TY - JOUR
T1 - Homologous recombination deficiencies and hereditary tumors
AU - Yamamoto, Hideki
AU - Hirasawa, Akira
N1 - Funding Information:
This work was partly supported by the Health Labour Sciences Research Grant (20EA1027), Foundation for Promotion of Cancer Research, Daiwa Securities Health Foundation, and Kobayashi Foundation for Cancer Research.
Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/1/1
Y1 - 2022/1/1
N2 - 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.
AB - 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.
KW - BRCAness
KW - Cancer predis-position
KW - Germline
KW - Hereditary tumor
KW - Homologous recombination deficiency (HRD)
KW - Multi-gene panel testing (MGPT)
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U2 - 10.3390/ijms23010348
DO - 10.3390/ijms23010348
M3 - Review article
C2 - 35008774
AN - SCOPUS:85121825477
SN - 1661-6596
VL - 23
JO - International journal of molecular sciences
JF - International journal of molecular sciences
IS - 1
M1 - 348
ER -
