Breast Cancer Gene 2 Mutation: A Family Story

Background: Breast cancer gene (BRCA) (BRCA1 and BRCA2) gene mutation raises the chances of the development of ovarian and breast carcinoma.The presentation is commonly seen at a younger age.Besides breast and ovarian cancer, these mutations are also related to numerous other cancers.Breast cancer gene 1 is more strongly associated with triple-negative breast cancer, while BRCA2 mutations are more commonly linked to male breast cancer.Case report: A 65-year-old nulliparous woman, a confirmed case of ductal invasive left breast carcinoma.Disconcertingly, two of her sisters had breast cancer at 46 and 59 years of age, and her mother died of ovarian carcinoma in her 80s, associated with a BRCA2 mutation.All sisters presented with different biological types of breast cancer.All four of her brothers are unaffected and are hale and hearty.Our patient, despite the risk, chose a unilateral mastectomy and refused oophorectomy.Conclusion: Our patient had BRCA2 mutation-related breast cancer, presenting in late age, contrary to the usual presentation at an early age.Also, she had a strong family history with two younger sisters having breast cancer, but all of them had different biological subtypes of breast cancer.Despite the known genetic predisposition, there is still a knowledge gap that exists, as even the at-risk population is not undergoing active screening.