure thatwe eat healthy diets that are lower in fats,

that we try to keep our weightinto normal weight range, that we are physically active -- the current recommendation is150 minutes of moderate activity per week, and you can split thatup in any way you'd like, or 75 minutes of reallyvigorous activity per week -- and reducing anyexposure to radiation. and i never wantto neglect saying, the most important thingis really talking about it.

being well-informed,asking questions if diagnosed, making sure that you knowall the risk and benefits -- how are the therapies, and how should they beindividualized and tailored for that personwho has the diagnosis? it's important forus to know the context. where patients come -- you know, what support systemsand what their goals are. and then it's a collaboration.

from our perspective, our team typicallyworks with our patients to understand what their goalsare, making recommendations and tailoringthe treatment plan. and so i think thisis a good time for us to see the second videofrom emperor of all maladies. teddy: okay. narrator: the followingprogram contains mature content which may not besuitable for all audiences.

viewer discretion is advised. dr. wilson: tommy [ph.]? narrator: tonight, on cancer:the emperor of all maladies -- female: forty-three minutes? [birds singing] [laughter] lori: at least he tasted it. lori's husband: you're afunny boy. you know that? lori: mommy likes cherries.

narrator: it's been a monthsince lori's diagnosis, and her 20-week regimenof chemotherapy has begun. lori: yum, yum,yum, yum. i got you. [laughing] yes. lori's husband: my wife, lori. male: hey, how youdoing? nice to meet you. lori: my husband actually isgoing to shave his head with me, and so we will --until my hair grows back,

we'll both be bald together. [razor buzzing] he's my rock. he's been there for everything. female: he's looking good. lori's husband: you all forgeti've been bald-headed before. twenty years ago. yeah, before loriand i got together, in the first winterwhen i grew my hair,

and then lori liked my hair,and i haven't shaved it since. male: aww, what a story. female: isn't that sweet? male: so cute. [cheering and applause] female: you cantake it all (inaudible). lori's husband: you okay?lori: it'll be okay. [gentle piano music] lori: i don't buyinto the, "why me?"

because so much ofcancer is not predictable. it is not set on familyhistory or any feature, and soabsolutely it could be me. lori: hey, hey, hey.you recognize mommy? [baby coos] lori: i have a 19-month-old, andi want to see my son grow up. see my son get married and goto grad school and, you know, all the good stuffthat we expect for family. and with this diagnosis, that'sa more difficult thing to see.

dr. wilson: am i back? teddy: dr. wilson? dr. wilson: yes.okay. so -- yes. as you see, i'm abreast cancer survivor, and my story is astory like so many women. in 2013, i wasdiagnosed with breast cancer. it was differentbecause i was diagnosed with two differenttypes of breast cancer in two different breasts

and went throughaggressive treatment, which included chemotherapyand radiation and surgery. and i'm verypassionate about the need for additional research,additional treatments, additional screenings. what we know about ourpatient populations that we see is that breast cancercan be a different cancer in some ethnicities, and what we do knowabout breast cancer

is that it's curable. however, we need to find itearly to make a difference. and so hopefully byseeing some of the clips that we showed today, it makes it more than just adiagnosis that you heard about, and hopefullythat's something that we can have asignificant impact, especially in thenext several years. so i think that iwill wrap up there

and give nicole thompson an opportunity totalk to you guys, too. teddy: okay. and thankyou all for bearing with us. this is ourfirst time doing video during one of these webinars,so sorry for the audio issues. but wheneveryou're ready, nicole, we're waiting and listening. thompson: all righty. okay, can youall see everything?

teddy: it looks good. thompson: all right. all right. thank you all somuch for having me, and thank you, dr.wilson, for sharing your story. and i just want tobring in the perspective of genetic counseling when it comes to adiagnosis of breast cancer. so i just want to share, youknow, the knowledge that i have with all of you, sowhat you should know

and what you shouldalso share with others. and so what isgenetic counseling? a lot of people haven't reallyheard of genetic counseling unless they've had afamily member go through it or unless they've gonethrough it themselves. but genetic counselingis basically a process that helps people tounderstand and adapt to geneticdiseases and conditions. so what geneticcounselors do is,

we interpret familyhistories and medical histories from a person todetermine if they have a chance of developing adisease or a higher chance of a disease recurring or comingback in a different body part, such as cancer. we also educate abouthow diseases are inherited, what tests are available to determine if they actuallyhave a hereditary condition, how the condition can bemanaged, even prevented,

and then also whatresources are available and even researchstudies or opportunities. and then we also counsel to promoteinformed decision-making, so we try to take all ofthe pieces of the puzzle and bring them together tohelp the patient figure out what they shouldactually do as far as managing their hereditarycancer syndrome. so genetic counselors --

we play a role inmany different arenas, primarily, as we're going totalk about today, in cancer, where we identify individuals who havehereditary cancer syndromes, which we'll talk more about. we also are in prenatal,where we're talking with women and husbands and wives whomay be carriers for conditions, like may be carriersof sickle-cell trait and want to know if their childmight have sickle-cell disease.

we also work inpediatrics with children who are very sick and they'vehad every single test available, and genetic sometimesis the last on the list, but it's able to figureout what's actually causing the condition for the child. and then the same forcardiology, neurology, adult-onsetpharmacogenetics, which is a very newarea, and then reproductive, such as in vitrofertilization or ivf.

and so aboutgenetic counselors -- we're employed at mostcancer centers nationwide. we're becoming a veryintegral part of the team, providing resourcesthat could definitely change a patient's management of care if we find out that theydo have a genetic mutation, and we also serve aseducators in the community. genetic counseling isalso becoming standard of care for any patientwho meets criteria

for counseling and testing,which we'll go over as well. and so who's referredfor genetic counseling? so if you have beendiagnosed with cancer, if you're diagnosed age50 or younger with cancer, you're definitely anappropriate candidate for geneticcounseling and genetic testing. anyone that's diagnosedwith ovarian cancer at any age, as ovarian cancer isa pretty rare cancer to be diagnosedwith for women --

they're good candidatesfor genetic counseling and testing as well. for anyone that's hadbilateral breast cancer -- so that's breastcancer in both breasts -- they're candidates. for anyone with rarecancers or rare tumors, they also are candidates, or anyone diagnosed withdifferent types of cancer -- so you may have beendiagnosed with breast cancer

and then diagnosed five yearslater with colon cancer -- or anyone that'sdiagnosed with cancer -- they could bediagnosed over age 50 but also have a familyhistory that also makes them a good candidate fortesting and counseling as well. and so if you have notbeen diagnosed with cancer but you do have a familyhistory of the following, then you also wouldbe a good candidate. so if you havenot been diagnosed,

but say your mother wasdiagnosed at 50 or younger, or you have a sister oran aunt with ovarian cancer, or someone in yourfamily has had breast cancer in both breasts or rare tumors or diagnosed with manydifferent types of cancers, then that would alsomake you a candidate for counselingand testing as well. and so these arejust some guidelines that we follow in oncology.

it's the national comprehensivecancer network's guidelines. so if anyindividual across the board just meets this criteria, then this is how aphysician would know that, okay, this patient should besent in for genetic counseling and genetic testing tofigure out if their cancer is due to a syndrome or if it'ssomething that's hereditary. and so what happens during thegenetic counseling sessions -- so the first thing we do is, wetalk about your health history.

we talk abouteverything, you know. were you diagnosed with cancer?when were you diagnosed? do you have anyother medical conditions? when was your last mammogram? have you ever had a colonoscopyor any colon polyps removed? have you had any surgeries? we try to get areally good picture of what's going on forthe person medically. and then next after that, wetalk about their family history.

family history is extremelyimportant when it comes to genetic counselingand genetic testing, because we're all directlyrelated to our relatives through our genes, so if we have family membersthat have certain conditions, then there's a higherchance that we could also have that same condition. so we try to get threegenerations of relatives, so starting with the individual

and working our wayup or our way down, and we try to findout who's been diagnosed on their mother's side orfather's side, at what age and then withwhat type of cancer. and so this is an exampleof a pedigree or family tree, as we call it, and wehave to get both sides, the maternal sideand the paternal side. so maternal ismother, paternal is father. and so squares are menand then circles are women.

so this arrowhere is pointing to -- let's say that's our patient. so he has two sisters here. this would be his father, so his father'sside here in this blue. so this would be his father'sbrother, his father's sister. this would be someof his cousins here. this would be hispaternal grandparents. and then here's his mother.here is his mother's sister.

and here his mother had ason with a different father. and then here arehis mother's parents. so we try to getthree generations. so here's the firstgeneration with the patient, and then here arehis parents' generation, and then here arehis grandparents, which is the third generation. and this helps usto see how cancer is travelingthroughout the family,

whether it's comingfrom the mother's side or from the father's side. and so what causeshereditary cancers? so it's actually somethingthat happens in our genes. so it's important to notethat the majority of cancers, about 70 percent ofcancers, are sporadic. they are just random.they happen by chance. the older we get, thehigher our chances are of developing cancer.

then the next-biggest part ofcancers are familial cancers. and that's when we seemore cancer in a family than we should. and that could befor a host of reasons, where maybe family membersare living to be much older or environmentalor lifestyle factors. so if a family memberor lots of family members have worked in coalmines or have been exposed to some type ofchemical or radiation

or are heavy smokersor heavy drinkers, there may bedifferent kinds of cancers popping up in the family. so it may look like there's astrong family history of cancer, but it's notnecessarily hereditary. and then the smallestpieces of cancers are, about 5 to 10 percent ofcancers can be hereditary. so that's where you're just born with a higher chance todevelop cancer than anyone else

because of somethinggoing on in your genes. and so just a quick geneticslesson or biology lesson -- this here is apicture of a cell. and we have tons ofcells in our bodies. we have skin cells, bonecells, blood cells, hair cells, all types of cells. and inside thosecells is where you're going to find chromosomes. and chromosomes arepretty much the instructions

to make us who are. so you get 23chromosomes from your mother. you get 23chromosomes from your father. and when they come together tomake us, we get 46 chromosomes. so these chromosomes -- theycontain all of the information to make sure that we can see,hear, have two arms, two legs, and if you were tounravel these chromosomes, that's where you'regoing to find genes. and every single gene has aresponsibility or has a job.

so some genes areresponsible for seeing. some genes are responsiblefor heart development. and some genes areactually responsible for protecting us from cancer. and so genes work bythese letters here called dna, which is a, c, t, g. a, c, t, g. so every single gene hasa very specific dna code in order for that gene to work. so if just one ofthese dna letters is changed

or out of place orduplicated or deleted, it could cause thatgene to no longer work. so if it's a gene thatprotects us from getting cancer and one of these dnaletters is misplaced, then that gene is nolonger able to function the way that it normally would, which would increaseour risk of getting cancer. and so we pretty much justtalked about what a gene is, but let's say a gene ispretty much like a recipe.

so just like a recipetells you how to bake a cake, a gene tells your bodyhow your body should perform or how variousfunctions should perform. so a mutation is a changeor an error in the recipe. so imagine if we put one cupof baking soda into our recipe instead of one tablespoon ofbaking soda into our recipe. the cake may not comeout the way that it should, and the same thing can happenwith genes or genetic mutations. and so we're going totalk a little bit about

the brca gene mutations, which is probably the mostheard-of genetic mutation, brca gene. and so this is an exampleof how mutations can occur. so let's say for instancethis is the brca-1 gene and this isthe brca-2 gene. brca stands forbreast cancer gene 1, and then the breastcancer gene number 2. and so let's say this here isthe genetic code that's needed

in order for thebrca-1 gene to work. and let's say this is the code that's needed forthe brca-2 gene to work. what can happen is, these two ts here canbe completely deleted. and that'sconsidered a gene mutation. so now this genethat usually protects us from getting breastcancer is no longer working. or what can happen inbrca-2 is that this tta here

has been picked up andmoved to the very end, so this is alsoconsidered a mutation, and this may cause thebrca-2 gene to no longer work. and so the brca-1and brca-2 genes -- we all have these genes. so i'll often hearpeople say, you know, "do i have the gene?do i have the gene?" we all have the gene. the genes areprotecting us from cancer.

but the issue is,is the gene working? so these genes are inevery single cell of our body. they're inside ofour bodies from birth. they work to protectus from certain cancers, and those cancers are breast,ovarian, prostate cancer for men and then pancreaticcancers for men and women. and so if someone has a mutationin brca-1 or in brca-2, they have a syndrome called hereditary breast andovarian cancer syndrome,

which means thatthey have a higher chance to develop breastcancer or ovarian cancer or any of the others. so some of the mainfeatures that i see when someonecomes into the clinic for me to determine if theyactually need genetic testing is that they'll havetriple-negative breast cancer, which is a very aggressivetype of breast cancer. that's the tnbc.

or breast cancerdiagnosed age 50 or younger. or they may have ovarian cancer. i've even had men with breastcancer. that is possible. pancreatic cancer, or someone that's ofashkenazi jewish ancestry that the populationhas a higher chance of having a genetic mutation. brca genes, gene mutations, areactually autosomal-dominant, so what that means is that ifsomeone carries a brca mutation,

there's a 50 percent chancethat they could pass it down to their child, and that means thatthey've inherited it from their motheror from their father. and so now we're goingto talk about a few myths in regards to genetic testing. there are a lot of differentthings that people have heard or different thingsthat people believe that may notnecessarily be true regarding

genetic counselingand genetic testing. so one of those is that cancerruns on my father's side, so there's nothingthat i should worry about. which isn't necessarily true. so because it's aautosomal-dominant condition, it can be inherited frommother or father's side. so these purple-looking stickshere -- these are chromosomes. and this is a close-up viewof what chromosomes look like in all of our cells.

and so we have 23 pairs.we get one from our mother, and we get one from our father. so if we're looking hereand we assume that this here is a brca gene, it says herethat the father is affected. so this purple area isconsidered a gene mutation. this orange area is consideredthe gene that's working. so the mother --she's unaffected. so for every singlepregnancy that they have, there's a 50 percent chancethat it could be passed down.

but the only way to know forsure is to actually be tested. so it shows herethat in this instance, there's a 50 percent chancethat he could pass this down. so he could pass downthe one that has a mutation or the one that does not. so to thischild, he's passed down the one that has a mutation.so this child is affected. for this child, hepassed down this one. for this child, he passeddown the one that's unaffected.

and then for this child, he passed down theone that is affected. for the mother, it doesn'tmatter which she passes down, because both ofthem are working. so this shows that you canactually inherit mutations from your father'sside of the family. so if your father has had cancer or his sisters orbrothers have had cancer, it still is significant for you.

and then this isjust explaining, again, male breast canceris definitely something that should bethought of when we're talking about genetic mutations, specifically in thebrca-1 or brca-2 genes. another myth is that,"i already had cancer, so i don't actuallyneed genetic testing." which isn'tnecessarily always true. so this is a chart explainingthe different types of cancers

and who could actuallyhave a higher risk of cancer. so if someone hashad breast cancer, and they actuallyhave a brca-1 mutation, their chance to get breastcancer is between 50 percent to 80 percent. or, if they havea brca-2 mutation, it's between 40percent to 70 percent, when the general populationis only at 12 percent. so their risks are much higher.

but if they've had breast cancer and they alsohave a gene mutation, there's a higherchance that they can have a second breast canceror even ovarian cancer. and their risks varydepending on which gene has actually mutated. so you may have beendiagnosed with breast cancer and been treated, but ifyou have a gene mutation, there could be arisk for a second cancer.

so that myth is actually busted. just becauseyou've been diagnosed, that does not mean that youno longer need stringing [ph.] or testing. and so some of thepossible test result outcomes that you can have if youactually undergo genetic testing is, a result could be negative,and that means that everything is looking great inthose genes that were tested, that you don't have thathereditary cancer syndrome.

however, we do know nowthat there are other genes that areincreasing the risk of cancer besides brca-1 and brca-2. so it could bein some other gene that wasn't a part ofthat particular test. there are also things called variants ofuncertain significance. so that's a uniquechange that each of us may have in our genes,

and it's not yet known whatthat change actually means. and then the third could bethat it's actually positive, and that means ifthere is a genetic mutation in brca-1 or brca-2 thatit's increasing the risk for severaldifferent types of cancers. and if we findthat for one person, then we try to offertesting to the family members and to relativesbecause they could also carry that same mutation.

and if they have notbeen diagnosed with cancer, having this informationahead of time could, just as dr. wilson was saying, lead to an early diagnosis, where we know that theoutcomes are much better. and so this is anexample of a test result for someone thatactually comes back positive for a genetic mutation. and if we find outwhere that exact mutation is,

then we can then test the familyfor that same exact mutation. and so some may say, you know, "i don't want to know, becausethere's nothing that i can do. why find out if ihave a genetic mutation if there's nothingthat i can do about it?" and there actuallyare options available if we find out that youactually have a mutation. so one is more frequentand earlier screenings. so if we findout that someone has

a predispositionto colon cancer, then we can thenoffer a colonoscopy at a muchearlier age than waiting until 40 or 50 years old, and they can havetheir colon polyps removed, or even if we findout that someone is at an increasedrisk for breast cancer, they can have mammogramsor mris done more frequently and at earlier ages.

we can also consider theoption of bilateral mastectomy or oophorectomy. some women who actually arenewly diagnosed with cancer and find out that theyhave a genetic mutation and have a high chancefor a second breast cancer or for ovarian cancer -- this may also be anoption for them as well, in addition to theoption of reconstruction. and then also, there's theoption to take certain types

of medications which havebeen shown to reduce the risk of breast and ovariancancer by 50 percent or more. and then, should youdiscuss these results with your familymembers? absolutely. genetic information isnot specific for one person. it actually impactsthe whole entire family. and so what if youdidn't test positive? that's excellent news. so that means that theresults will be negative,

where you have notinherited a genetic mutation, or it could be a variantof uncertain significance, which is where we don'thave a lot of information about thatparticular change at this time. but research is ongoing, andthe labs are constantly working to reclassify these variants. and the majority of people thatcome in for genetic testing will actuallyhave a negative result or will have a variantof uncertain significance.

but now that genetictesting is progressing, we do know thatthere are other genes that increasethe risk of cancer. and so how do you know ifyour genes aren't working? so these are some thingsthat you can consider, is if you or any ofyour family members were diagnosed withbreast cancer before age 50, if you or your family members have been diagnosedwith ovarian cancer,

if you have any relativeswith male breast cancer or if you or any ofyour family members were diagnosed withmore than one breast cancer or breast and pancreaticor breast and thyroid or breast and any other cancer. or, do you havetwo or more relatives on the same side of thefamily with breast cancer, that were diagnosed beforeor after age 50, either/or? are you ofashkenazi jewish ancestry?

or is there a known geneticmutation in your family? if there's a knownmutation in your family, then that automaticallymakes you a great candidate for testing to findout if you have a risk of developing canceras well, a higher risk. and so we know now that whenit comes to genetic mutations, there are several differenttypes of cancer that can happen from one gene mutation. you can have a gene mutationand have ovarian cancer.

another relative canhave that same mutation and have colon cancer. so now what's available-- what's new in genetics is that there are thesepanels that can be ordered. especially for individualswho have a family history of severaldifferent types of cancers, this panel willactually be most beneficial. so what this is showing here onthe left-hand side are genes. so all thesegenes here on this list

are genes that actually work toprotect us from getting cancer. so these here, the syndrome --this is the name of the syndrome that's associated with the gene. and then these hereare the types of cancer that are associated. so we have breastcancer, ovarian cancer, colon, endometrial, which is uterine,melanoma, which is skin cancer, pancreatic, gastric, prostateand then other cancers. so we know here that we justtalked about brca-1 and brca-2

and then hereditary breastand ovarian cancer syndrome. we know that there's ahigher risk for breast cancer, a higher riskfor ovarian cancer. then there's also arisk for pancreatic cancer, a slight risk formelanoma with brca-2. then there's a riskfor prostrate cancer. but say you have othercancers in your family such as colon cancer, and you have uterinecancer in your family.

you may also want toinclude in your testing all of these genes. and then we alsoknow that these two genes are not the only ones thatincrease risk of breast cancer. we also have allof these genes here that are known to beassociated with breast cancer. so rather than singlingout only brca-1 and brca-2, it may be best toincorporate an entire panel to meet the needsof other relatives

who've beendiagnosed with other cancers or to see ifit's a different gene that's increasing therisk of breast cancer. and so this isjust another table just really illustratingpretty well how other genes are increasing therisk of breast cancer and other genes are increasingthe risk of ovarian cancer. so it's very importantto try to cover the board in regards to genesrather than just singling out

one or two genes,because you never know which one couldactually come back showing agenetic mutation or not. and so what's actuallyneeded for genetic testing? i get that question a lot. and it used tojust only be blood, but now it's blood or saliva. so you could do a blood drawor give two tubes of saliva. some labs require one tube.

and they could do thegenetic testing that way. how many genes could be tested? we just talked about itcould be one to two genes or 40 or more genesthat can be tested for. and results are usuallyback within two to three weeks, but it could takea little bit longer if we're doing a bigger panel. and most importantly, isit covered by insurance? and that is yes, it absolutelyis covered by insurance.

there are someinsurance barriers when it comes tomedicaid and medicare, but there's so many labsoffering testing now where if one lab doesn't work,then there are other labs who have programs thatwill work with patients who have medicare and medicaid. results are given to the patientand also to their doctors, so that waytheir doctors can know if they have ahigher risk of cancer,

and then doctors will beable to write the referral for them to go ahead andget their mammograms done more frequently or getthem done at an earlier age. and then we also encourage theindividual to share the results with their family,which is most important, because we're trying to preventthe burden or reduce the burden of cancer amongst allthese families who have these hereditarypredispositions to cancer. and so what are thebenefits of genetic testing?

and so the benefit of genetictesting is that your care is tailored directly to yourown specific genetic makeup. so if we know whatyou're at risk for, we now are able tohelp you make the best medical management decisions. so that could be surgically, where you may considermore aggressive surgery, or it could beincreased surveillance. that's having moreprocedures done more often,

like mammogramsand colonoscopies or trans-vaginal exams. chemo prevention,which is medication, or, as we talked about,risk-reducing surgeries. and then it's also avery important opportunity for familymembers to take action so they can gettested early and find out that they have a predisposition before they've everbeen diagnosed with cancer.

and they'll haveaccess to screening options, earlier detection, prevention, and it also helpswith family planning. and so testingcan be for affected or unaffected individualsfor hereditary cancers. so if they're affected, it can determine thecause of the disease. it can also provide uswith a risk assessment to know what else theymay be at risk for.

and they also identify arisk for other conditions that may not havebeen thought about if they didn't gothrough the testing process. and then thosewho are unaffected, we'll know prior to diagnosisand have that key opportunity for early intervention. and this is mycontact information here. so i'm not sure if youwant to take it back to teddy. teddy: sure. thanks, nicole.

so right now we're goingto begin our q&a portion. this will be about afive-to-ten-minute portion, so you all can startasking your questions. please use the questions box. and we can get started -- excuseme -- with our first question. i guess either ofyou can answer this, but i'm going todirect it to dr. wilson. first question is, "can men get mammograms, and canyou give us some known causes

for male breast cancer?" dr. wilson, isyour line on mute? dr. wilson: ithink -- yes, thank you. that's a great question. when we think about theway that we evaluate men, we do it verysimilarly to women, and so we do mammograms for men. i know thatoftentimes we think that men don't have a lot of breasttissue, but they do have some.

and so we use thosetwo plates to identify any changes that might be there. we would probably also do someadditional diagnostic imaging with ultrasound, and one of thetechniques that has been proven to be veryuseful is also mri. mri is an imaging techniquethat uses magnetic resolution to look at anatomy, and itdoesn't have any radiation, and it gives us a lot ofinformation about the tissue,

the bloodvessels and the nerves. and so reasonsfor breast cancer -- i think nicole has reallyunderscored a tremendous amount. much of our concern when wesee a man with breast cancer is that there isa genetic mutation that might be associated. and then other risk factors thatgo along with those patients can also befamilial if there's not a noted genetic relationship.

nicole, do you wantto add anything else? thompson: no, that's great. teddy: okay. sonext question we have -- i think it was on oneof your slides, nicole. thompson: okay. teddy: why ishaving jewish ancestry considered a risk factor? thompson: right. sothe jewish population -- they were actuallyscreened very early on

in terms of genetic testing, and especially inregards to brca-1 and brca-2, there were several studiesdone in the jewish population, and it was found thatashkenazi jews specifically have about threegenetic mutations that increase their risk ofbreast and ovarian cancer. so if you're actually ofashkenazi jewish ancestry, there's a specific panelthat's utilized specifically for thatpopulation that will target

the genetic mutationsthat tend to occur most often in that group. so we know that specifically for the ashkenazijewish population. teddy: okay, thankyou. next question: "can diet, inaddition to genetics, impact yourchances of breast cancer?" dr. wilson: diet-- in several ways. diet -- in what we'veseen, there's a correlation

between low-fat, healthier dietsand being able to maintain a normal body mass index, which is a normal bodyweight in relationship to sort of your height. and so those havebeen proven to -- when you adhere to thoseand you're physically active and you have anormal body weight, you can improveyour risk factors. teddy: okay, next question:

"a recent article in jama notedthat there is a low percentage of patients gettingpre-testing genetic counseling prior toundergoing genetic testing. this question isdirected to you, nicole. do you see that, with theuse of extended gene testing, payers are requiring agenetic counseling note or copy of the pedigree tojustify their authorization for genetic testing?" thompson: yes.

so just toaddress the first part, i think thatthat's definitely key with the pre-test counseling. i think pre-test counselingis absolutely important before ordering genetic testing. genetic test results cangive you so much information, and as i mentioned before, it doesn't onlyimpact you individually. it also impactsyour entire family.

so if one person finds out thatthey have this predisposition to cancer, that means thattheir brothers and sisters have that same risk, andthat means that their parents have that risk, and their futurechildren will have that risk. so when they make this decisionto obtain that information, they're also kindof opening that door for their relatives as well. so it's definitely importantto have the genetic counseling

to go over all ofthat information. also, with thesepanels that we're ordering, we're now finding out, if you have risk for a totallydifferent type of cancer or some other type of syndrome that you weren't exactlydiagnosed with at this time, with genetic counseling, we goover that information as well so you're not blindsidedwhen you get these results back saying that you have arisk for thyroid cancer

whereas you're heretalking about ovarian cancer. so the genetic counselingis extremely important in regards to the pre-testing. also, in terms ofinsurance coverage, pretty much almostevery insurance company -- they do require sometype of justification for genetic testing. it is an expensiveprocedure, i would say. it can range between$1,000 to over $5,000,

so of course for theinsurance companies to cover it they want to makesure that you are meeting nccn guidelinesor their guidelines, which are based offof nccn guidelines. so the importanceof that family tree that i do with every patientis going to be beneficial with gettingtheir testing covered. so when i send in the pedigreeto the insurance companies, they're able tolook at the individuals

and see thattesting is justified for the person thatthey're providing coverage for. so that definitelyis an important factor. teddy: dr. wilson, what typeof treatments did you undergo in your battle with cancer? dr. wilson: so i was diagnosedafter my son was born. he was a yearold, and i breastfed. and what i found is that oneof my breasts didn't go down to the size that i expectedafter i stopped breastfeeding.

and so i started outwith my diagnostic studies, so i had a mammogram,an ultrasound, an mri. the results showed thati had an invasive ductal, which was triple-negative, and i also had aninvasive lobular cancer. and so i went on tostart off with chemotherapy. so i had a 20-week regimen ofchemotherapy that was started, and then i took a month off. i had my double mastectomy thatwas done with reconstruction.

and then i took a month off, and then i hadchest wall radiation, so i did six weeksof radiation as well. and now i'm on a targetedanti-hormonal medication to reduce the riskof it coming back. teddy: thank you.and we have a question: "how would youapproach women who don't feel that they're at any risk or feelthat they are at very low risk just because they are young?"

dr. wilson: so ithink it ties in, for me, just making surethat we're communicating and that we're always sort ofassessing where patients come and what theirgoals are. young women -- currently therecommendation for normal risk, which means that there are norisk factors that are elevated, there's nothing froma familial standpoint and there's no thought of genemutations for that person -- that they startmammography at age 45.

but it's important forpatients to understand about their own bodies, soself breast exam is helpful. and then just makingsure that, every time that i have an opportunityto talk to young women, that i hope wecommunicate the potential risk for every agegroup, as early as age 20, being diagnosedwith breast cancer. it's less likely,but definitely possible. and also, i think it'skey for people to know that

70 percent of patientsdon't have any family risk or any gene mutationthat's been identified, so the vast majority will notcome with any understanding that they're actually at risk untilthey have a breast cancer. teddy: thank youvery much, dr. wilson. nicole, i have acouple of questions for you. "in familial occurrences, does it tend to behomogenous among all the women or all the men, orare there occurrences

in both the men andwomen in the family?" and the second question is, "where can weaccess or get copies of that 'my risk' checklist?" thompson: no, itdoesn't happen in all the women or all the men. they'reautosomal-dominant conditions. most of thesehereditary cancer conditions are autosomal-dominant.

so that means that there'salways a 50 percent chance of it being passeddown with every pregnancy. there's a one in two chance thatyou could have a gene mutation if a first-degreerelative has one. so for instance, if my motherhas a brca-1 gene mutation, there is a one in twochance with every pregnancy that she would havefor that child to have the same exact gene mutation. so there may be one person outof six siblings that has it.

there may be allsix that have it, or there may be threethat have it and three don't. it really varies. and the only way to know forsure if you have a mutation is to actually undergo testing. and having a mutation, letme also say, does not guarantee that you will getcancer. it increases the risk. so if someone has a mutation, it's not a 100percent chance that

they will definitely get cancer. but their risk is higher-- for the first question. and then the second question is where they can findthe "my risk" panel. there are a few panels. "my risk" specificallyis through myriad genetics. so you can go to ibelieve it's myriadpro.com. myriad is one of thegenetic laboratories that offer genetictesting that has a panel.

another is ambry genetics. ithink theirs is ambrygen.com. and they also have severaldifferent panels that they offer for genetic testing as well. teddy: okay, great.thanks so much, nicole. and finally, dr.wilson, are you familiar with the aca's recently updatedmammogram recommendations, and, if so, what areyour thoughts on the changes? dr. wilson: yes. well, theamerican cancer society

changed their currentrecommendations in a couple ways that i think are importantfor normal-risk women. for normal-risk women,they currently recommend going from a mammogram atage 40 every year to age 45 and then every year after that. they also made changes in therole of clinical breast exam in normal-risk women as well,that that was not something that is needed. my concern is that normal-riskis oftentimes a vague term

to many of my patients, and so knowing whetheryou're normal risk or not really takes someeducation and takes some time with a health care providerthat's going to be able to go throughthose things with you. so i think that it's importantto know what your risks are, what your risk factors areand where you're fine. i think it's importantto advocate for yourself. what i do know, though, isthat my population of patients

actually don'trepresent the majority. the predominant ethnicityof my patient population is african american. i also have caribbeanand african immigrants, as well as hispanic patientsin my practice predominantly. and what i see is that breastcancer is a different disease. it's seen in younger women, especially when we lookat african american patients or patients ofafrican descent.

we know that itoftentimes is more aggressive. we know that there aredifferent mortality rates, which are higher forthose patient populations. and so there's so muchmore that we do not know. and so for mypatient population, i think it's adifficult change for me, because what we're left with is not doing clinical breast exams, not doing self breastexams and not doing mammography

for women who are at thehighest risk for mortality and the highestrisk for breast cancer in the ages of 40 to 50. and so it's concerning tome, and i'm looking forward to there being hopefullyan educational module that will help women identifywhether they're normal risk and will help us to look atadditional information and data about other ethnicities in moredetail than we have currently to make those decisions.

teddy: all right, thankyou very much, dr. wilson. so we have gone way over time, so that willconclude today's webinar. thank you all for joining us. dr. wilson's documentary, cancer: theemperor of all maladies -- do you know where theycan access this documentary? i know there's a youtube. dr. wilson: yeah,there's a youtube.

but it's on pbs, the pbs site. teddy: okay. soyou can go to the pbs and check out that documentary.pbs.org. okay, great. great. it's cancer: theemperor of all maladies. again, thank youboth for joining us. thank you very much,nicole and dr. wilson. and thank you all forattending today's webinar. again, thiswebinar has been recorded, and it will be available

on the office of minorityhealth youtube channel. you want to checkfor the ppe playlist, and you can see all ofour recorded webinars. they are transcribed as well. thank you all verymuch, and have a great day. dr. wilson: thank you.

No comments:

Post a Comment