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Germline PKHD1 mutations are protective against colorectal cancer.
Ward CJ, Wu Y, Johnson RA, Woollard JR, Bergstralh EJ, Cicek MS, Bakeberg J, Rossetti S, Heyer CM, Petersen GM, Lindor NM, Thibodeau SN, Harris PC, Torres VE, Hogan MC, Boardman LA. Ward CJ, et al. Hum Genet. 2011 Mar;129(3):345-9. doi: 10.1007/s00439-011-0950-8. Epub 2011 Jan 28. Hum Genet. 2011. PMID: 21274727 Free PMC article.
Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers.
Win AK, Dowty JG, Antill YC, English DR, Baron JA, Young JP, Giles GG, Southey MC, Winship I, Lipton L, Parry S, Thibodeau SN, Haile RW, Gallinger S, Le Marchand L, Lindor NM, Newcomb PA, Hopper JL, Jenkins MA. Win AK, et al. Obstet Gynecol. 2011 Apr;117(4):899-905. doi: 10.1097/AOG.0b013e3182110ea3. Obstet Gynecol. 2011. PMID: 21422863 Free PMC article.
Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.
Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators. Poynter JN, et al. Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3208-15. doi: 10.1158/1055-9965.EPI-08-0512. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 18990764 Free PMC article.