PATHOLOGY

Detailed explanation-1: -In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person’s chance of developing cancer.

Detailed explanation-2: -Most hereditary cancer syndromes exhibit autosomal dominant inheritance. The most common hereditary cancer syndromes related to women’s cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li–Fraumeni syndrome, Cowden syndrome, Peutz–Jeghers syndrome, and hereditary diffuse gastric cancer.

Detailed explanation-3: -Huntington’s disease and Marfan syndrome are two examples of autosomal dominant disorders.

Detailed explanation-4: -BRCA1 and BRCA2: The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.

Detailed explanation-5: -BRCA1 and BRCA2 mutations are inherited in an autosomal dominant fashion, but act recessively on the cellular level as tumor suppressor genes involved in double-stranded DNA (dsDNA) break repair [5]. Female carriers of mutations in BRCA1 or BRCA2 have a lifetime risk of breast cancer of 50%–85% [10, 11].