{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T18:21:06Z","timestamp":1783362066323,"version":"3.54.6"},"reference-count":42,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>MUTYH<\/jats:italic>\n                      gene is involved in DNA repair and is known for MAP (\n                      <jats:italic>MUTYH<\/jats:italic>\n                      \u2010associated polyposis), an autosomal recessive disorder that predisposes individuals to colorectal cancer (CRC), with a lifetime risk ranging from 40% to 90%. Homozygosity or double heterozygosity (DH) for pathogenic variants (PVs) in\n                      <jats:italic>MUTYH<\/jats:italic>\n                      causes MAP, but several studies suggest that monoallelic PVs may also increase cancer risk, mainly CRC and breast cancer (BC).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We analyzed\n                      <jats:italic>MUTYH<\/jats:italic>\n                      status in a cohort of 130 patients referred to our familial cancer clinic for suspected hereditary cancer, describing their mutations and clinical features, and comparing the\n                      <jats:italic>MUTYH<\/jats:italic>\n                      mutation rate between our cancer cohort and a group of 150 healthy volunteers. We also described the genetic profile and clinical features of probands relatives, when possible.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      10% of our cancer patients carried a\n                      <jats:italic>MUTYH<\/jats:italic>\n                      PV, while the gene was wild type in all the samples from the control group. The most frequent PVs were c.1187G&gt;A (p.Gly396Asp) and c.536A&gt;G (p.Tyr179cys). We found a double mutation (DM) in 6 patients, with one carrying a DM in MUTYH and the other 5 harboring mutations in\n                      <jats:italic>MUTYH<\/jats:italic>\n                      and other cancer susceptibility genes (\n                      <jats:italic>CHEK2, BRIP1, MLH1<\/jats:italic>\n                      , and\n                      <jats:italic>BRCA1<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The higher\n                      <jats:italic>MUTYH<\/jats:italic>\n                      mutation rate observed in the cancer cohort compared with the control group; cancer recurrence observed in the heterozygous carriers and in both maternal and paternal family branches of patients harboring a DM suggests that\n                      <jats:italic>MUTYH<\/jats:italic>\n                      PVs may play a role in cancer predisposition and progression, even when monoallelic.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cam4.71231","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T11:17:27Z","timestamp":1758885447000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing"],"prefix":"10.1002","volume":"14","author":[{"given":"Gemma","family":"Caliendo","sequence":"first","affiliation":[{"name":"Unit of Clinical and Molecular Pathology AOU University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8664-6210","authenticated-orcid":false,"given":"Chiara","family":"Della 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Cozzolino","sequence":"additional","affiliation":[{"name":"Unit of Clinical and Molecular Pathology AOU University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Iengo","sequence":"additional","affiliation":[{"name":"Unit of Clinical and Molecular Pathology AOU University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Molinari","sequence":"additional","affiliation":[{"name":"Unit of Clinical and Molecular Pathology AOU University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"},{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Napoli 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