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The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: gruber sb. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.
Raskin L, Schwenter F, Freytsis M, Tischkowitz M, Wong N, Chong G, Narod SA, Levine DA, Bogomolniy F, Aronson M, Thibodeau SN, Hunt KS, Rennert G, Gallinger S, Gruber SB, Foulkes WD. Raskin L, et al. Among authors: gruber sb. Clin Genet. 2011 Jun;79(6):512-22. doi: 10.1111/j.1399-0004.2010.01594.x. Epub 2010 Dec 14. Clin Genet. 2011. PMID: 21155762 Free PMC article.
An American founder mutation in MLH1.
Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A. Tomsic J, et al. Among authors: gruber sb. Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. Int J Cancer. 2012. PMID: 21671475 Free PMC article.
Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort.
Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, Gruber SB, Ford JM, Euhus D, Lebensohn A, Telli M, Pochebit SM, Lypas G, Garber JE. Masciari S, et al. Among authors: gruber sb. Breast Cancer Res Treat. 2012 Jun;133(3):1125-30. doi: 10.1007/s10549-012-1993-9. Epub 2012 Mar 4. Breast Cancer Res Treat. 2012. PMID: 22392042 Free PMC article.
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. Li L, et al. Among authors: gruber sb. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. J Med Genet. 2015. PMID: 25691505
Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M, Rennert HS, Shi W, Thomas DC, Van Den Berg DJ, Hutter CM, Aragaki AK, Butterbach K, Caan BJ, Carlson CS, Chanock SJ, Curtis KR, Fuchs CS, Gala M, Giovannucci EL, Gogarten SM, Hayes RB, Henderson B, Hunter DJ, Jackson RD, Kolonel LN, Kooperberg C, Küry S, LaCroix A, Laurie CC, Laurie CA, Lemire M, Levine D, Ma J, Makar KW, Qu C, Taverna D, Ulrich CM, Wu K, Kono S, West DW, Berndt SI, Bezieau S, Brenner H, Campbell PT, Chan AT, Chang-Claude J, Coetzee GA, Conti DV, Duggan D, Figueiredo JC, Fortini BK, Gallinger SJ, Gauderman WJ, Giles G, Green R, Haile R, Harrison TA, Hoffmeister M, Hopper JL, Hudson TJ, Jacobs E, Iwasaki M, Jee SH, Jenkins M, Jia WH, Joshi A, Li L, Lindor NM, Matsuo K, Moreno V, Mukherjee B, Newcomb PA, Potter JD, Raskin L, Rennert G, Rosse S, Severi G, Schoen RE, Seminara D, Shu XO, Slattery ML, Tsugane S, White E, Xiang YB, Zanke BW, Zheng W, Le Marchand L, Casey G, Gruber SB, Peters U. Schumacher FR, et al. Among authors: gruber sb. Nat Commun. 2015 Jul 7;6:7138. doi: 10.1038/ncomms8138. Nat Commun. 2015. PMID: 26151821 Free PMC article.
338 results