Breast cancer is the most prevalent type of malignant neoplasm in the world, with approximately 2.2 million new cases worldwide in 2020.
1 Approximately 5% to 10% of breast cancers are hereditary, hallmarked clinically by unusual transgenerational clustering of breast cancers and bilateral and early onset of disease, at times associated with ovarian cancer.
2 Germline pathogenic variants in the
BRCA1 (OMIM 113705) or
BRCA2 (OMIM 600185) genes underlie most hereditary breast and ovarian cancers.
2,3 Individuals who carry
BRCA variants and are asymptomatic are at a substantially higher lifetime risk of developing breast and/or ovarian cancer compared with the general population, with risks increased by 69% to 72% for breast cancer and 17% to 44% for ovarian cancer.
4,5 Being a carrier of a BRCA variant often impacts physical and psychological well-being: anxiety,
6 depression,
7-9 distress,
10,11 poor sleep quality,
12 sexual inactivity,
13 fatigue,
12 endocrine dysfunction,
14 and imbalanced caloric intake
15 have been noted in individuals carrying
BRCA variants, impairing their quality of life and health status.