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Page 1
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC. Yang X, et al. Among authors: gruber sb. J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. J Natl Cancer Inst. 2020. PMID: 32107557 Free PMC article.
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G. Borràs E, et al. Among authors: gruber sb. Cancer Res. 2010 Oct 1;70(19):7379-91. doi: 10.1158/0008-5472.CAN-10-0570. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858721 Free 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.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H, Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P, Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L, Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A, Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY, Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, Roozendaal CE; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H, Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman N, Karlsson P, Ehrencrona H, Wachenfeldt Av; SWE-BRCA; Barkardottir RB, Hamann U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G, Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Miron A, … See abstract for full author list ➔ Maxwell CA, et al. Among authors: gruber sb. PLoS Biol. 2011 Nov;9(11):e1001199. doi: 10.1371/journal.pbio.1001199. Epub 2011 Nov 15. PLoS Biol. 2011. PMID: 22110403 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.
Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers.
Mukherjee B, Delancey JO, Raskin L, Everett J, Jeter J, Begg CB, Orlow I, Berwick M, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Culver HA, Rosso S, Zanetti R, Kanetsky PA, From L, Gruber SB; GEM Study Investigators. Mukherjee B, et al. Among authors: gruber sb. J Natl Cancer Inst. 2012 Jun 20;104(12):953-6. doi: 10.1093/jnci/djs221. Epub 2012 Apr 24. J Natl Cancer Inst. 2012. PMID: 22534780 Free PMC article.
Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome.
Yurgelun MB, Mercado R, Rosenblatt M, Dandapani M, Kohlmann W, Conrad P, Blanco A, Shannon KM, Chung DC, Terdiman J, Gruber SB, Garber JE, Syngal S, Stoffel EM. Yurgelun MB, et al. Among authors: gruber sb. Gynecol Oncol. 2012 Dec;127(3):544-51. doi: 10.1016/j.ygyno.2012.08.031. Epub 2012 Aug 29. Gynecol Oncol. 2012. PMID: 22940489 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
338 results