TY  - JOUR
AU  - Ten Broeke, Sanne W
AU  - van der Klift, Heleen M
AU  - Tops, Carli M J
AU  - Aretz, Stefan
AU  - Bernstein, Inge
AU  - Buchanan, Daniel D
AU  - de la Chapelle, Albert
AU  - Capella, Gabriel
AU  - Clendenning, Mark
AU  - Engel, Christoph
AU  - Gallinger, Steven
AU  - Gomez Garcia, Encarna
AU  - Figueiredo, Jane C
AU  - Haile, Robert
AU  - Hampel, Heather L
AU  - Hopper, John L
AU  - Hoogerbrugge, Nicoline
AU  - von Knebel Doeberitz, Magnus
AU  - Le Marchand, Loic
AU  - Letteboer, Tom G W
AU  - Jenkins, Mark A
AU  - Lindblom, Annika
AU  - Lindor, Noralane M
AU  - Mensenkamp, Arjen R
AU  - Møller, Pål
AU  - Newcomb, Polly A
AU  - van Os, Theo A M
AU  - Pearlman, Rachel
AU  - Pineda, Marta
AU  - Rahner, Nils
AU  - Redeker, Egbert J W
AU  - Olderode-Berends, Maran J W
AU  - Rosty, Christophe
AU  - Schackert, Hans K
AU  - Scott, Rodney
AU  - Senter, Leigha
AU  - Spruijt, Liesbeth
AU  - Steinke-Lange, Verena
AU  - Suerink, Manon
AU  - Thibodeau, Stephen
AU  - Vos, Yvonne J
AU  - Wagner, Anja
AU  - Winship, Ingrid
AU  - Hes, Frederik J
AU  - Vasen, Hans F A
AU  - Wijnen, Juul T
AU  - Nielsen, Maartje
AU  - Win, Aung Ko
TI  - Cancer Risks for PMS2-Associated Lynch Syndrome.
JO  - Journal of clinical oncology
VL  - 36
IS  - 29
SN  - 1527-7755
CY  - Alexandria, Va.
PB  - American Society of Clinical Oncology
M1  - DKFZ-2019-03147
SP  - 2961 - 2968
PY  - 2018
AB  - 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
KW  - PMS2 protein, human (NLM Chemicals)
KW  - Mismatch Repair Endonuclease PMS2 (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:30161022
C2  - pmc:PMC6349460
DO  - DOI:10.1200/JCO.2018.78.4777
UR  - https://inrepo02.dkfz.de/record/148599
ER  -