| WANG, X., V. S. PANKRATZ, Z. FREDERICKSEN, R. TARRELL, M. KARAUS, L. MCGUFFOG, Paul D. P. PHARAOH, B. PONDER, A.M. DUNNING, S. PEOCK, M. COOK, C. OLIVER, D. FROST, O. SINILNIKOVA, D. STOPPA-LYONNET, S. MAZOYER, C. HOUDAYER, Frans B. L. HOGERVORST, M. HOONING, M. LIGTENBERG, A. SPURDLE, G. CHENEVIX-TRENCH, R. SCHMUTZLER, B. WAPPENSCHMIDT, Ch. ENGEL, A. MEINDL, S. DOMCHEK, K. NATHANSON, T. REBBECK, Ch. SINGER, D. GSCHWANTLER-KAULICH, C. DRESSLER, A. FINK, C. SZABO, M. ZIKAN, Lenka FORETOVÁ, K. CLAES, G. THOMAS, R. HOOVER, D. HUNTER, S. CHANOCK, D. EASTON, A. ANTONIOU and F. COUCH. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Human molecular genetics. 2010, vol. 19, No 14, p. 2886-2897. ISSN 0964-6906. Available from: https://dx.doi.org/10.1093/hmg/ddq174. |
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@article{923443,
author = {Wang, X. and Pankratz, V. S. and Fredericksen, Z. and Tarrell, R. and Karaus, M. and McGuffog, L. and Pharaoh, Paul D. P. and Ponder, B. and Dunning, A.M. and Peock, S. and Cook, M. and Oliver, C. and Frost, D. and Sinilnikova, O. and StoppaandLyonnet, D. and Mazoyer, S. and Houdayer, C. and Hogervorst, Frans B. L. and Hooning, M. and Ligtenberg, M. and Spurdle, A. and ChenevixandTrench, G. and Schmutzler, R. and Wappenschmidt, B. and Engel, Ch. and Meindl, A. and Domchek, S. and Nathanson, K. and Rebbeck, T. and Singer, Ch. and GschwantlerandKaulich, D. and Dressler, C. and Fink, A. and Szabo, C. and Zikan, M. and Foretová, Lenka and Claes, K. and Thomas, G. and Hoover, R. and Hunter, D. and Chanock, S. and Easton, D. and Antoniou, A. and Couch, F.},
article_number = {14},
doi = {http://dx.doi.org/10.1093/hmg/ddq174},
keywords = {ESTROGEN-RECEPTOR; CONFER SUSCEPTIBILITY; GENETIC-VARIATION; ALLELES; PREDISPOSITION; INVESTIGATORS; POLYMORPHISM; CONSORTIUM; COMPLEX; MODEL},
language = {eng},
issn = {0964-6906},
journal = {Human molecular genetics},
title = {Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers},
volume = {19},
year = {2010}
}
TY - JOUR
ID - 923443
AU - Wang, X. - Pankratz, V. S. - Fredericksen, Z. - Tarrell, R. - Karaus, M. - McGuffog, L. - Pharaoh, Paul D. P. - Ponder, B. - Dunning, A.M. - Peock, S. - Cook, M. - Oliver, C. - Frost, D. - Sinilnikova, O. - Stoppa-Lyonnet, D. - Mazoyer, S. - Houdayer, C. - Hogervorst, Frans B. L. - Hooning, M. - Ligtenberg, M. - Spurdle, A. - Chenevix-Trench, G. - Schmutzler, R. - Wappenschmidt, B. - Engel, Ch. - Meindl, A. - Domchek, S. - Nathanson, K. - Rebbeck, T. - Singer, Ch. - Gschwantler-Kaulich, D. - Dressler, C. - Fink, A. - Szabo, C. - Zikan, M. - Foretová, Lenka - Claes, K. - Thomas, G. - Hoover, R. - Hunter, D. - Chanock, S. - Easton, D. - Antoniou, A. - Couch, F.
PY - 2010
TI - Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
JF - Human molecular genetics
VL - 19
IS - 14
SP - 2886-2897
EP - 2886-2897
SN - 09646906
KW - ESTROGEN-RECEPTOR
KW - CONFER SUSCEPTIBILITY
KW - GENETIC-VARIATION
KW - ALLELES
KW - PREDISPOSITION
KW - INVESTIGATORS
KW - POLYMORPHISM
KW - CONSORTIUM
KW - COMPLEX
KW - MODEL
N2 - Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 x 10(-3)) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (P(trend) < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69-0.90, P(trend) = 3.6 x 10(-4) and HR = 1.25, 95% CI: 1.10-1.41, P(trend) = 4.2 x 10(-4)), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25-1.92, P(trend) = 6 x 10(-5) and HR = 1.37, 95% CI: 1.16-1.62, P(trend) = 1.7 x 10(-4)). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.
ER -
WANG, X., V. S. PANKRATZ, Z. FREDERICKSEN, R. TARRELL, M. KARAUS, L. MCGUFFOG, Paul D. P. PHARAOH, B. PONDER, A.M. DUNNING, S. PEOCK, M. COOK, C. OLIVER, D. FROST, O. SINILNIKOVA, D. STOPPA-LYONNET, S. MAZOYER, C. HOUDAYER, Frans B. L. HOGERVORST, M. HOONING, M. LIGTENBERG, A. SPURDLE, G. CHENEVIX-TRENCH, R. SCHMUTZLER, B. WAPPENSCHMIDT, Ch. ENGEL, A. MEINDL, S. DOMCHEK, K. NATHANSON, T. REBBECK, Ch. SINGER, D. GSCHWANTLER-KAULICH, C. DRESSLER, A. FINK, C. SZABO, M. ZIKAN, Lenka FORETOVÁ, K. CLAES, G. THOMAS, R. HOOVER, D. HUNTER, S. CHANOCK, D. EASTON, A. ANTONIOU and F. COUCH. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. \textit{Human molecular genetics}. 2010, vol.~19, No~14, p.~2886-2897. ISSN~0964-6906. Available from: https://dx.doi.org/10.1093/hmg/ddq174.
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