enzyme

BRCA1

BRCA1 and BRCA2 are the genes related with breast and ovarian cancer. They have function in DNA repair processes and thus they are tumor suppressor genes. There are hundreds of mutations identified in these genes. Functional deficiencies due to these mutations impair DNA repair and cause irregularities in the DNA synthesis. The standard method for the laboratory assessment of these BRCA genes includes comprehensive sequencing and testing of broad genomic rearrangements. Members of the families with BRCA mutations have an increased risk for early onset of breast cancer and ovarian cancer occurring at any age. Surveillance of patients with mutations in BRCA 1/2 is done by yearly mammography and breast MRI and by transvaginal ultrasonography and serum CA-125 levels every 6-12 months for ovarian cancer.

Ref:
Varol U, Kucukzeybek Y, Alacacioglu A, Somali I, Altun Z, Aktas S, Oktay Tarhan M. BRCA genes: BRCA 1 and BRCA 2. J BUON. 2018 Jul-Aug;23(4):862-866. PMID: 30358186.

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Added on Jan 9, 2024 by Barbara Van De Keer

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