{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T14:34:17Z","timestamp":1762353257569,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T00:00:00Z","timestamp":1665964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30 CA008748"],"award-info":[{"award-number":["P30 CA008748"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009634","name":"Susan G. Komen","doi-asserted-by":"publisher","award":["SAC150003"],"award-info":[{"award-number":["SAC150003"]}],"id":[{"id":"10.13039\/100009634","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline genetic testing for inherited cancer risk is increasingly being performed with multigene panel testing with <jats:italic>MUTYH<\/jats:italic> often included on colorectal cancer\u2010 and polyposis\u2010focused panels, as well as on broader pan\u2010cancer panels. With up to 1%\u20132% of the general population being monoallelic <jats:italic>MUTYH<\/jats:italic> carriers, pathogenic\/likely pathogenic (P\/LP) variants in <jats:italic>MUTYH<\/jats:italic> are one of the most common findings on multigene cancer panels. However, little is known about patient experience and understanding of monoallelic <jats:italic>MUTYH<\/jats:italic> P\/LP variants, nor whether such findings influence medical management recommendations and familial communication, which this study aims to better understand. Monoallelic P\/LP <jats:italic>MUTYH<\/jats:italic> carriers were recruited from the Prospective Registry of Multiplex Testing (PROMPT) and completed a cross\u2010sectional self\u2010report survey on sociodemographic characteristics, medical and family history, experiences with <jats:italic>MUTYH<\/jats:italic> genetic testing, genetics and <jats:italic>MUTYH<\/jats:italic> knowledge, perceived cancer risk, and familial communication. Of 115 eligible PROMPT participants, 49 (43%) completed the survey who were primarily female (94%), white (96%), had a history of cancer (61%), and a median age of 51.4\u2009years. Most participants (61%) reported satisfaction with how their healthcare provider managed their genetic test result and care, and 65% of survey participants reported their provider recommended colonoscopy based on their genetic test results. Participants' responses also reflected variable levels of knowledge regarding cancer risks and screening recommendations for <jats:italic>MUTYH<\/jats:italic> carriers. The majority (98%) of participants shared their genetic test results with at least some of their relatives; however, only 13% of eligible relatives reportedly underwent cascade testing. Taken together, this study provides needed insight into the overall experiences of monoallelic <jats:italic>MUTYH<\/jats:italic> carriers and highlights numerous areas for improvement in clinician education, communication, and management of these individuals.<\/jats:p>","DOI":"10.1002\/jgc4.1641","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T07:30:13Z","timestamp":1665991813000},"page":"342-350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Summary of the experiences, knowledge, medical management, and family communication of monoallelic <scp><i>MUTYH<\/i><\/scp> carriers"],"prefix":"10.1002","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8317-1520","authenticated-orcid":false,"given":"Danielle B.","family":"McKenna","sequence":"first","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pauleen","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacquelyn","family":"Powers","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie","family":"Brower","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Mueller","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Symecko","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jada G.","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Department of Psychiatry &amp; Behavioral Sciences Memorial Sloan Kettering Cancer Center  New York New York USA"},{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"},{"name":"Weill Cornell Medical College  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Temima","family":"Wildman","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Domchek","sequence":"additional","affiliation":[{"name":"Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judy E.","family":"Garber","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Dana\u2010Farber Cancer Institute  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"},{"name":"Weill Cornell Medical College  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark E.","family":"Robson","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"},{"name":"Weill Cornell Medical College  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8186-9119","authenticated-orcid":false,"given":"Bryson W.","family":"Katona","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng828"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.68.4316"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010013\u20109605\u20103"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PPO.0000000000000057"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.134"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PPO.0b013e3182609490"},{"issue":"7","key":"e_1_2_13_8_1","first-page":"413","article-title":"Errors in delivery of cancer genetics services: Implications for practice","volume":"74","author":"Brierley K. 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