Article Sections

Introduction

BRCA1 and BRCA2 are tumor suppressor genes that maintain genomic stability through repair of double-stranded DNA breaks.  Mutations in these genes significantly increase the risk of developing several types of cancer, most notably breast and ovarian cancer.  Although BRCA1/2 mutations are responsible for a small percentage of all breast cancers, they account for a significant proportion of hereditary breast and ovarian cancers.

BRCA1andBRCA2: Gene function and location

BRCA1 (breast cancer 1) is located on chromosome 17, and BRCA2 (breast cancer 2) is located on chromosome 13.  Mutations of these genes are inherited in an autosomal dominant fashion.  Tumor suppressor genes are involved in multiple processes, including:

  • DNA repair.
  • Cellular differentiation.
  • Checkpoint control of the cell cycle.
  • Transcription factor regulation.

BRCA1/2

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