Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer

Česká verze

Authors: RNDr. Soukupová Jana, Ph.D. ^1*; Mgr. Lhotová Klára ^1*; RNDr. Janatová Markéta, Ph.D. ¹; MUDr. Kleiblová Petra, Ph.D. ²; MUDr. Vočka Michal ³; doc. MUDr. Foretová Lenka, Ph.D. ⁴; prof. MUDr. Zikán Michal, Ph.D. ⁵; prof. MUDr. Kleibl Zdeněk, Ph.D. ¹
Authors place of work: Ústav biochemie a experimentální onkologie, 1. LF UK, Praha ¹; Ústav biologie a lékařské genetiky, 1. LF UK a VFN v Praze ²; Onkologická klinika 1. LF UK a VFN v Praze ³; Oddělení epidemiologie a genetiky nádorů, MOÚ, Brno ⁴; Gynekologicko-porodnická klinika 1. LF UK a Nemocnice Na Bulovce, Praha ⁵
Published in the journal: Klin Onkol 2021; 34(1): 26-32
Category: Přehled
doi: https://doi.org/10.48095/ccko202126

Summary

Ovarian cancer is one of the most common gynecologic cancers with the highest mortality rate over a long period. Genetic predisposition to ovarian cancer is unusually high. In the Czech Republic, causal mutation in any ovarian cancer predisposition gene is identified in approximately 30% of the ovarian cancer patients. Therefore, according to the current guidelines, all ovarian cancer patients should be provided with genetic testing. The BRCA1 and BRCA2 are the two major ovarian cancer predisposition genes. Nevertheless, mutations in other predisposition genes, including RAD51C and RAD51D, are associated with high ovarian cancer risk. Mutations in RAD51C and RAD51D are found in 1% of ovarian cancer patients in each respective gene. Currently, identification of germline mutation in RAD51C and RAD51D is primarily of preventive importance but it potentially could make a prognostic difference. The aim of this review is to summarize the recent RAD51C and RAD51D knowledge, including the biological function, cancer risks associated with germline mutations, and recommendations for mutation carriers.

Keywords:

ovarian cancer – DNA repair – cancer genes – next gen sequencing – Mutation – genetic testing

Zdroje

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