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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: nevanlinna h. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
A missense mutation in the BRCA2 gene in three siblings with ovarian cancer.
Roth S, Kristo P, Auranen A, Shayehgi M, Seal S, Collins N, Barfoot R, Rahman N, Klemi PJ, Grénman S, Sarantaus L, Nevanlinna H, Butzow R, Ashworth A, Stratton MR, Aaltonen LA. Roth S, et al. Among authors: nevanlinna h. Br J Cancer. 1998 Apr;77(8):1199-202. doi: 10.1038/bjc.1998.202. Br J Cancer. 1998. PMID: 9579822 Free PMC article.
Cancer risks in BRCA2 mutation carriers.
Breast Cancer Linkage Consortium. Breast Cancer Linkage Consortium. J Natl Cancer Inst. 1999 Aug 4;91(15):1310-6. doi: 10.1093/jnci/91.15.1310. J Natl Cancer Inst. 1999. PMID: 10433620
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus.
Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders E, Rozenblum E, Freas-Lutz D, Weaver D, Stephan D, Bailey-Wilson J, Kallioniemi OP, Tirkkonen M, Syrjäkoski K, Kuukasjärvi T, Koivisto P, Karhu R, Holli K, Arason A, Johannesdottir G, Bergthorsson JT, Johannsdottir H, Egilsson V, Barkardottir RB, Johannsson O, Haraldsson K, Sandberg T, Holmberg E, Grönberg H, Olsson H, Borg A, Vehmanen P, Eerola H, Heikkila P, Pyrhönen S, Nevanlinna H. Kainu T, et al. Among authors: nevanlinna h. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9603-8. doi: 10.1073/pnas.97.17.9603. Proc Natl Acad Sci U S A. 2000. PMID: 10944226 Free PMC article.
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R, Nevanlinna H. Sarantaus L, et al. Among authors: nevanlinna h. Eur J Hum Genet. 2000 Oct;8(10):757-63. doi: 10.1038/sj.ejhg.5200529. Eur J Hum Genet. 2000. PMID: 11039575
Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population.
Pääkkönen K, Sauramo S, Sarantaus L, Vahteristo P, Hartikainen A, Vehmanen P, Ignatius J, Ollikainen V, Kääriäinen H, Vauramo E, Nevanlinna H, Krahe R, Holli K, Kere J. Pääkkönen K, et al. Among authors: nevanlinna h. Genet Epidemiol. 2001 Feb;20(2):239-46. doi: 10.1002/1098-2272(200102)20:2<239::AID-GEPI6>3.0.CO;2-Y. Genet Epidemiol. 2001. PMID: 11180449
507 results