Question

A young woman in a suspected breast cancer family takes the BRCA1 and BRCA2 genetic tests. As a genetics counselor, you are asked to meet with her. She wants to meet with you to see if you can give her more information as to what are the different cancer types she is at higher risk for if in fact she test positive for a BRCA-1 or BRCA-2 mutation.

A week later she receives her results and they are negative (she does not test positive for the mutant alleles of BRCA1 or BRCA2). She asks you whether this means that she is free of risk for breast cancer or other related cancers. What would you tell her?

Answer 1

mutations in BRCA1/2 genes are linked with breast cancer and person with history of such mutations are at higher risks. some of the persons are carrier of such mutations, both men and women are equally affected. it is also important to get screened for hormone receptor status like estrogen (ER), progesterone (PR), HER2. mutations in these two genes are also linked with ovarian cancer and other related cancers.

if she have family history of BRCA mutation related cancer she is at higher risk, she may develop the disease at later ages as in most of studies claim that BRCA1/2 mutation causes cancer by age 70/75 in most individuals. she should get screened for it regularly along with hormonal receptor tests.