CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies

Autor: Easton, D, McGuffog, L, Thompson, D, Dunning, AJ, Tee, L, Baynes, C, Healey, C, Pharoah, P, Ponder, BAJ, Seal, S, Barfoot, R, Sodha, N, Eeles, R, Stratton, MR, Rahman, N, Peto, J, Spurdle, AB, Chen, X, Chenevix-Trench, G, Hopper, JL, Giles, GG, McCredie, MRE, Syrjakoski, K, Holli, K, Kallioniemi, O-P, Eerola, H, Vahteristo, P, Blomqvist, C, Nevanlinna, H, Kataja, V, Mannermaa, A, Dork, T, Bremer, M, Deviljee, P, de Bock, GH, Krol-Warmerdam, EMM, Kroese-Jansema, K, Wijers-Koster, P, Cornelisse, CJ, Tollenaart, RAEM, Meijers-Heijboer, EJ, Berns, Els, Nagel, J, Foekens, John, Klijn, Jan, Schutte, Mieke

Publikováno v: American Journal of Human Genetics, 74(6), 1175-1182. CELL PRESS
American journal of human genetics, 74(6), 1175-1182. Cell Press
American Journal of Human Genetics, 74, 1175-1182. Cell Press

Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49acde0286de3c6f873c04388bedc1db
https://doi.org/10.1086/421251

Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer

Autor: CARLOMAGNO, Francesca, CHANG CLAUDE J, DUNNING AM, PONDER BAJ

Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. It shares a number of features with the Ataxia telangiectasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::d2a840a04fecca66d4a4edb24bb88db3
http://hdl.handle.net/11588/394281

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

Autor: Lakhani, SR, Gusterson, BA, Jacquemier, J, Sloane, JP, Anderson, TJ, van de Vijver, MJ, Venter, D, Freeman, A, Antoniou, A, McGuffog, L, Smyth, E, Steel, CM, Haites, N, Scott, RJ, Goldgar, D, Neuhausen, S, Daly, PA, Ormiston, W, Scherneck, S, Ponder, BAJ, Futreal, PA, Peto, J, Stoppa-Lyonnet, D, Bignon, Y-J, Struewing, JP, Bishop, DT, Klijn, Jan, Devilee, P, Cornelisse, CJ, Lasset, C, Lenoir, G, Barkadottir, RB, Egilsson, V, Hamann, U, Chang-Claude, J, Sobol, H, Weber, B, Easton, DF, Stratton, MR

Publikováno v: Clinical Cancer Research, 6, 782-789. American Association for Cancer Research Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::46363135cb5e723c77a5b24a63f9d75c
https://pure.eur.nl/en/publications/4dfc49de-5fe0-42c6-9bc2-59c223287e2c

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