Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect

Autor:	Valentyna Kryklyva, Lodewijk AA Brosens, Monica AJ Marijnissen‐van Zanten, Marjolijn JL Ligtenberg, Iris D Nagtegaal
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	mismatch repair deficiency early‐onset duodenal carcinoma early‐onset ampullary carcinoma early‐onset pancreatic carcinoma Lynch syndrome germline variants Pathology RB1-214
Zdroj:	The Journal of Pathology: Clinical Research, Vol 8, Iss 2, Pp 181-190 (2022)
Druh dokumentu:	article
ISSN:	2056-4538
DOI:	10.1002/cjp2.252
Popis:	Abstract Mismatch repair deficiency (dMMR) is a hallmark of Lynch syndrome (LS), but its prevalence in early‐onset (diagnosed under the age of 50 years) duodenal, ampullary, and pancreatic carcinomas (DC, AC, and PC, respectively) is largely unknown. We explored the prevalence of dMMR and the underlying molecular mechanisms in a retrospectively collected cohort of 90 early‐onset carcinomas of duodenal, ampullary, and pancreatic origin. dMMR was most prevalent in early‐onset DCs (47.8%); more than half of those were associated with hereditary cancer syndromes (LS or constitutional mismatch repair deficiency syndrome). All dMMR AC and PC were due to LS. Concordance of dMMR with underlying hereditary condition warrants ubiquitous dMMR testing in all early‐onset DC, AC, and PC.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/6919818f4252455e875a481dcfc68aab Zobrazit plný text záznamu Plný text View record in DOAJ