Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk
Author(s) -
Sanne W. ten Broeke,
Richard M. Brohet,
Carli M.J. Tops,
Heleen M. van der Klift,
Mary E. Velthuizen,
Inge Bernstein,
Gabriel Capellá,
E. Gómez,
Nicoline Hoogerbrugge,
Tom G.W. Letteboer,
Fred H. Menko,
Annika Lindblom,
Arjen R. Mensenkamp,
Pål Møller,
Theo A. van Os,
Nils Rahner,
Bert J. W. Redeker,
Rolf H. Sijmons,
Liesbeth Spruijt,
Ma Suerink,
Yvonne J. Vos,
Anja Wagner,
Frederik J. Hes,
Hans F. A. Vasen,
Maartje Nielsen,
Juul Wijnen
Publication year - 2014
Publication title -
journal of clinical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 10.482
H-Index - 548
eISSN - 1527-7755
pISSN - 0732-183X
DOI - 10.1200/jco.2014.57.8088
Subject(s) - lynch syndrome , pms2 , medicine , germline mutation , endometrial cancer , colorectal cancer , oncology , cancer , family history , proband , mlh1 , mutation , gynecology , genetics , dna mismatch repair , biology , gene
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.
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