Cancer statistics, I have found, are all over the map. The lab who conducted my blood analysis, my oncologists and two genetics counselors all provided me with different figures. I suspect the reasons for this relate to demographics, family history, developing research, stage of detection and more.
Current data estimates that up to 50% of women and 40% of men will develop some form of cancer in their lifetime. I was unable find a source specific to BRCA2 that aggregates my lifetime risk, but there’s no doubt that my mutation increases my chances above that of the general population.
The following represents my understanding of the risks associated with BRCA2-specific cancers. My sources include individual consults with my doctors and genetic counselors as well as Cancer.gov, Cancer.org, pancan.org, sciencedirect.com, jamanetwork.com, and nlm.nih.gov.
Pancreatic cancer
Pancreatic cancer is rarely caught early, and as indicated by the 5 year survival rate, can be very aggressive. Screening options include colonoscopy, MRI and Endoscopy Ultrasound (EUS). Removal of the pancreas is uncommon and not a recommended prophylactic procedure.
Ovarian, peritoneal and fallopian tube cancers
Like pancreatic cancer, ovarian cancer is also aggressive and rarely caught early. To date, there are no reliable screening options for ovarian cancer. Prophylactic surgery after childbearing is complete and/or chemoprevention are options for high-risk individuals. I opted for surgery three months ago and have no regrets.
Regarding ovarian, peritoneal and fallopian tube cancers, ”It is difficult to distinguish between these 3 forms of cancer because the clinical symptoms are similar and because the pathological appearance of the 3 tumor types is almost identical.”
Breast cancer
In addition to lifestyle modifications (most of which I already follow), my doctor advised me of two options. I could get regular mammograms and MRIs while taking chemoprevention medicine or I could go the Angelina Jolie route and have a risk-reducing double mastectomy with reconstruction.
The alternative to a mastectomy is to play a waiting game for it to pop up while taking tamoxifen. A close friend of mine took tamoxifen for two years and suffered horribly from a myriad of side effects including joint pain, fatigue, irritation, anger, anxiety, intense hot flashes and weight gain.
As I understand it, I have the greatest chance of getting breast cancer in the next 10 years. And once it gets you, no matter how soon you catch it, you always have to worry about it coming back. And when it comes back, it comes back with a vengeance. I’m opting for maximum risk reduction and have scheduled a double mastectomy with immediate DIEP flap reconstruction for the near future.
More progress has been made with early detection in breast cancer than any other form of cancer. Yet, most screening options are not widely available to the general population. Mammograms alone are insufficient since, as the American Cancer Society states, they miss about 1 in 8 breast cancers. I urge all women to be fierce advocates for themselves and press for additional screening when you feel the need.
Endometrial (uterine) and cervical cancer
Though not affiliated with BRCA2, I’ve included endometrial and cervical cancers because I opted to have a total hysterectomy when I had my ovaries and fallopian tubes removed. Screenings for cervical cancer include pap smears and HPV testing. The full CDC recommendations are found here. Also, according to the CDC, “There are no screening tests for uterine cancer in women who do not have any signs or symptoms. The Pap test does not screen for uterine cancer.” Read more about what you can do if you do not have symptoms here.
Melanoma
Recommendations are the same for BRCA2 and the general population: annual skin exam (full body), routine self-exams, reduce UV exposure, wear sunscreen and protective clothing, avoid tanning beds and excessive sun exposure.
Ocular melanoma
There are some documented cases of BRCA2 mutations and ocular melanoma, but no hard data on the association. According to my genetics counselor, I can opt to follow the recommended screenings used by those with the BAP1 mutation – an annual eye exam (dilated eye exam & baseline dilated fundus imaging) with an ophthalmologist (instead of optometrist.) As rare as it is, I lost a dear friend this past year to ocular melanoma. I will honor his life and memory by following these guidelines as was his wish for everyone.
It is worth noting that, according to the American Cancer Society, “Most cancers of the eye and orbit in adults are melanomas, but this cancer starts more often in other parts of the body. More than 9 out of 10 melanomas start in the skin.”
Male breast cancer
Recommendations for BRCA2 include self-exams, clinical chest exams and mammograms starting at age 50. Prophylactic surgery is not recommended.
Prostate cancer
Recommendations for BRCA2 include PSA screening starting at age 40 followed by digital rectal exams. Prophylactic surgery is not recommended.
Fanconi anemia
On a final note, BRCA2 individuals need to be aware of risks associated with family planning and reproduction. I have one pathogenic variant identified in BRCA2 which means I got it from one of my parents. My children have a 50% chance of having it as well. Should they opt to have children of their own, they’ll need to consider being tested along with their mate to rule out the possibility that they both have the BRCA2 mutation.
If that were the case, they could both potentially pass it on to their children resulting in what is called a “biallelic pathogenic variant in BRCA2” which is associated with increased risks of a severe form of Fanconi anemia. Fanconi anemia is characterized by bone marrow failure and a number of deformities. It also increases the risk of leukemia and early onset tumors “with up to a 97% risk of malignancy by 5 years of age.” (Source: My clinical summary from Invitae)
*Surgical removal does not completely eliminate the chances of getting a particular form of cancer that has already materialized in the body, detected or not.
Trina Baughn 