{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:46:17Z","timestamp":1760147177321,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CONACYT FOSISS","award":["SALUD-2018-02-A3-S-39248A3-S-39248"],"award-info":[{"award-number":["SALUD-2018-02-A3-S-39248A3-S-39248"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The PMS2 gene is involved in DNA repair by the mismatch repair pathway. Deficiencies in this mechanism have been associated with Lynch Syndrome (LS), which is characterized by a high risk for colorectal, endometrial, ovarian, breast, and other cancers. Germinal pathogenic variants of PMS2 are associated with up to 5% of all cases of LS. The prevalence is overestimated for the existence of multiple homologous pseudogenes. We report the case of a 44-year-old woman diagnosed with breast cancer at 34 years without a relevant cancer family history. The presence of pathogenic variant NM_000535.7:c.1A &gt; T, (p.Met1Leu) in PMS2 was determined by next-generation sequencing analysis with a panel of 322 cancer-associated genes and confirmed by capillary sequencing in the patient. The variant was determined in six family members (brothers, sisters, and a son) and seven non-cancerous unrelated individuals. Analysis of the amplified region showed high homology of PMS2 with five of its pseudogenes. We determined that the variant is associated with the PMS2P1 pseudogene following sequence alignment analysis. We propose considering the variant c.1A &gt; T, (p.Met1Leu) in PMS2 for reclassification as not hereditary cancer-related, given the impact on the diagnosis and treatment of cancer patients and families carrying this variant.<\/jats:p>","DOI":"10.3390\/ijms24021398","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T02:06:03Z","timestamp":1673402763000},"page":"1398","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer"],"prefix":"10.3390","volume":"24","author":[{"given":"Veronica","family":"Fragoso-Ontiveros","sequence":"first","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Secci\u00f3n XVI, Tlalpan, Mexico City 14070, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela Angelica","family":"De la Fuente-Hernandez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Secci\u00f3n XVI, Tlalpan, Mexico City 14070, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Gonzalez-Osnaya","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Secci\u00f3n XVI, Tlalpan, Mexico City 14070, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Gamez-Rosales","sequence":"additional","affiliation":[{"name":"Pathology Direction, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9338-2284","authenticated-orcid":false,"given":"Maria Delia","family":"Perez-Montiel","sequence":"additional","affiliation":[{"name":"Pathology Direction, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Isla-Ortiz","sequence":"additional","affiliation":[{"name":"Gineco-Oncology Department, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Francisco","family":"Cantu-De Leon","sequence":"additional","affiliation":[{"name":"Research Direction, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Maria","family":"Alvarez-Gomez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Secci\u00f3n XVI, Tlalpan, Mexico City 14070, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","article-title":"Hereditary Colorectal Cancer","volume":"348","author":"Lynch","year":"2003","journal-title":"N. 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