{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T02:39:14Z","timestamp":1763001554268,"version":"3.45.0"},"reference-count":10,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"unspecified","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,16]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>This manuscript highlights the importance of incorporating Lynch syndrome-related genes into prenatal genetic testing to facilitate early detection of constitutional mismatch repair deficiency syndrome (CMMRD). CMMRD, linked to biallelic pathogenic variants in mismatch repair genes, is an aggressive hereditary cancer syndrome. A couple conceived through in vitro fertilisation (IVF), unaware they were carriers of Lynch syndrome. Their child, initially healthy, was diagnosed with acute bilineal leukaemia and later found to have CMMRD. His diagnosis highlighted gaps in prenatal testing. Advances in next-generation sequencing enable broader genetic screening, offering parents crucial risk assessment tools, especially those undergoing IVF, to make informed reproductive choices.<\/jats:p>","DOI":"10.1136\/bcr-2025-267499","type":"journal-article","created":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T02:35:23Z","timestamp":1763001323000},"page":"e267499","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["A missed opportunity for preventing CMMRD: is it time to include Lynch syndrome genes in prenatal genetic testing?"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3667-7024","authenticated-orcid":false,"given":"Geethu","family":"Nair","sequence":"first","affiliation":[{"name":"Hospital Medicine, UCSF, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Cadenas","sequence":"additional","affiliation":[{"name":"UCSF Cancer Genetics and Prevention Program, UCSF, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparajita","family":"Singh","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, University of California San Francisco Department of Medicine, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,12]]},"reference":[{"key":"2025111218351757000_18.11.e267499.1","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/S1470-2045(24)00026-3","article-title":"Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study","volume":"25","author":"Ercan","year":"2024","journal-title":"Lancet Oncol"},{"key":"2025111218351757000_18.11.e267499.2","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.26249"},{"key":"2025111218351757000_18.11.e267499.3","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1038\/s41431-024-01708-6","article-title":"ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management","volume":"32","author":"Colas","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"2025111218351757000_18.11.e267499.4","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-52562-5"},{"key":"2025111218351757000_18.11.e267499.5","doi-asserted-by":"crossref","DOI":"10.1016\/j.epsc.2022.102431","article-title":"Pediatric manifestations of Lynch Syndrome: A single center experience","volume":"86","author":"MacArthur","year":"2022","journal-title":"J Pediatr Surg Case Rep"},{"key":"2025111218351757000_18.11.e267499.6","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-020-0982-5"},{"key":"2025111218351757000_18.11.e267499.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107627"},{"key":"2025111218351757000_18.11.e267499.8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10689-018-0112-4","article-title":"Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome","volume":"18","author":"Baig","year":"2019","journal-title":"Fam Cancer"},{"key":"2025111218351757000_18.11.e267499.9","doi-asserted-by":"crossref","unstructured":"Pediatrics. 2014;134:S104\u201310. doi:10.1542\/peds.2014-1394F","DOI":"10.1542\/peds.2014-1394F"},{"key":"2025111218351757000_18.11.e267499.10","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1688446"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267499","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T02:35:24Z","timestamp":1763001324000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,12]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-267499"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267499","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}