biostudies-literatureUsui YJapan Agency for Medical Research and DevelopmentJapan Agency for Medical Research and Development (AMED)3972-3979https://www.ebi.ac.uk/biostudies/studies/S-EPMC9633290biostudies-literatureUnknown113(11)The application of advanced molecular technology has significantly expanded lymphoma classification, allowing risk stratification and treatment optimization. Limited evidence suggests the presence of a genetic predisposition in lymphoma, indicating the potential for better individualized clinical management based on a novel lymphoma classification. Herein, we examined the impact of germline pathogenic variants in 27 cancer-predisposing genes with lymphoma risk and explored the clinical characteristics of pathogenic variant carriers. This study included 2,066 lymphoma patients and 38,153 cancer-free controls from the Japanese population. Following quality control of sequencing data, samples from 1,982 lymphoma patients and 37,592 controls were further analyzed. We identified 309 pathogenic Cancer scienceAssociation between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.PMC9633290JP19kk0305010Kamatani YSugano KMurakami YMaeda YYoshida TIwasaki YMatsuo KNakagawa HHirata MEndo MMomozawa YUsui YMatsuda KfalseAssociation between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.The application of advanced molecular technology has significantly expanded lymphoma classification, allowing risk stratification and treatment optimization. Limited evidence suggests the presence of a genetic predisposition in lymphoma, indicating the potential for better individualized clinical management based on a novel lymphoma classification. Herein, we examined the impact of germline pathogenic variants in 27 cancer-predisposing genes with lymphoma risk and explored the clinical characteristics of pathogenic variant carriers. This study included 2,066 lymphoma patients and 38,153 cancer-free controls from the Japanese population. Following quality control of sequencing data, samples from 1,982 lymphoma patients and 37,592 controls were further analyzed. We identified 309 pathogenic 2022-01-01T00:00:00Z2022 Nov2025-04-05T12:33:51.714Z2025-04-05T12:33:51.714ZS-EPMC96332903606548310.1111/cas.15522