%0 Journal Article
%A Ten Broeke, Sanne W
%A van der Klift, Heleen M
%A Tops, Carli M J
%A Aretz, Stefan
%A Bernstein, Inge
%A Buchanan, Daniel D
%A de la Chapelle, Albert
%A Capella, Gabriel
%A Clendenning, Mark
%A Engel, Christoph
%A Gallinger, Steven
%A Gomez Garcia, Encarna
%A Figueiredo, Jane C
%A Haile, Robert
%A Hampel, Heather L
%A Hopper, John L
%A Hoogerbrugge, Nicoline
%A von Knebel Doeberitz, Magnus
%A Le Marchand, Loic
%A Letteboer, Tom G W
%A Jenkins, Mark A
%A Lindblom, Annika
%A Lindor, Noralane M
%A Mensenkamp, Arjen R
%A Møller, Pål
%A Newcomb, Polly A
%A van Os, Theo A M
%A Pearlman, Rachel
%A Pineda, Marta
%A Rahner, Nils
%A Redeker, Egbert J W
%A Olderode-Berends, Maran J W
%A Rosty, Christophe
%A Schackert, Hans K
%A Scott, Rodney
%A Senter, Leigha
%A Spruijt, Liesbeth
%A Steinke-Lange, Verena
%A Suerink, Manon
%A Thibodeau, Stephen
%A Vos, Yvonne J
%A Wagner, Anja
%A Winship, Ingrid
%A Hes, Frederik J
%A Vasen, Hans F A
%A Wijnen, Juul T
%A Nielsen, Maartje
%A Win, Aung Ko
%T Cancer Risks for PMS2-Associated Lynch Syndrome.
%J Journal of clinical oncology
%V 36
%N 29
%@ 1527-7755
%C Alexandria, Va.
%I American Society of Clinical Oncology
%M DKFZ-2019-03147
%P 2961 - 2968
%D 2018
%X Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for PMS2-associated Lynch syndrome. Using a large data set from a worldwide collaboration, our aim was to determine accurate penetrance measures of cancers for carriers of heterozygous pathogenic PMS2 variants.A modified segregation analysis was conducted that incorporated both genotyped and nongenotyped relatives, with conditioning for ascertainment to estimates corrected for bias. Hazard ratios (HRs) and corresponding 95
%K PMS2 protein, human (NLM Chemicals)
%K Mismatch Repair Endonuclease PMS2 (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30161022
%2 pmc:PMC6349460
%R 10.1200/JCO.2018.78.4777
%U https://inrepo02.dkfz.de/record/148599