Health



January 8, 2008, 11:17 pm

Breast Cancer Gene Risk May Be Overstated

A doctor reviews a patient mammogram.A doctor reviewing film from a patient’s mammogram. (C.M. Glover for The New York Times)

The risk posed by certain gene mutations linked to breast cancer may be lower than commonly believed, a new study shows.

Many women fear that breast cancer is inevitable if they are found to carry mutations in the genes BRCA1 and BRCA2. Genetic counselors and health organizations like the American Society of Breast Surgeons maintain that a woman has about an 80 percent lifetime risk of developing breast cancer if she carries one of the mutations.

But researchers at the Memorial Sloan-Kettering Cancer Center have found that a carrier’s risk of developing breast cancer by age 70 ranges from 36 percent to 52 percent, according to a report published today in the Journal of the American Medical Association.

The scientists studied about 2,000 women who had been diagnosed with cancer at the age 55 or younger. Some 181 carried mutations in either BRCA1 or BRCA2 genes, the team found. The researchers also gathered information on whether patients’ mothers, sisters and daughters also had been diagnosed with cancer, about half of whom would also carry BRCA mutations.

Risk was highest among the relatives of the women who were diagnosed at a young age. If a woman with a BRCA mutation was diagnosed at age 35 or younger, the scientists found, her first-degree relatives had a 52 percent chance of having been diagnosed with breast cancer by age 70 and 95 percent by age 80. But if a woman with a BRCA mutation was diagnosed at age 45 or older, her relatives had a 36 percent likelihood of breast cancer by age 70 and 44 percent by age 80.

And if a woman was diagnosed at any age with cancer in both breasts, her relatives also faced a markedly higher risk for the disease, the study showed.

What to make of all this? To be sure, the risk of developing breast cancer among women with BRCA mutations is far higher than the estimated 12 percent lifetime risk faced by the average woman. Some carriers even undergo prophylactic mastectomies, because they believe breast cancer is a foregone conclusion.

The new study suggests that the odds are surprisingly variable even for carriers of the mutations. The authors said the variation is likely due to as yet unidentified mutations that further influence the odds of breast cancer.

“There is a perception out there that all that matters is if you’re a carrier or not, and if you’re a carrier that you’re virtually certain to get breast cancer,’’ said Dr. Colin Begg, chairman of the department of epidemiology and biostatistics at Memorial Sloan-Kettering and lead author of the paper. “What I think is important is that when a woman makes decisions, she should make them fully informed of what her risks are really likely to be.’’


23 Comments

  1. 1. January 9, 2008 3:11 am Link

    This development is HUGE and needs to be more widely reported!

    I am told my insurer will not even cover a BRCA test for me, b/c I do not have a mother or sister with breast cancer. While I am glad that I do not, the reason for this lack has nothing to do with my level of risk: I don’t have a sister at all, and most of the familial breast cancer has been on my father’s side– where every daughter is an only daughter, AND every one over my age has had breast cancer. And of course, a recent, Department of Duh study announced that “Dads can also carry breast cancer gene.”

    Given this, and with a young cousin on my maternal side recently treated for aggressive breast cancer, even w/o BRCA test on me, one of my drs (male of course) fliply remarked, “Why not get them lopped off?” Good one, doc; after all, as my children are decades weaned and my husband gone, no one’s using ‘em, right? Luckily, he’s otherwise a charming fellow and is NOT my gynecologist, oncologist, nor genetic counselor, AND I think (hope)he was kidding.

    Such cavalier attitudes, however, and the rapid rise in prophylactic mastectomies, fairly SCREAM the need for this report of such remarkable downplaying of the BRCA positive risks, to be disseminated widely to both patients AND doctors, esp. the menfolk.

    Mary

    Oh, and Tara, this crosses over from another blog (on Randy Pausch), but I strongly disagree w/ the self-centered grouch who objected to your responding to some of the postings. (a) as another blogger said, is shows you care enough to read the lengthy comments, and (b) it also represents your point of personal privilege in your own parliamentary procedure.

    From TPP — Yes I am always grateful to readers like yourself who share their stories and point of view.

    — Mary
  2. 2. January 9, 2008 7:05 am Link

    Thank you for adding this much more nuanced information. It’s so important that as genetic info filters into popular media, it doesn’t get oversimplified and sensationalized. And, unfortunately, that’s what’s happened. People still don’t seem to realize that very few genes “cause” a disease 100% or even anything close to it. There’s so much genomics doesn’t know yet, and won’t know for years. Scientists and science writers very, very rarely say so because they themselves get caught up in the excitement of discovering a nugget, and–let’s face it–in hyping their own careers. There’s tons of press every time a new gene association is found and no clarification that we rarely know the nature of the relationship between the gene and the clinical condition.

    — norcal girl
  3. 3. January 9, 2008 8:46 am Link

    My wife is a BRCA carrier and I would love dearly to be told that associated risk of breast cancer is less than previously thought. However, the JAMA abstract unfortunately does not make that claim (I have not been able to read the full article). Rather, it simply asserts greater “variation in breast cancer risk among carriers of BRCA1 and BRCA2″ which does not inherently say anything about overall risk (e.g. the overall risk could be unchanged). Furthermore, the NYT article would appear to contradict itself by citing data on relatives of BRCA carriers (of which it admits fully half are not carriers) to infer a change in risk to carriers themselves. These are apples and oranges. Perhaps by not reading the full article I’ve missed a key point and apologize if that’s the case, but even then the NYT should be more clear in its presentation. And if I am right, this article constitutes a dangerous misrepresentation.

    From TPP: Yes, the JAMA article does make that claim, but you would need to read more than the abstract to see it. if you can get a copy of the full article, you should read table 4, which spells out the specific risk of BRCA carriers in the study. It is a confusing study. The study looked at women with breast cancer who carry the gene mutations and their relatives, some of whom have been diagnosed with cancer and some who have not. Looking at relatives was merely a way to further determine BRCA mutation risk, so don’t be distracted by those details. The bottom line is the study was designed to determine the variability of risk for breast cancer among all carriers of the BRCA gene. It showed it is likely far lower than the 80% risk widely claimed. There are likely other unidentified genes influencing the risk of BRCA carriers. Your wife can’t be tested for those genes, but she can get a sense of her risk based on what else is going on in her family. If her mother or sister is a BRCA carrier and developed breast cancer, what age was she diagnosed? If the relative was diagnosed over 45, your wife’s risk of developing breast cancer before 55 is 14%. Her risk of developing breast cancer before 70 is 36%. If the family member was diagnosed younger than 35, then her risk is higher, as noted in the story. I hope this helps. Feel free to ask more questions.

    — concerned husband
  4. 4. January 9, 2008 8:52 am Link

    As a BRCA 2 positive women who has survived 2 bouts with bc, this information was appreciated. I have 2 daughters, 18 and 21. I wonder
    when is the “right” time for genetic testing, and when are they really “ready”
    to make an informed decision if the results are positive.
    Ellen

    From TPP — This is an impossible question as I’m sure you are aware. Your daughters have a 50% chance of carrying the gene. i think the age at which you were diagnosed will help them with their decision. If you were diagnosed under the age of 35, their risk of breast cancer if they carry the gene is far higher, so there may be more benefit to knowing. If you were diagnosed after the age of 45 and they carry the gene, then their risk of developing breast cancer before the age of 55 is 14%. It also depends on what is happening with other relatives in your family, whether the cancer appeared in both breasts and whether ovarian cancer is in your family. I think talking to a genetic counselor about your own history as well as the data from this study, will help you advise your daughters.

    — Ellen Goldstein
  5. 5. January 9, 2008 9:21 am Link

    How many women have faced the diabolic choice of destruction of their bodies or face (now shown to be based on previously stated erroneous data and myths) the high odds of getting breast cancer and dying, had chosen the tit-for-tat (breast removal for a fee) and now find out that another false hope and promise medical care money maker has deprived them of a full, dignified life?

    How many women will wake up and look in the mirror and wonder why they ever let someone destroy their lives?

    How would you face a wife, daughter, aunt or dear female friend who sought your advice based on this test and its explicit “fear” tactic of “Do this or die?” and was disfigured unnecessarily

    How would any male feel if he had a test to find a male sex organ cancer gene and agreed to have his penis and testicles removed only to find out he did so based on erroneous data, myths and the “fear” tactic and now has lost his sense of being a man?

    Why would America consider offering expanded insurance coverage (mostly to lesser income, less educated and more vunerable Americans)to a system that that now thrives on $2.2 trillion with low international ratings, no gold standard research to show what it does has any impact and wants us to believe that another $300,000,000,000 will be well spent. The present medical care decision makers are salivating at the huge salaries, stock deals, retirement funds, etc. that will be forthcoming based on their ability to convince us that they can “save” lives by massive early detection, intervention and use of chemo, radiation and/or dangerous drugs? Please take the time to find out who was promoting genetic testing.
    You can always start with the American Cancer Society website today.

    Gene directed surgery is a form of secondary prevention of cancer. It is costly and often dangerous. It is not a primary form of prevention. Primary prevention will come with wellness and health programs, not after the fact medical intervention, diagnosis and treatment. Wellness prevention is less costly and safer.

    Want to know more? Send an e-mail to healthinfo@delhitel.net with Subject: Request for presentation info on cancer and provide your name, phone (used only in case we can not reach you) and affiliation in the body of the email.

    — ed g
  6. 6. January 9, 2008 9:27 am Link

    I arrived at this conclusion after I was diagnosed with breast cancer last year. I have also come to the conclusion that a lot of the so-called “risk factors” are based on tenuous arguments. There is a lot of misinformation, and incomplete information out there - and there are many who clutch at straws in an effort to understand something that is not very well understood.

    — Texan woman
  7. 7. January 9, 2008 10:31 am Link

    I am so surprised that the NYT reported this article which INSIDE the article itself contains conflicting information and which neglects other important information.

    You lead with the numbers that genetic counselors say people with the gene mutations are have an 80%chance of developing breast cancer in their LIFETIME and then you report the 52% chance by age 70. As far as I know, LIFETIME doesn’t equal age 70. The article implies that the risk of developing breast cancer is much lower than previously thought, but you report that by age 80 the chances of developing breast cancer are 95%. I think someone needs to rethink what the message really is here. If the risk of the general population is 12%, isn’t 52% by age 70 or 95% by age 80 significantly higher?

    But what’s further missing from this article is any comment on the risks of ovarian cancer for a person with the genetic mutation. It is my understanding that ovarian cancer, which is rarely detected in its early stages like breast cancer can be, poses a much higher risk for people with the BRCA-1 or -2 mutation.

    It scares me when I read something so incomplete and misleading. Please clarify this for your readers (which include me).

    -Karen

    From TPP — The study didn’t look at ovarian cancer risk. And the story clearly states that a risk of 40% or 50% is markedly higher than the average risk of 12%. All the points you make in your comment are already included in the story. The range of risk in the study was highly variable, which is the main point. Today, many women are told their risk is 80%, but based on this new research, the risk varies depending on a number of factors. But this study showed some women up to the age of 80 have a risk of 44% while others have a risk of 95%. The point is that women need to have all the information and some women with BRCA mutations appear to be at far lower risk than previously believed. I think a woman with a 44% risk of breast cancer before the age of 80 might make a different decision about her health than a woman with a 95% risk of breast cancer. The women at the scary 95% risk that you highlight in your comment are those who are carriers of the BRCA mutations and have a mother or sister diagnosed before the age of 35.

    — Karen Sabath
  8. 8. January 9, 2008 10:48 am Link

    There is a problem with this logic:
    The researchers say that first degree relatives of a woman with a BRCA mutation diagnosed before age 35 have a 52% chance of being diagnosed with breast cancer by age 70. The problem is, first degree relatives have only a 50% chance of carrying the BRCA mutation in the first place. They are not distinguishing between relatives who are BRCA positive and negative, and which of these women get breast cancer. They need to find relatives who are positive for a BRCA mutation and also negative for breast cancer.
    The risk seems pretty clear when you sort out actual carriers of the mutation: half of relatives have the mutation, half of relatives get breast cancer. Are these the same women? Probably.
    Also, do they distinguish between male and female relatives? Assuming the number of men and women in a particular family are equal (a likelihood, considering 50% chance of having a boy or girl), then a 52% chance among all relatives of developing breast cancer means in a family of 100 every female relative you have plus 2 men will be stricken.
    The real problem with overestimating the impact from BRCA mutations is that genetic information like this is filtered through the popular media and stripped of scientific context. Yes, BRCA mutations greatly increase the risk of breast cancer, but even in the study cited above, these cases only account for 181 out of 2,000, a mere 9% of women affected. Unless you have a positive family history of breast cancer (like Mary, #1), women are better advised to be thorough about self breast exams and be religious about yearly physicals, because the absence of a BRCA mutation doesn’t mean an absence of risk.

    Mary: perhaps you can get around the insurance company by having your father checked for a BRCA mutation; assuming he has a mother or sister with breast cancer, he fits the criteria. If he turns out to be negative, you needn’t worry. If positive, you have ammo to get your own test.

    FROM TPP — The study actually does distinguish between women who are carriers and women who are not carriers. The relatives weren’t tested, but the researchers adjusted the data for the statistical probability that 50% of them would not be carriers. So the data here apply only to those who actually carry the BRCA mutation. You are correct that the absence of BRCA doesn’t mean an absence of risk.

    — Nicole
  9. 9. January 9, 2008 11:56 am Link

    Of the sister, mother, four aunts, two grandmothers, one great-grandmother, countless cousins, and innumerable great-aunts I know of in my family, there has been not one single diagnosis of breast cancer. I figure, as ‘breast cancer genes’ go, I got the long straw and believe you me I’m grateful for that.

    However, I still do my monthly exams and have joined the ranks of women getting their mammograms at regular intervals. I don’t know, if I had a higher genetic risk, that I’d take any more precautions. Lopping off a breast not only seems extreme to me, but also controversial. What about those studies that say that women who had prophylactic mastectomies still developed cancer in the remaining tissue, but it migrated to the lymph nodes faster? I’ve seen various data on that over the years, and it seems like doing it would be taking a risk I don’t want to take with a deadlier form of cancer.

    There’s something about articles like this, where I read them and think about how it must be to live under that sword of impending cancer diagnosis, and hope very much that in addition to medical precautions and preventative treatments, women who are worried about their risk of cancer, heart disease, or any other killer are also working to enrich their lives, store up new and exciting experiences, and follow their dreams.

    In fact, I hope that all women, and men too, are thinking about the fact that regardless of our genes, life is a terminal sexually transmitted illness, and eventually we all die of it.

    — Rowan
  10. 10. January 9, 2008 1:12 pm Link

    I am leaving in about 10 minutes to find out the results of my BRCA testing. Wow, could this be any timelier. I am 42 and was diagnosed with triple negative medullary carcinoma breast cancer in August 2006. I went through a left breast mastectomy, chemo & radiation.

    I am here to tell you that if I test positive I will have my other breast chopped off and an oopherectomy (ovaries & fallopian tubes removed).

    My geneticist told me that I have a 40-80% higher chance if I test positive. But I’ll tell you this much, even if my odds were 20% higher, there is no way I ever want to go through chemo again! I am so thankful that this test exists. Having a breast is not worth my life and it’s not worth going through chemo hell again!

    Not for one minute will I regret my decision, even if they come out with a study saying that it’s only a 10% risk. It is my decision and mine alone and I am going into it fully informed and aware.

    Let me ask a question: If someone told you that you had a 40% chance of getting in a serious automobile accident today, would you stay at home and avoid getting into cars all day long? I sure would!

    Alison aka
    breast cancer Warrior!


    From TPP — You are truly a warrior! ANd i think it’s important that your counselor gave you a range of 40% to 80% risk. By definition, the health decisions you make for yourself are the right ones, and it’s great you made them with the right information. I wish you continued good health.

    — Alison
  11. 11. January 9, 2008 6:05 pm Link

    This article is very helpful to many women to avoid having needless surgery which ultimately can cause more complications. As the Breast Cancer Recovery Coach, I feel the need to comment that regardless of the genetic influence, each woman has the power to prevent cancer.

    There are numerous resources, including my website, BreastCancerCoach.com that offer prevention information and non-toxic treatments. If I had one of those genes, then I would take protocel or other non-toxic treatments, which would essentially kill the cancer cells. I’d use only organic , fresh, ripe, produce, clear my environment of toxins, avoid environmental factors, avoid sugar completely ( sugar feeds cancer) , clear negative thoughts, patterns and beliefs, and immerse myself in a preventative lifestyle. There are ways to prevent cancer even if carrying the gene.

    Let’s focus on that, and use surgery as a last resort.

    — Talia Miller
  12. 12. January 9, 2008 10:21 pm Link

    Unfortunately, one is not free of risk for breast cancer just because no female relative had it. At age 54 and soon after my annual mammogram I was shocked to be told that I had breast cancer. I too had believed that, because none of my many female cousins, six aunts, two grandmothers, sister, or mother had breast cancer, I would never get it. I used to think that those most at risk were those with a family history of breast cancer; however I subsequently learned that only 5% to 10% of women with the disease had a family history of it. In most cases, there is no known cause.

    — Ruby
  13. 13. January 10, 2008 9:02 am Link

    Back to square one: Focusing on prevention of and protection against breast cancer.

    Condomization of female sexuality has been defined as the main and most likely solitary root cause of the current, excess breast cancer epidemic in the country and worldwide. The pretense of ignorance about prevention / protection of the disease seem to continue. The potential for primary prevention of the breast cancer epidemic has not been taken under consideration, by precluding the access to (discriminating against) women and couples to have the alternate, life-saving information of the etiology and of the ways and means for protection against the dreaded disease. The newest data also corroborate the evidence that the (illicit) condomization of the nascent sexuality of the schoolgirls, daughters and other young women is causing the rampant anorexia nervosa among teenagers and college students.

    It may soon prove justified that the never ending promises of the gene-testing risk astrology, espoused mainly by the concerned experts, should terminate the claims (implicit but loud) to replace the anticipated implementation of the potential of primary (non-chemical) prevention of breast cancer as an epidemic disease along with other malignant tumors of women’s reproductive system.

    Arne N. Gjorgov, M.D., Ph.D. (UNC-SPH, Chapel Hill, NC)
    Author of the “Barrier Contraception and Breast Cancer,” 1980: x+164

    — Arne N. Gjorgov, MD, PhD
  14. 14. January 10, 2008 10:06 am Link

    I have not read the full text article but I’d like to know what efforts this study made to include families with as many different types of mutations as possible. As we know, early studies, based on a few prevelent mutations, skewed risk information. Also, I think leaving ovarian and other primary types of cancer out of this analysis makes the information less than helpful to anyone facing any decisions. Why has no collated the relationship of various mutations with real life outcomes to females and males? Three men in my family have died of the same rare cancer in the last three years including my brother whose insurance company refused to test him based on the results of studies like this. The information is available, could someone please do it! I would find this work more helpful and potentially life saving.

    — Frustrated BRCA 1 Carrier
  15. 15. January 10, 2008 2:59 pm Link

    Talia (#11),
    Immersing yourself in a preventative lifestyle sounds peachy, but don’t take it overboard. Especially since as a breast cancer coach you are giving advice to others, you should really be more careful about repeating every goofy thing you hear. For instance, sugar feeds cancer. Yes, it does, it also feeds your brain, muscles, and every other cell in your body. Even if you don’t eat any sucrose, any other food supply you put in your body is digested and converted to glucose before it can be used for energy. It is not the sugar in your stomach that feeds cancer cells, but the glucose circulating in your blood stream.
    Also, if there really was a non-toxic treatment that kills cancer cells, why would anyone go through chemo? If this wonderful cure for cancer you’re touting was real, it would be front page news.
    You are entitled to your beliefs, and more power to you. But if you are advising others, especially if you are also advising them to forego treatments prescribed by qualified medical doctors, you certainly aren’t doing them any favors, and besides being completely unethical you are also making yourself vulnerable to lawsuits and criminal charges.

    Dr. Gjorgov (#13),
    What?! I have no idea what you’re talking about.

    — Nicole
  16. 16. January 12, 2008 3:42 pm Link

    Nicole (#8. 15),

    Yes, my father’s mother and only sister, plus cousin and aunt, had breast cancer, his sister twice. Thank you for the insurance suggestion. I will check w/ him, but I doubt it HIS insurers (prim. Medicare) will cover the BRCA test in a cancer-free, 80 year old man. Worth a try, tho.
    Thank you, also, for taking on Talia (#11)and “Dr,” Arne (#13)! True, why isn’t Talia’s “protocel” (huh?!) all over the news– sounds like peach pit fantasy to me, and she sure better not be “coaching” people that that and organic produce and happy thoughts can cure bc! And Doc Gjorgov? Double huh?!
    True, most bc is NOT, apparently hereditary. and cross-cultural studies (e.g., women in Japan on low-meat diets vs. Japanese-American women)show strong dietary correlations. And there are conflicting stories implicating aluminium-based anti-perspirants which are at least in a relevant (axilliary lymph nodes) area of the body. But condoms?! Like the patrons of “Cheers,” however, I’d be hesitant to ask Dr. Cliff Claven to elaborate.

    — Mary
  17. 17. January 13, 2008 1:15 am Link

    Dear Dr. Begg and Ms. Chase:

    As a 43 year old BRCA1 positive physician, with some education in genetics and statistics, I feel quite passionate about this subject. My father passed on a BRCA mutation to me. I have only 1 paternal aunt in 3 generations with breast cancer that I know of, but I only have 2 female relatives on that branch of my family tree who are older than me, and the other one is BRCA negative.

    I have read numerous articles on BRCA breast and ovarian cancer risk. I have also read the new JAMA article. I was quite concerned about a number of flaws in the study and the quality of the evidence presented.

    I feel that the information available from the study has some utility, but that the authors failed to fully disclose limitations of the study. In my opinion, they also went beyond the evidence presented in their contentions about the degree of risk inferred by a BRCA mutation.

    I also feel that the news media has also gone beyond the data provided.

    This study may demonstrate that some BRCA mutation carriers may have a lower risk, but does not provide any data to indicate which ones may have lower risk. And quotes that in some of the families there was a 95% risk.

    Some of the study limitations include:
    1. exclusion of patients with early recurrence or death prior to the time frame for the development of contra - lateral cancer described. Whether BRCA cancers are more virulent or not, young breast cancers tend to be quite virulent, limiting the pool of index cases. This limitation was addressed in the article.
    2. lack of BRCA testing of relatives. Estimating BRCA mutation prevalence makes the additional data very soft, in my opinion.
    3. study subjects reporting the incidence of cancer in their relatives. How many were not told about their relatives cancers?
    4. limited time for follow up, and relatively young age of the offspring of the index cases.
    5. lack of ability to obtain information regarding risk reduction strategies of the relatives, such as oophorectomy( possibly a factor) or preventative mastectomy (probably rare).
    6. loss of pertinent cancer risk data for all relatives who died before having the opportunity to develop breast cancer. Normally this would not be common, but when studying a breast and ovarian cancer producing mutation, this is a significant concern.

    Certainly it would be wonderful if we had some more specific information about the risks conferred by different mutations, and by other modifiers of risk.

    When I was diagnosed with a BRCA1 mutation this spring, I searched hard to find any plausible evidence that the quoted risk rates would not apply to me. I was unsuccessful in doing that. What I did find were reports from Dr. Steven Narod, who is studying approximately 10,000 women. He has reported approximately an ongoing rate of 3 % per year rate of developing breast cancer among his study subjects who have not taken strong preventative steps such as oophorectomy, tamoxifen or bilateral preventative mastectomy. This apparently continues even as those with low risk families such as myself enter his studies. I also found a study of women with BRCA mutations without strong family history, which followed 125 women for a few years and had 8 of the women develop breast cancer and one of them die during that period despite close surveillance.

    My research into this subject left me feeling that I needed to have preventative bilateral mastectomies and oophorectomy if I was to be confident in achieving my goal of avoiding cancer entirely.

    My worry is that promotion of this study will falsely mislead women at risk that they are at less risk than they really are and encourage some to opt a risk reduction strategy less robust than they otherwise would.

    I hope that I am wrong and that the author is right. Unfortunately my studies do not lead me to be optimistic about that.

    Sincerely:

    M. Margaret Snow, MD
    Physical Medicine and Rehabilitation

    From TPP — Thanks for writing. To clarify for readers, i think you may have inadvertently addressed this letter to Marilyn Chase, my former colleague at the Wall Street Journal who also covered the recent JAMA study on BRCA mutation risk. It is a minor error and your letter makes many fascinating points, so thank you for taking the time to post it.

    — Margaret Snow, MD
  18. 18. January 13, 2008 10:11 pm Link

    The thing I am still finding confusing in the study and reports, what if you test positive for brca and your mother and grandmother had breast cancer at age 44. All the reports seem to point to numbers that if they were diagnosed below age 35 that leads to one statistic, or if they were diagnosed over 45. so what about the women who fall between 35-45? thanks

    from TPP — The risk falls in between. According to this study, if your mother has a BRCA mutation (which she almost certainly does based on the information you provided) and she is diagnosed between the age of 35 and 44, your risk for cancer as a BRCA mutation carrier is 32% before 50, 50% before 70 and 54% before 70. Obviously, this are just average risks — there is no way to know for sure. And given that your mom was on the edge of the age group, the 45 plus numbers ought to be interesting to you as well — they are 14% , 36%, and 44% respectively. Based on this data, you don’t fall into the highest risk group and your lifetime risk is less than is typically stated. I hope this helps.

    — brca1 positive
  19. 19. January 15, 2008 9:50 am Link

    The summer I graduated from college (1960) my mother died of breast cancer. Of course testing for the genes did not exist then. Six years ago, my sister, her only daughter, at age 65, was diagnosed with stage 4 ovarian cancer and given two and a half years to live, which is exactly what she had. Seven months before she died, her only daughter, who was my only niece, was diagnosed with breast cancer at the exact age (47)at which my mother (her grandmother) was diagnosed almost fifty years earlier. My niece died a year ago; she only lived three years after the diagnosis.
    Both my sister and niece tested positive for the BRCA2 gene. Oh how I wish my sister had had her ovaries removed earlier since she had over 25 years between the birth of her last child and her diagnosis; I recommend this to any woman who has any cancer in her family history–not just breast cancer or ovarian cancer. Although it proved too late, my niece had this done after her positive diagnosis; it was a fairly simple procedure–I took her in to the hospital at 7:30 a.m. and picked her up at 1 p.m.

    As a male, I find it so ironic that these female organs, that play such an instrumental role in the perpetuation of the species, are so vunerable. It seems so unfair. In my case, they suppport my belief in the sometimes more haphazard results of evolution rather than any “creationist” notion–how could any “divine” creator place such a curse on his creatures?

    — Jay Bee
  20. 20. January 17, 2008 6:17 pm Link

    I posted back on Jan. 9th and was about to get my BRCA test results. Luckily I tested negative (hear my big sigh of relief)! My geneticist also encouraged me to provide a blood sample that will be stored at a local university. That way my children will have my DNA to be tested for future tests that may identify more hereditary cancer genes that are discovered. I immediately had my blood drawn and stored. And even more good news…my HMO paid for it!

    I would like to comment on a few of the earlier posts regarding prevention of cancer in the first place. That is all good and well, except for one thing — no one really knows exactly what causes cancer. I should have been the Poster Child for how to avoid cancer. I exercised, was only 41 years old, had children before the age of 30, breastfed, ate organic, ate meat sparingly, didn’t drink alcohol, don’t smoke, lived in a rural area, didn’t use fertilizers on the lawn, had no family history, did breast self exams, had my first mammogram at age 40, was not overweight…..the list goes on.

    Prevention is great, but I am positive that I am alive and well today because surgery, chemo, radiation and genetic testing were made available to me. I am so glad that researcher’s are learning all they can about genes. I believe they hold the key to stopping a lot of the diseases like cancer. I post on a cancer message board regularly and I can tell you firsthand that there are many women that have BRCA testing and when they test positive they have their breasts, ovaries & fallopian tubes removed. You would be surprised how many of them have small cancerous tumors that went undetected. Having the BRCA test and surgery is what is saving so many lives.

    — Alison
  21. 21. January 29, 2008 12:06 am Link

    Fascinating information. I’d like to know more about any negative impact on life and health insurance and employment when one agrees to genetic testing - since your insurer would be privy to the results.

    All pertinent feedback welcome. Thanks in advance.

    — Daisy
  22. 22. February 3, 2008 11:30 pm Link

    This recent study adds to the muddiness of the decision-making for the BRCA positive. As a BRAC2 positive with no known family history, I am still debating the merits of prophylactic oopherectomy and removal of the breast which wasn’t removed 6 years ago when I was originally diagnosed with breast cancer. Its easy for the docs to say cut it out or off, but there are quality of life issues presented, such as instant surgical menopause which itself has potentially more than inconvenient side effects. Genetic testing right now results in a minefield of decision-making for even the brightest and most diligent of patients, who are often better informed than the non-specialist physicians that are advising them. All in all, I feel I’m better off knowing, but I look forward to the day when there are clearer answers to the quetions that a positive test for a genetic mutation raises.

    — Cari Roth
  23. 23. February 4, 2008 12:31 pm Link

    i m planning to marry a girl.her grand mother died of some cancer which she does not know.her mother is diagnosed to have ca breast who is 42 yrs old.what is the chance that she will get the disease.how predictive is BRCA 1&2 estimation.

    — safar

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