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- W4200012765 endingPage "298" @default.
- W4200012765 startingPage "285" @default.
- W4200012765 abstract "Defects in DNA repair genes have been extensively associated with cancer susceptibility. Germline pathogenic variants (GPV) in genes involved in homologous recombination repair pathways predispose to cancers arising mainly in the breast and ovary, but also other tissues. The RAD51 paralogs RAD51C and RAD51D were included in this group 10 years ago when germline variants were associated with non-BRCA1/2 familial ovarian cancer. Here, we have reviewed the landscape of RAD51C and RAD51D germline variants in cancer reported in the literature during the last decade, integrating this list with variants identified by in-house patient screening. A comprehensive catalog of 341 variants that have been classified applying ACMG/AMP criteria has been generated pinpointing the existence of recurrent variants in both genes. Recurrent variants have been extensively discussed compiling data on population frequencies and functional characterization if available, highlighting variants that have not been fully characterized yet to properly establish their pathogenicity. Finally, we have complemented this data with relevant information regarding the conservation of mutated residues among RAD51 paralogs and modeling of putative hotspot areas, which contributes to generating an exhaustive update on these two cancer predisposition genes." @default.
- W4200012765 created "2021-12-31" @default.
- W4200012765 creator A5007871376 @default.
- W4200012765 creator A5016203820 @default.
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- W4200012765 creator A5080634247 @default.
- W4200012765 creator A5081856148 @default.
- W4200012765 creator A5083342683 @default.
- W4200012765 date "2021-12-30" @default.
- W4200012765 modified "2023-10-16" @default.
- W4200012765 title "A decade of <i>RAD51C</i> and <i>RAD51D</i> germline variants in cancer" @default.
- W4200012765 cites W1506353077 @default.
- W4200012765 cites W1523531555 @default.
- W4200012765 cites W1606013786 @default.
- W4200012765 cites W1871202334 @default.
- W4200012765 cites W1946412568 @default.
- W4200012765 cites W1994948218 @default.
- W4200012765 cites W2007805774 @default.
- W4200012765 cites W2011881129 @default.
- W4200012765 cites W2015685634 @default.
- W4200012765 cites W2021649141 @default.
- W4200012765 cites W2036180332 @default.
- W4200012765 cites W2041205258 @default.
- W4200012765 cites W2047504175 @default.
- W4200012765 cites W2051322491 @default.
- W4200012765 cites W2051978340 @default.
- W4200012765 cites W2063513563 @default.
- W4200012765 cites W2071151376 @default.
- W4200012765 cites W2074549105 @default.
- W4200012765 cites W2074720002 @default.
- W4200012765 cites W2076132286 @default.
- W4200012765 cites W2082211636 @default.
- W4200012765 cites W2094328090 @default.
- W4200012765 cites W2098812676 @default.
- W4200012765 cites W2100343950 @default.
- W4200012765 cites W2113240710 @default.
- W4200012765 cites W2134244577 @default.
- W4200012765 cites W2135195813 @default.
- W4200012765 cites W2135597217 @default.
- W4200012765 cites W2137258881 @default.
- W4200012765 cites W2141413040 @default.
- W4200012765 cites W2151206132 @default.
- W4200012765 cites W2151876400 @default.
- W4200012765 cites W2152061559 @default.
- W4200012765 cites W2153715231 @default.
- W4200012765 cites W2153966196 @default.
- W4200012765 cites W2154714967 @default.
- W4200012765 cites W2165448433 @default.
- W4200012765 cites W2167677949 @default.
- W4200012765 cites W2168907125 @default.
- W4200012765 cites W2169983032 @default.
- W4200012765 cites W2227429839 @default.
- W4200012765 cites W2233494104 @default.
- W4200012765 cites W2267803702 @default.
- W4200012765 cites W2345599686 @default.
- W4200012765 cites W2462985846 @default.
- W4200012765 cites W2508673657 @default.
- W4200012765 cites W2623263876 @default.
- W4200012765 cites W2654209411 @default.
- W4200012765 cites W2746596897 @default.
- W4200012765 cites W2749641460 @default.
- W4200012765 cites W2781530221 @default.
- W4200012765 cites W2793042937 @default.
- W4200012765 cites W2795227812 @default.
- W4200012765 cites W2801391872 @default.
- W4200012765 cites W2810883871 @default.
- W4200012765 cites W2891924624 @default.
- W4200012765 cites W2909194804 @default.
- W4200012765 cites W2923094687 @default.
- W4200012765 cites W2928369482 @default.
- W4200012765 cites W2938370698 @default.
- W4200012765 cites W2952728907 @default.
- W4200012765 cites W2952969165 @default.
- W4200012765 cites W2973792310 @default.
- W4200012765 cites W2977412411 @default.
- W4200012765 cites W2998301601 @default.
- W4200012765 cites W3001210504 @default.
- W4200012765 cites W3006887898 @default.
- W4200012765 cites W3007067759 @default.
- W4200012765 cites W3026701688 @default.
- W4200012765 cites W3027442050 @default.
- W4200012765 cites W3030957531 @default.
- W4200012765 cites W3036860998 @default.
- W4200012765 cites W3043743907 @default.
- W4200012765 cites W3095003868 @default.
- W4200012765 cites W3100475287 @default.
- W4200012765 cites W3106384965 @default.
- W4200012765 cites W3112087052 @default.
- W4200012765 cites W3124119591 @default.
- W4200012765 cites W3145121106 @default.
- W4200012765 cites W3167955109 @default.
- W4200012765 cites W3169213682 @default.
- W4200012765 cites W3172714441 @default.