{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T23:55:05Z","timestamp":1793922905125,"version":"4.8.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"NHMRC Postgraduate Scholarship","award":["GNT2022274"],"award-info":[{"award-number":["GNT2022274"]}]},{"DOI":"10.13039\/501100001779","name":"Monash University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001779","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Li-Fraumeni Syndrome (LFS), caused by germline pathogenic variants in <jats:italic>TP53<\/jats:italic>, predisposes to a wide range of young-onset malignancies, particularly sarcoma, breast and brain cancer. More recently, an increased risk of gastric adenocarcinoma has been recognised, although uptake of surveillance upper endoscopy is unclear. Our retrospective review of 65 patients with LFS, of whom 53.8% had undergone endoscopy, identified four patients (6.2%) with gastro-esophageal junction (GEJ) adenocarcinomas. Two cases were found on asymptomatic screening and were early stage. No cases had family history of gastrointestinal malignancy. Reviewing genomic data from The Cancer Genome Atlas Program, 76.4% of sporadic esophageal adenocarcinomas harboured somatic <jats:italic>TP53<\/jats:italic> pathogenic variants, compared with 39.9% of non-cardia gastric cancers. This similar pattern observed in germline and sporadic cases warrants further investigation. We propose that upper endoscopy be recommended to all patients with LFS, with a focus on appropriate surveillance of the GEJ.<\/jats:p>","DOI":"10.1007\/s10689-023-00353-0","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T05:01:31Z","timestamp":1704949291000},"page":"29-33","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours"],"prefix":"10.1007","volume":"23","author":[{"given":"Douglas","family":"Tjandra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Boussioutas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,11]]},"reference":[{"issue":"5","key":"353_CR1","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/nrclinonc.2014.41","volume":"11","author":"KA McBride","year":"2014","unstructured":"McBride KA, Ballinger ML, Killick E, Kirk J, Tattersall MHN, Eeles RA et al (2014) Li-Fraumeni syndrome: cancer risk assessment and clinical management. 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