BRIP1+ - I had 2 breast cancers at age 45

Hi CrawfordsMommy:

Do you have a very strong family history of uterine malignancy or is there a separate gynecological reason for your planned total hysterectomy (with removal of the uterus)? Is it possible that a bilateral salpingo-oophorectomy (removal of both ovaries and Fallopian tubes) would be adequate?

Regarding your new test results, only a genetic change that is known to confer significant risk of breast cancer or other cancers is definitively bad. Some types of genetic changes may not confer increased risk, or it may not be known if they do or not.

Various changes in a particular gene are not created equal:

- Some genetic changes are harmful and are referred to as "pathogenic" mutations. However, different pathogenic mutations in the same gene may confer different levels of risk for cancer or other conditions. The particular mutation and what is known about it must be considered.

- Some genetic variation in genes is normal (blue versus brown eye color), and these changes are sometimes referred to as "polymorphisms". There may be evidence that a particular change does not appear to confer increased cancer risk, based on clinical studies of families that carry that specific polymorphism and it may be considered "neutral".

- The risk associated with some genetic changes is unknown and these are called "Variants of Unknown Significance", also referred to as "variants of uncertain significance" or "VUS"). Such genetic changes have not been adequately characterized. So the associated risk could be near 0%, or some intermediate level, or near the highest level associated with other known pathogenic mutations. It is not known.

Are any of the above terms found in your report?

Something that "is not clinically significant" probably is not a "pathogenic" or deleterious variant, but there is not enough information here for us to tell, and you should seek professional advice

Will you be meeting with a Genetic Counselor to review the results of your test? If not, please strongly consider requesting a referral to a Genetic Counselor to discuss your results. Such a specialist can advise you about the type of BRIP genetic change found, whether adequate evidence is available about it to conclude that the change is "not clinically significant," and provide you with advice in light of your existing breast cancer diagnosis and any family history. (Occasionally, even in the absence of a pathogenic mutation, personal and family history alone may independently support enhanced surveillance and/or certain risk reduction measures.)

BarredOwl

Hi CrawfordsMommy:

Don't hesitate to request a referral for genetic counseling to discuss your results. It should help you to understand your specific results and the implications (if any) for you (and other family members). It is also helpful to understand the limitations of the testing you received (what it does not mean and open questions that have not been answered by the testing).

Both NCCN and ASCO recommend genetic counseling, both pre-testing and post-testing. I think and hope you will find genetic counseling to be valuable and informative, as I did.

BarredOwl