imagine the greatest love thatyou carry throughout your life,. the love for your family. thenimagine finding out your family's genes carry apotentially deadly threat, the threat of hereditary cancer.today we'll take that very journey with two extraordinaryfamilies and we'll introduce you to a powerful weapon in thefight against hereditary cancer that's giving hope to familieseverywhere. i'm ereka vetrini and welcome to a very specialedition of access health. musictheir genes carry inherited
mutations that carry throughgenerations of family members bringing withthem a significantly higher risk of a cancer diagnosis. sothere's three young breast cancers in their 30's, what'sgoing on with this family. most people think about cancer assomething that you either remove or treat and i've learned it'sactually something you can prevent.it's so important toknow their family history and their health. it's so importantfor them to communicate that to their physicians. these are thekimball sisters, a close family
of five girls. three of theolder sisters were diagnosed in succession with breast cancer intheir early thirties. my name is cynthia kimball davis, i'm thesecond oldest of five daughters. i discovered i had breast cancerwhen i was 30 years old and it was a pea sized lump in my leftbreast and then when the biopsy came back and they saidit was cancer. i couldn't believe it and that kindofstarted an odyssey in our family. my nameis tammy kimball, i am the 4th of five girls in the kimballfamily. my diagnosis is i have
not had cancer, i'm unaffectedor what is called a pre-vivor. so a pre-vivor is a person whois at higher risk for a cancer but has not had cancer. my momwas very good about making sure i knew what was going on, youknow your aunt's going through breast cancer, she's going to befine and just always putting that awareness in the back of mymind starting at a young age. so after i was diagnosed withbreast cancer, five years later another sisters diagnosed withbreast cancer and then a third sister in their thirties, ourdoctors were like "what's going
on with these young cancers sowe did genetic testing and that was where we were like, oksomethings de finitely going on with this family.music meet dianehardesty and chris moyer, mother and son. there have been 13cancer diagnosis and 10 cancer deaths over the past fivegenerations of their family. i had endometriosis and it endedup saving my life. we'd have several generations of cancer atthat point and i ended up having to have a hysterectomy and ialso had to have my appendix
removed and at 29 both of thoseparts that they took out of me were precancerous. and now i'mthinking, oh no, my body has whatever this thing is that'skilling my family. the idea of cancer really sort of beingsomething looming over our family isn't some thing i reallythought about or wasn't part of my reality until i was 12 andthat's when i watched my grandmother die from cancer.thebig solidification of that was watching my cousin die at 16 ofcancer. marianne lotito is a certified genetic counselor withover 15 years experience in
cancer genetics, she currenltyworks at overlake medical center in bellevue washington.hereditary cancer is defined by having a genetic predisposition,a gene that's not working the way it's suppossed to that'sbeing passed on from individual to the next that greatlyincreases the risk for cancer to happen at some point in thefuture. not everybody with a gene mutation will developcancer but it just means that the risk is significantlygreater than general population. cancer risk can be inheritedfrom either the mom's side or
the dad's side of the family.even though a lot of times we're talking about breast cancer andovarian cancer, it's family history on dad's side that'sjust as important and we inherit one copy from mom and one copyfrom dad. and looking back at my dad'shistory we had this genealogy of breast and ovariancancer and we're shocked and eventually all ofus test, all 5 girls have the same mutation asmy dad. everybody has a risk to develop cancer but those riskscan be different. we know that
in general there are 3 differentbuckets of cancer risk, general population which is sporadiccancers, familial cancer there may be cancers in the family,there may be different types of cancer in different individuals,there may be shared habits, shared environment that lead tothe risk in that famiiy. and then hereditary risk which isdifferent than familial because there's a gene mutation that'sbeing passed on that greatly increases the riskfor cancer to develop. the only way to differentiate whensomebody has a family history of
cancer, whether it's familial orhereditary is by doing genetic testing to find out if they havean underlying mutation in a gene.there are a lot ofdifferent hereditary cancer syndromes, 2 of the most commononce are hereditary breast and ovarian cancer and hereditarycolon cancer or lynch syndrome. patients who test positive forhereditary breast and ovarian cancer have dramaticallyincreased risks for cancer than the general population risk. therisk for a breast cancer can be as high as up to 87% when thereis a brca mutation. the risk for
ovarian cancer can be as high as63%. for colorectal cancer when there is a mutation in one ofthe lynch genes, that risk can be as high as 80%. forendometrial cancer when there is a mutation in one of these genesthat risk to develop endometrial cancer can be as high as 70%.the risk for a second cancer is dramatically higher for peoplewho have a hereditary cancer syndrome. for example, the riskto have a second breast cancer when a woman's already beendiagnosed with one can be as high as 20% within 5 years,there can be a 13% chance to
have an ovarian cancer diagnosedafter breast cancer. coming up after the break: she removedboth healthy breasts willingly in her 30's, why would she dothat? musicwhat's stronger than the power of a deadly disease that plaguesentire generations of a family? the power of love the power offamily and as you're about to find out, the power ofknowledge. here now to explain why awareness, risk assessmentand genetic testing are so important is angelina jolie'sbreast
surgeon is dr. kristi funk.knowing your family history unlocks the key to your dna, youneed to find out. and, as generations go by theinformation is lost so you need to find out now before yourgreat/great aunt who knows everything passes away. firstyou have to realize that the family history is extensive andit's mom and dad' s side. 1st 2ndand 3rd degree relatives, so, do you know what your father'smother's mother's brother died from, cause you should and itcounts. with your family history
you want to be proactiveand you want to share that with your doctor.if we don't know what type of cancer somebody in the familyhas, we may not know to be worried about developing thatcancer. having multiple cancers at a young age or rare cancersare all red flags for an inherited gene mutation.multiple cancers on the same side of the family, particularlybreast, ovarian but also prostate, colon, stomach,melanoma, uterine, these all fall into this category of highrisk gene mutations. so 3 or
more on the same side of thefamily, young, anybody under 50 years old who's had any of thesecancers i mentioned, and rare, so ovarian cancer, male breastcancer, these are uncommon. my dad's had mammograms, which iswild because you know i look at him and i'm like, how could yougive us a mutation, breast and ovarian related but he could getbreast cancer too and men do. so we have a link to a hereditarycancer quiz where a patient can go on to this website and put intheir family history information and it will let them know if theare at elevated risk for
hereditary cancer or not.you cantake that in to your health care provider and have a moredetailed conversation to see if there is a genetic test thatcould be used to help save your life. families that have ahereditary cancer syndrome and don't know it, are like entirefamilies standing on train tracks and they don't even knowthe train is coming. and it's mostly full of preventablecancers like colon cancer so if you identify one patient, in myfamily that was me, you can get that whole family off the traintracks. the whole reasoning of
me getting tested is well my momhas the mutation, first and foremost, and then i have 4aunts that have the mutation as well, so 5 women in our family,that's extremely rare and then 3 of them had cancer all in theirearly 30's. and so, no questions asked, i knew that i wanted toget tested by the time i was 21 years old. someone at riskshould get tested for hereditary cancer because it changes how wemanage their health and their screenings so physicians nowknow which organs are at risk and they can do appropriatesurveillance the person can
choose to do risk reducingoperations, so it can save their lives by knowing what to lookfor and finding things early or eliminating the possibility ofcancer altogether. seeing my sisters go through cancer isdevastating, i saw how it affected them, their families,their children and i wanted to prevent that. my mom was greatthat she was insistent that i have genetic testing, when itcame back positive i had control, i immediately startedwith my treatment plan in preventing cancer and what ineeded to do. when i'm first
seeing a newly diagnosedmutation carrier, my initial goal is to learn about her orhim, usually it's her, we have to only spend a few minutes buti get a sense of where we are in this person's life and what thisgene mutation will do to disrupt her previous plan to live outthis life. and then we choose one of three basic paths,surveillance which consists of exams and imaging staggeredevery few months throughout the year and the imaging for breastsis an mri and mammogram and screening ultrasound. then roadtwo takes that same surveillance
path but adds in some riskreducing medications that are available and then path three isthe maximal risk reduction and that's surgery, you remove theorgans at risk. so we've had five prophylactic doublemastectomies and we've had oophorectomies, hysterectomies,we have no female parts but the cool thing is we are female, wefeel female, we feel sexy. for years every time i might hearsomebody talk about a brca mutation and a preventivemastectomy, i would say oh well that's a no brainier, of coursei would do that. well now i'm
being told that it's my colon,and i want to live, and if my body has spent the last 3 yearstrying to make colon cancer, yeah, let's take this out. the benefit from the surgicalroad is maximum risk reduction. if there is yet to be a cancerit's very unlikely that you will ever get one, far belowpopulation risks. so you've really done someintense intervention with surgery.i'm going to rule this mutation, it's not gonna run my life andthat all
starts with knowing aboutsymptoms, it starts with knowing what my options are, what mypath is going to look like until i decide to get preventativesurgeries. coming up after the break, awareness of inheritedcancer risk finally makes national headlines, thankslargely to one simple test and one of hollywood's biggestsuperstars. musicif you and your family members had an almost certain chance ofdeveloping cancer, what would you do? if you could learn moreabout your cancer risks with the
hope of preventing cancer, wouldyou want to know? it's an intensely personal issue thatgained major awareness recently when actress angelina jolie wentpublic with her own hereditary cancer story which has affectedboth her and her family. you know the angelina jolie effectis like the world's first unending ripple, she removedboth healthy breasts willingly in her 30's and everybody whofound that out had to say, why would she do that? and thatinstantaneously sparked conversations, understanding, itdemystified, what is a brca gene
mutation? could i have it, doyou have it, should i test for it? how do you test for it? whatdo you do if you have it. all of these conversations becamecommonplace and women who, and men, who were previouslymisunderstood in their decision making regarding this genemutation suddenly had someone they could point to. when theidea of that type of testing came up, i was all for it,having more knowledge i would always take that so going in fora simple blood test is a small price to pay to have thatknowledge of whether or not you
have a predisposition forcertain types of cancer. testing for a gene mutation could not besimpler. you go in to your doctor's office, they sampleyour dna via blood or a saliva sample. what a simple test, inmy case, one little tiny tube of blood changed my future and myfamily's future. a panel test allows us to look at multiplegenes across multiple hereditary cancer syndromes at one time. sofor example if a patient has breast, colon and ovarian cancerin their family history we can asses all the genes that mightexplain why those cancers are
happening with one test. oncethe results are back your doctor or genetic specialist willreview the results with you and create an action plan. whensomeone has a positive gene result, then we have to embarkon one of these roads of either surveillance with risk reductionor surgery. so if there's a mutation in the family like yourmother has it and you don't have it, you're off the hook.obviously getting a test back that says i don't have it andthat i was negative kinda came as big relief in some ways butknowing that i didn't have it
and that because i don't haveit, i couldn't have passed it along to my kids, that'sprobably the greatest part for sure. genetic testing labs arenot created equal and what you are looking for in choosing oneis one that has been around a long time that has a largedatabase so they now what they are looking at when they get aresult. and what matters most to me as a physician and surgeonis, are they accurate, when they say you have a mutation do youreally have one cause we are about to potentially do someirreversible extreme things like
remove both breasts and ovaries.i personally prefer myriad genetics, they've been aroundover 20 years as opposed to the majority of labs which are oneto two years old and i trust their results. another strongpoint about myriad is they're very dedicated to educatingpatients and physicians about genemutation results and increasing awareness so nobody's leftuncertain about their results and what the next steps are andwhat it all means. testing now qualifies as a preventivehealthcare screening under the
affordable healthcare act, so assuch, that means that if you meet national guidelines forgenetic testing it will be free for you. there are some programsthat will help subsidize and offset the cost, myriad forexample, does have a patient assistance program and then,near and dear to my heart, the pink lotus foundation provideslow income, uninsured and under-insured women 100% freeaccess to breast screening, all the surveillance they need, ifthey're known carriers and want surgery, we provide all ofthat so there are resources
available.cost should not be the fear factor to trying to save yourown life. first, find out your family history, so talk tofamily members and get all of those facts straight and thenvisit hcq.myriad.com, it is a simple questionnaire, lessthan one minute to take and it will let you know if you haveany red flags for genetic mutations. well, i don't thinkthat there is a negative to genetic testing. whether youfind out you have it or you don't, it still allows you tomove forward in a different way
than you would have been goingbefore. cause if you know you do have it then you can make somedecisions for yourself that allow you toprevent things from ever getting to a state where they'repotentially irrecoverable. but if you don't have it, it allowsyou to live your life differently knowing that youdon't have to go through unnecessary medical proceduresyou don't have to have this extra rain cloud following youaround of worry and, especially when it comes to your kids.probably the biggest thing
that's changed for me is thelack of fear over my son and my grandsons. knowing, sure theycan get cancer like other people, sporadic cancer, butknowing that they didn't inherit this and this ends withme....what a gift! we have no more cancer in our family, we'refinding positives and negatives with the mutation but that's ananswer. i'm doing everything in my power to make sure that idon't have cancer and making those decisions to really reducemy risk, i'll take that any day over cancer. i want people to beaware of their family history,
to know it, knowledge is power.we want to conclude this special episode of access health byreposting some resources for any one of you who thinks yourfamily may be at risk for hereditary cancer. take the quizat hcq.myriad.com ...and o f course you can also go toaccesshealth.tv to watch this program again which weencourage you to do because it's that important. and don't forgetto follow us on facebook and twitter don't be afraid of theanswer. knowledge is power and power eradicates fear....andwhen you are fearless you will
make all the right choices.music
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