BRACA Testing

Who should consider genetic testing for BRCA1 and BRCA2 mutations?

Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person's individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.

In December 2013, the United States Preventive Services Task Force recommended that women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer be evaluated to see if they have a family history that is associated with an increased risk of a harmful mutation in one of these genes (17).

Several screening tools are now available to help health care providers with this evaluation (17). These tools assess family history factors that are associated with an increased likelihood of having a harmful mutation in BRCA1 or BRCA2, including:

• Breast cancer diagnosed before age 50 years
• Cancer in both breasts in the same woman
• Both breast and ovarian cancers in either the same woman or the same family
• Multiple breast cancers
• Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

When an individual has a family history that is suggestive of the presence of a BRCA1 or BRCA2mutation, it may be most informative to first test a family member who has cancer if that person is still alive and willing to be tested. If that person is found to have a harmful BRCA1 or BRCA2mutation, then other family members may want to consider genetic counseling to learn more about their potential risks and whether genetic testing for mutations in BRCA1 and BRCA2 might be appropriate for them.

If it is not possible to confirm the presence of a harmful BRCA1 or BRCA2 mutation in a family member who has cancer, it is appropriate for both men and women who do not have cancer but have a family medical history that suggests the presence of such a mutation to have genetic counseling for possible testing.

Some individuals—for example, those who were adopted at birth—may not know their family history. In cases where a woman with an unknown family history has an early-onset breast cancer or ovarian cancer or a man with an unknown family history is diagnosed with breast cancer, it may be reasonable for that individual to consider genetic testing for a BRCA1 or BRCA2 mutation. Individuals with an unknown family history who do not have an early-onset cancer or male breast cancer are at very low risk of having a harmful BRCA1 or BRCA2 mutation and are unlikely to benefit from routine genetic testing.

Professional societies do not recommend that children, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. This is because no risk-reduction strategies exist for children, and children's risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low. After children with a family history suggestive of a harmful BRCA1 or BRCA2 mutation become adults, however, they may want to obtain genetic counseling about whether or not to undergoing genetic testing.

I had genetic counseling before testing. I highly recommend it. The counselor takes a very detailed history and then recommends for or AGAINST testing. They don't recommend testing when your family history doesn't warrant it. I don't know how old you are, but asingle case of post menopausal breast cancer in a family with no other family related history is much more likely to not be genetic.

My counselor felt I was very low risk for BRCA but higher risk for a few other syndromes because my dad's mom & sister both had colon cancer. I was tested for CHEK2 & PTEN before she tested me for BRCA & I was negative for all.

As far as we know now, a very low percentage of breast cancers are genetically transmittable

Cancer is a function of aging. The older you or anyone else is when diagnosed the less likely it is to be genetic. It would be much more worrisome if you had a mom or sister (or father or brother) with a related cancer, and especially premenopausally.

Pretty much every family has a history of cancer unless they all die young from something else. It is only specific cancer groupings,,often at early ages, that are particularly concerning

Look into testing by Color Genomics. I had Brca and Bart done by Myriad and am currently waiting on the CG panel

Again, a sporadic case of breast cancer at 58 with no family history has a very, very low probability of being genetic

vlnrph, thanks for the congrats on winning the appeal. It felt like a major victory (and it was, $4K) esp. because I could never get them to pay for a B-MRI. No, it was my paternal grandmother who died of pancreatic cancer. I'm not sure if my mom's gyno-onco is recommending BRCA testing for her. She's 70+, stage 3, still undergoing Tx and had aggressive surgery. I don't know what they would do differently based on the results of the BRCA or other genetic tests. I can't see her doing a pre-emptive double Mx any time soon. (she's already been through a lot) What other genetic tests do you know of? I got a list from my genetic counselor and the links between other genes and BC/ovarian cancer are nowhere near as strong as BRCA. And one doc I spoke to wondered how much data there is (since these tests are new) to support the correlations. Of course, the question that's been burned into my brain from my MO: what would you do differently based on the results? anyway, if you know of more, I'd be curious to hear about it.