{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T03:51:24Z","timestamp":1780372284284,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN\u2010148390"],"award-info":[{"award-number":["FDN\u2010148390"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    External auditory canal squamous cell carcinoma (EACSCC) is rare, affecting 1.6 in a million individuals. We report a case of EACSCC in a 66\u2010year\u2010old woman carrying a heterozygous\n                    <jats:italic>BRCA2<\/jats:italic>\n                    germline pathogenic variant (GPV) (c.8537_8538del), with prior history of breast cancer. Tumor copy\u2010number analysis showed loss of heterozygosity at the\n                    <jats:italic>BRCA2<\/jats:italic>\n                    locus. Genomic scar analysis supported homologous recombination repair deficiency (HRD), with mutational signatures showing the predominance of APOBEC activity and lower contributions of HRD\u2010associated single base (SBS3, SBS8) and INDEL (ID6) signatures. A somatic\n                    <jats:italic>TP53<\/jats:italic>\n                    pathogenic variant was also identified. These findings suggest a contributory role for\n                    <jats:italic>BRCA2<\/jats:italic>\n                    in EACSCC development.\n                  <\/jats:p>","DOI":"10.1002\/gcc.70123","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T13:10:22Z","timestamp":1775740222000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Causative Role for a\n                    <scp>\n                      <i>BRCA2<\/i>\n                    <\/scp>\n                    Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0081-7964","authenticated-orcid":false,"given":"Jos\u00e9","family":"Camacho\u2010Valenzuela","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Medicine McGill University  Montreal Quebec Canada"},{"name":"Cancer Research Program Research Institute of the McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dylan","family":"Pelletier","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medicine McGill University  Montreal Quebec Canada"},{"name":"Division of Medical Genetics, Department of Specialized Medicine McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paz","family":"Polak","sequence":"additional","affiliation":[{"name":"Quest Diagnostics  Secaucus New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pathology McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Hamel","sequence":"additional","affiliation":[{"name":"Cancer Research Program Research Institute of the McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Daniela","family":"Robles\u2010Espinoza","sequence":"additional","affiliation":[{"name":"International Laboratory of Research of the Human Genome National Autonomous University of Mexico  Quer\u00e9taro M\u00e9xico"},{"name":"Somatic Genomics Wellcome Trust Sanger Institute  Cambridge Hinxton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-4651","authenticated-orcid":false,"given":"William D.","family":"Foulkes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medicine McGill University  Montreal Quebec Canada"},{"name":"Cancer Research Program Research Institute of the McGill University Health Centre  Montreal Quebec Canada"},{"name":"Division of Medical Genetics, Department of Specialized Medicine McGill University Health Centre  Montreal Quebec Canada"},{"name":"Cancer Axis Lady Davis Institute, Jewish General Hospital  Montreal Quebec Canada"},{"name":"Gerald Bronfman Department of Oncology McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,9]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0030-6665(05)70374-1"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2025.1530922"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-023-07890-5"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cas.14515"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/lio2.654"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10147-022-02191-z"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.21.02112"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-024-00277-5"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-023-02546-4"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdu479"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41523-018-0066-6"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btad756"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-019-6041-2"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0390-2"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2021.01.002"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-64578-6"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41698-023-00368-x"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/oncolo\/oyab053"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4292"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2025.108058"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1200\/OA-25-00049"}],"container-title":["Genes, 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