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We identified 13 lymphoma\u2010cancer families (2011\u20132021), in which 27 individuals developed lymphomas and 26 individuals had cancers. Notably, male is the predominant gender in lymphoma patients, whereas female is the predominant gender in cancer patients (<jats:italic>p<\/jats:italic>\u2009=\u2009.019; OR\u2009=\u20094.72, 95% CI, 1.30\u201314.33). We collected samples from 18 lymphoma patients, and detected germline variants through exome sequencing. We found that germline protein truncating variants (PTVs) were enriched in DNA repair and immune genes. Totally, we identified 31 heterozygous germline mutations (including 12 PTVs) of 25 DNA repair genes and 19 heterozygous germline variants (including 7 PTVs) of 14 immune genes. PTVs of <jats:italic>ATM<\/jats:italic> and <jats:italic>PNKP<\/jats:italic> were found in two families, respectively. We performed whole genome sequencing of diffuse large B cell lymphomas (DLBCLs), translocations at IGH locus and activation of oncogenes (<jats:italic>BCL6<\/jats:italic> and <jats:italic>MYC<\/jats:italic>) were verified, and homologous recombination deficiency was detected. In DLBCLs with germline PTVs of <jats:italic>ATM<\/jats:italic>, deletion and insertion in <jats:italic>CD58<\/jats:italic> were further revealed. Thus, in lymphoma\u2010cancer families, we identified germline defects of both DNA repair and immune genes in lymphoma patients.<\/jats:p>","DOI":"10.1002\/ijc.34892","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T19:20:10Z","timestamp":1709752810000},"page":"93-103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Germline variants of <scp>DNA<\/scp> repair and immune genes in lymphoma from lymphoma\u2010cancer families"],"prefix":"10.1002","volume":"155","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8097-1998","authenticated-orcid":false,"given":"Xiaogan","family":"Wang","sequence":"first","affiliation":[{"name":"Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education\/Beijing), Department of Lymphoma Peking University Cancer Hospital &amp; Institute  Beijing 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