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A rare germline CDKN2A variant (47T>G; p16-L16R) predisposes carriers to pancreatic cancer by reducing cell cycle inhibition.
Horn IP, Marks DL, Koenig AN, Hogenson TL, Almada LL, Goldstein LE, Romecin Duran PA, Vera R, Vrabel AM, Cui G, Rabe KG, Bamlet WR, Mer G, Sicotte H, Zhang C, Li H, Petersen GM, Fernandez-Zapico ME. Horn IP, et al. Among authors: rabe kg. J Biol Chem. 2021 Jan-Jun;296:100634. doi: 10.1016/j.jbc.2021.100634. Epub 2021 Apr 3. J Biol Chem. 2021. PMID: 33823155 Free PMC article.
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
Hahnloser D, Petersen GM, Rabe K, Snow K, Lindor NM, Boardman L, Koch B, Doescher D, Wang L, Steenblock K, Thibodeau SN. Hahnloser D, et al. Cancer Epidemiol Biomarkers Prev. 2003 Oct;12(10):1023-8. Cancer Epidemiol Biomarkers Prev. 2003. PMID: 14578138
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, Gallinger S, Bapat B, Aronson M, Hopper J, Jass J, LeMarchand L, Grove J, Potter J, Newcomb P, Terdiman JP, Conrad P, Moslein G, Goldberg R, Ziogas A, Anton-Culver H, de Andrade M, Siegmund K, Thibodeau SN, Boardman LA, Seminara D. Lindor NM, et al. JAMA. 2005 Apr 27;293(16):1979-85. doi: 10.1001/jama.293.16.1979. JAMA. 2005. PMID: 15855431 Free PMC article.
Pancreatic cancer genetic epidemiology consortium.
Petersen GM, de Andrade M, Goggins M, Hruban RH, Bondy M, Korczak JF, Gallinger S, Lynch HT, Syngal S, Rabe KG, Seminara D, Klein AP. Petersen GM, et al. Among authors: rabe kg. Cancer Epidemiol Biomarkers Prev. 2006 Apr;15(4):704-10. doi: 10.1158/1055-9965.EPI-05-0734. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 16614112
161 results