Article
BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature.
Cancer reports (Hoboken, N.J.) - 1 Apr 2025
Antoci Francesca, Colella Tommaso, Biletta Elena, Travaglino Erica, De Lisi Giuseppe, Quaquarini Erica, Arpa Giovanni, Pisacane Alberto Maria, Paris Myriam Katja, Corallo Salvatore, Di Sabatino Antonio, Leone Francesco, Vanoli Alessandro
Abstract excerpt
BACKGROUND: Small bowel adenocarcinomas (SBAs) are rare and aggressive cancers. About one-fifth of SBA patients have predisposing conditions; among them, there are also genetic tumor syndromes, including Lynch syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. Although BRCA2 mutations, both somatic and germline, have been recently described in SBAs, direct evidence of BRCA2 inactivation in SBA...
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