Homologous recombination deficiencies and hereditary tumors

Research output: Contribution to journalReview articlepeer-review

5 Citations (Scopus)

Abstract

Homologous recombination (HR) is a vital process for repairing DNA double-strand breaks. Germline variants in the HR pathway, comprising at least 10 genes, such as BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK2, NBS1(NBN), PALB2, RAD51C, and RAD51D, lead to inherited susceptibility to specific types of cancers, including those of the breast, ovaries, prostate, and pancreas. The penetrance of germline pathogenic variants of each gene varies, whereas all their associated protein products are indispensable for maintaining a high-fidelity DNA repair system by HR. The present review summarizes the basic molecular mechanisms and components that collectively play a role in maintaining genomic integrity against DNA double-strand damage and their clinical implications on each type of hereditary tumor.

Original languageEnglish
Article number348
JournalInternational journal of molecular sciences
Volume23
Issue number1
DOIs
Publication statusPublished - Jan 1 2022

Keywords

  • BRCAness
  • Cancer predis-position
  • Germline
  • Hereditary tumor
  • Homologous recombination deficiency (HRD)
  • Multi-gene panel testing (MGPT)

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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