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Review

Homologous Recombination Deficiencies and Hereditary Tumors

Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan
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Academic Editor: Girolamo Ranieri
Int. J. Mol. Sci. 2022, 23(1), 348; https://doi.org/10.3390/ijms23010348
Received: 28 November 2021 / Revised: 23 December 2021 / Accepted: 25 December 2021 / Published: 29 December 2021
(This article belongs to the Special Issue Molecular Biology of Hereditary Tumors)
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. View Full-Text
Keywords: homologous recombination deficiency (HRD); hereditary tumor; germline; cancer predisposition; multi-gene panel testing (MGPT); BRCAness homologous recombination deficiency (HRD); hereditary tumor; germline; cancer predisposition; multi-gene panel testing (MGPT); BRCAness
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MDPI and ACS Style

Yamamoto, H.; Hirasawa, A. Homologous Recombination Deficiencies and Hereditary Tumors. Int. J. Mol. Sci. 2022, 23, 348. https://doi.org/10.3390/ijms23010348

AMA Style

Yamamoto H, Hirasawa A. Homologous Recombination Deficiencies and Hereditary Tumors. International Journal of Molecular Sciences. 2022; 23(1):348. https://doi.org/10.3390/ijms23010348

Chicago/Turabian Style

Yamamoto, Hideki, and Akira Hirasawa. 2022. "Homologous Recombination Deficiencies and Hereditary Tumors" International Journal of Molecular Sciences 23, no. 1: 348. https://doi.org/10.3390/ijms23010348

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