Update on BRCA 1 & BRCA 2: Guidelines for Fertility Patients


Guidelines For Fertility Patients

For centuries, the medical community has known that the predisposition to breast cancer runs in families. However, it was in the 1990’s that BRCA -1 and BRCA-2 mutations were discovered and allowed for doctors to determine if patients carried mutations that put them at higher risk for developing breast and ovarian cancers.

While there are many cases of breast and ovarian cancer that are not linked to a known mutation, if a family has had several members with breast or ovarian cancer, screening for BRCA 1 or 2 is indicated. Often the screening happens first on the person who has the cancer if they are available and willing to be tested. But with newer methodologies, BRCA screening can be accomplished more efficiently and at a lower cost. It is still recommended to have a genetic counselor counsel women before and after BRCA testing to help them understand their risk and the recommended screening to catch these cancers before they progress or develop.

At RSC, we ask patients about their family history of cancer, especially breast and ovarian. If they appear to be at risk for a BRCA mutation, we can refer them to a genetic counselor. If they carry a mutation, we have several strategies to help manage their risk and the risk to the next generation.

When should screening for breast and ovarian cancers begin?

In terms of breast screening, it is recommended that they have clinical breast exams every 6-12 months. Starting at age 25 or younger they should begin annual MRI of the breasts. At age 30 they should also have annual mammograms- getting the MRI and Mammogram at 6 months apart so that they are having some screening every 6 months.  This should continue until age 70. If they choose to do a bilateral mastectomy, it may cut their risk of breast cancer by 90%. Women who undergo bilateral mastectomy can still have a healthy pregnancy but will not be able to breast feed.

In terms of ovarian cancer screening, some people advocate lab tests and sonograms every 6 months. It is also recommended to have both ovaries and fallopian tubes removed at age 35-40 or after childbearing is completed.

Preimplantation genetic testing

However, with IVF technology, we can help women preserve eggs and embryos for the future and they can still “bear children” after the ovaries and tubes have been removed (even after age 40.) We can also screen embryos to detect whether they carry the BRCA mutation so patients can make informed decisions about passing BRCA onto the next generation.

Our hope is, of course, that understanding the mutation and how it works will allow for targeted gene therapy or other chemotherapy strategies to fix the broken gene and the cellular process that are affected by the mutated tumor suppressor gene. With continued research and growing medical knowledge, BRCA mutation carriers have options now to give them the upper hand in a battle for their health.

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