Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

doi:10.1200/JCO.2014.57.8088

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Article

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Feb 2015

ten Broeke Sanne W, Brohet Richard M, Tops Carli M, van der Klift Heleen M, Velthuizen Mary E, Bernstein Inge, Capellá Munar Gabriel, Gomez Garcia Encarna, Hoogerbrugge Nicoline, Letteboer Tom G W, Menko Fred H, Lindblom Annika, Mensenkamp Arjen R, Moller Pal, van Os Theo A, Rahner Nils, Redeker Bert J W, Sijmons Rolf H, Spruijt Liesbeth, Suerink Manon, Vos Yvonne J, Wagner Anja, Hes Frederik J, Vasen Hans F, Nielsen Maartje, Wijnen Juul T

Abstract excerpt

PURPOSE: The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. METHODS: Data were collected from 98 PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven...

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PMID: 25512458
DOI: 10.1200/JCO.2014.57.8088

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PMS2

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