Large-scale genotyping identifies 41 new loci associated with breast cancer risk

@article{Michailidou2013LargescaleGI,
  title={Large-scale genotyping identifies 41 new loci associated with breast cancer risk},
  author={K. Michailidou and P. Hall and A. Gonz{\'a}lez-Neira and M. Ghoussaini and J. Dennis and R. Milne and Marjanka K. Schmidt and J. Chang-Claude and S. Bojesen and M. Bolla and Qin Wang and E. Dicks and Andrew Lee and C. Turnbull and N. Rahman and O. Fletcher and J. Peto and L. Gibson and I. D. S. Silva and H. Nevanlinna and T. Muranen and K. Aittom{\"a}ki and C. Blomqvist and K. Czene and A. Irwanto and Jianjun Liu and Q. Waisfisz and H. Meijers-Heijboer and M. Adank and R. B. Luijt and R. Hein and N. Dahmen and L. Beckman and A. Meindl and R. Schmutzler and B. M{\"u}ller-Myhsok and P. Lichtner and J. Hopper and M. Southey and E. Makalic and D. Schmidt and A. Uitterlinden and A. Hofman and D. Hunter and S. Chanock and Daniel Vincent and F. Bacot and D. Tessier and S. Canisius and L. Wessels and C. Haiman and M. Shah and R. Luben and Judith Brown and C. Luccarini and N. Schoof and K. Humphreys and Jingmei Li and B. Nordestgaard and S. Nielsen and H. Flyger and F. Couch and Xianshu Wang and C. Vachon and K. Stevens and D. Lambrechts and Matthieu Moisse and R. Paridaens and M. Christiaens and A. Rudolph and S. Nickels and D. Flesch‐Janys and N. Johnson and Z. Aitken and K. Aaltonen and T. Heikkinen and A. Broeks and L. J. Veer and C. V. D. Schoot and P. Gu{\'e}nel and T. Truong and P. Laurent-Puig and F. Menegaux and F. Marm{\'e} and A. Schneeweiss and C. Sohn and B. Burwinkel and M. P. Zamora and J. I. P{\'e}rez and G. Pita and M. R. Alonso and A. Cox and I. Brock and S. Cross and M. Reed and E. Sawyer and I. Tomlinson and M. Kerin and N. Miller and B. Henderson and F. Schumacher and L. Marchand and I. Andrulis and J. Knight and G. Glendon and A. Mulligan and A. Lindblom and S. Margolin and M. Hooning and A. Hollestelle and A. Ouweland and A. Jager and Q. Bui and J. Stone and G. Dite and C. Apicella and H. Tsimiklis and G. Giles and G. Severi and L. Baglietto and P. Fasching and L. Haeberle and A. Ekici and M. Beckmann and H. Brenner and H. M{\"u}ller and V. Arndt and C. Stegmaier and A. Swerdlow and A. Ashworth and N. Orr and Michael Jones and J. Figueroa and J. Lissowska and L. Brinton and M. Goldberg and F. Labr{\`e}che and M. Dumont and R. Winqvist and K. Pylk{\"a}s and A. Jukkola-Vuorinen and M. Grip and H. Brauch and U. Hamann and T. Br{\"u}ning and P. Radice and P. Peterlongo and S. Manoukian and B. Bonanni and P. Devilee and R. Tollenaar and C. Seynaeve and C. Asperen and A. Jakubowska and J. Lubiński and Katarzyna Jaworska and K. Durda and A. Mannermaa and V. Kataja and V. Kosma and J. Hartikainen and N. Bogdanova and N. Antonenkova and T. D{\"o}rk and V. Kristensen and H. Anton-Culver and S. Slager and A. Toland and Stephen Edge and F. Fostira and D. Kang and K. Yoo and D. Noh and K. Matsuo and Hidemi Ito and H. Iwata and Aiko Sueta and A. Wu and C. Tseng and D. V. Berg and D. Stram and X. Shu and W. Lu and Yu-tang Gao and H. Cai and S. Teo and C. Yip and S. Phuah and B. Cornes and M. Hartman and H. Miao and W. Lim and J. Sng and K. Muir and A. Lophatananon and S. Stewart-Brown and P. Siriwanarangsan and C. Shen and Chia-Ni Hsiung and Pei-Ei Wu and S. Ding and S. Sangrajrang and V. Gaborieau and P. Brennan and J. Mckay and W. Blot and L. Signorello and Q. Cai and W. Zheng and S. Deming-Halverson and M. Shrubsole and J. Long and J. Simard and M. Garc{\'i}a-Closas and P. Pharoah and G. Chenevix-Trench and A. Dunning and J. Ben{\'i}tez and D. Easton},
  journal={Nature Genetics},
  year={2013},
  volume={45},
  pages={353-361}
}
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European… Expand
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References

SHOWING 1-10 OF 77 REFERENCES
Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation. Expand
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
TLDR
Four SNPs in intron 2 of FGFR2 (which encodes a receptor tyrosine kinase and is amplified or overexpressed in some breast cancers) that were highly associated with breast cancer were identified and confirmed in 1,776 affected individuals and 2,072 controls from three additional studies. Expand
Genome-wide association study identifies five new breast cancer susceptibility loci
TLDR
Previously identified breast cancer susceptibility loci were found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease. Expand
Genome-wide association analysis identifies three new breast cancer susceptibility loci
TLDR
Three new breast cancer risk loci are identified at 12p11, 12q24 and 21q21, which lie in regions that contain strong plausible candidate genes: PTHLH has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 encodes an ER cofactor and has a role in the regulation of breast cancer cell growth. Expand
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
TLDR
An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer. Expand
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
TLDR
A comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers and may have clinical utility for women with BRCa2 mutations weighing options for medical prevention of breast cancer. Expand
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer
TLDR
Two SNPs consistently associated with breast cancer are identified: rs3803662 is near the 5′ end of TNRC9 , a high mobility group chromatin–associated protein whose expression is implicated in breast cancer metastasis to bone. Expand
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
TLDR
The largest meta-analysis of ER-negative disease to date, comprising 4754 ER- negative cases and 31 663 controls from three GWAS, identified two novel loci for breast cancer at 20q11 and 6q14 and confirmed three known loci associated with ER- Negative, triple negative and ER-positive breast cancer. Expand
Genome-wide association study identifies a novel breast cancer susceptibility locus at 6q25.1
We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing 607,728 SNPs in 1,505 cases and 1,522 controls, we selected 29 SNPs forExpand
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
TLDR
Strong evidence is found for additional susceptibility loci on 3p and 17q and potential causative genes include SLC4A7 and NEK10 on3p and COX11 on 17q. Expand
...
1
2
3
4
5
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