BRCA1 and BRCA2 mutation carriers and early breast cancer

Approximately 3 to 5% of patients with breast cancer have an inherited germline pathogenic or likely pathogenic variant in BRCA1 or BRCA2.

Breast tumors in germline BRCA1 mutation carriers are more frequently triple negative, basal like, and diagnosed at younger ages.

Germline BRCA2 mutation associated breast cancers are more commonly estrogen receptor positive, and diagnosed at older age is compared with those with BRCA1 carriers, although earlier than non-carriers.

Both BRCA1 and BRCA2 associated breast cancer is a higher grade than sporadic tumors.

Studies have shown in the OlimpiA trial that there is a significant improvement in three-year invasive disease free survival of 85.9% and distant disease-free survival of 87.5% with the addition of one year of adjuvant ,olaparib  a poly adenosine diphosphate ribose polymerase inhibitor to standard therapy in BRCA1 and or BRCA2 carriers with high-risk stage HER2 negative breast cancer.

It is likely the addition of Pembrolizumab  in BRCA1 and or the BRCA2 carries with triple negative breast cancer to neoadjuvant chemotherapy will be advantageous.

In a global study, one in 5 BRCA young carriers conceived within 10 years after a breast cancer diagnosis, and it was found pregnancy following breast cancer in BRCA cancer is not associated with decreased disease free survival (Lambertimi M).



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