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000148599 1001_ $$aTen Broeke, Sanne W$$b0
000148599 245__ $$aCancer Risks for PMS2-Associated Lynch Syndrome.
000148599 260__ $$aAlexandria, Va.$$bAmerican Society of Clinical Oncology$$c2018
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000148599 520__ $$aLynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for PMS2-associated Lynch syndrome. Using a large data set from a worldwide collaboration, our aim was to determine accurate penetrance measures of cancers for carriers of heterozygous pathogenic PMS2 variants.A modified segregation analysis was conducted that incorporated both genotyped and nongenotyped relatives, with conditioning for ascertainment to estimates corrected for bias. Hazard ratios (HRs) and corresponding 95% CIs were estimated for each cancer site for mutation carriers compared with the general population, followed by estimation of penetrance.In total, 284 families consisting of 4,878 first- and second-degree family members were included in the analysis. PMS2 mutation carriers were at increased risk for colorectal cancer (cumulative risk to age 80 years of 13% [95% CI, 7.9% to 22%] for males and 12% [95% CI, 6.7% to 21%] for females) and endometrial cancer (13% [95% CI, 7.0%-24%]), compared with the general population (6.6%, 4.7%, and 2.4%, respectively). There was no clear evidence of an increased risk of ovarian, gastric, hepatobiliary, bladder, renal, brain, breast, prostate, or small bowel cancer.Heterozygous PMS2 mutation carriers were at small increased risk for colorectal and endometrial cancer but not for any other Lynch syndrome-associated cancer. This finding justifies that PMS2-specific screening protocols could be restricted to colonoscopies. The role of risk-reducing hysterectomy and bilateral salpingo-oophorectomy for PMS2 mutation carriers needs further discussion.
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000148599 650_7 $$0EC 3.6.1.-$$2NLM Chemicals$$aPMS2 protein, human
000148599 650_7 $$0EC 3.6.1.3$$2NLM Chemicals$$aMismatch Repair Endonuclease PMS2
000148599 7001_ $$avan der Klift, Heleen M$$b1
000148599 7001_ $$aTops, Carli M J$$b2
000148599 7001_ $$aAretz, Stefan$$b3
000148599 7001_ $$aBernstein, Inge$$b4
000148599 7001_ $$aBuchanan, Daniel D$$b5
000148599 7001_ $$ade la Chapelle, Albert$$b6
000148599 7001_ $$aCapella, Gabriel$$b7
000148599 7001_ $$aClendenning, Mark$$b8
000148599 7001_ $$aEngel, Christoph$$b9
000148599 7001_ $$aGallinger, Steven$$b10
000148599 7001_ $$aGomez Garcia, Encarna$$b11
000148599 7001_ $$aFigueiredo, Jane C$$b12
000148599 7001_ $$aHaile, Robert$$b13
000148599 7001_ $$aHampel, Heather L$$b14
000148599 7001_ $$aHopper, John L$$b15
000148599 7001_ $$aHoogerbrugge, Nicoline$$b16
000148599 7001_ $$0P:(DE-He78)11747cd1dc061b9333c0e3a3ff31bf2f$$avon Knebel Doeberitz, Magnus$$b17$$udkfz
000148599 7001_ $$aLe Marchand, Loic$$b18
000148599 7001_ $$aLetteboer, Tom G W$$b19
000148599 7001_ $$aJenkins, Mark A$$b20
000148599 7001_ $$aLindblom, Annika$$b21
000148599 7001_ $$aLindor, Noralane M$$b22
000148599 7001_ $$aMensenkamp, Arjen R$$b23
000148599 7001_ $$aMøller, Pål$$b24
000148599 7001_ $$aNewcomb, Polly A$$b25
000148599 7001_ $$avan Os, Theo A M$$b26
000148599 7001_ $$aPearlman, Rachel$$b27
000148599 7001_ $$aPineda, Marta$$b28
000148599 7001_ $$aRahner, Nils$$b29
000148599 7001_ $$aRedeker, Egbert J W$$b30
000148599 7001_ $$aOlderode-Berends, Maran J W$$b31
000148599 7001_ $$aRosty, Christophe$$b32
000148599 7001_ $$aSchackert, Hans K$$b33
000148599 7001_ $$aScott, Rodney$$b34
000148599 7001_ $$aSenter, Leigha$$b35
000148599 7001_ $$aSpruijt, Liesbeth$$b36
000148599 7001_ $$aSteinke-Lange, Verena$$b37
000148599 7001_ $$aSuerink, Manon$$b38
000148599 7001_ $$aThibodeau, Stephen$$b39
000148599 7001_ $$aVos, Yvonne J$$b40
000148599 7001_ $$aWagner, Anja$$b41
000148599 7001_ $$aWinship, Ingrid$$b42
000148599 7001_ $$aHes, Frederik J$$b43
000148599 7001_ $$aVasen, Hans F A$$b44
000148599 7001_ $$aWijnen, Juul T$$b45
000148599 7001_ $$aNielsen, Maartje$$b46
000148599 7001_ $$aWin, Aung Ko$$b47
000148599 773__ $$0PERI:(DE-600)2005181-5$$a10.1200/JCO.2018.78.4777$$gVol. 36, no. 29, p. 2961 - 2968$$n29$$p2961 - 2968$$tJournal of clinical oncology$$v36$$x1527-7755$$y2018
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