Breast cancer genome-wide association studies: There is strength in numbers

Oncogene

Volumn 31, Issue 17, 2012, Pages 2121-2128

  Fanale, D ^a   Amodeo, V ^a   Corsini, L R ^a   Rizzo, S ^a   Bazan, V ^a,b   Russo, A ^a,b  

^a UNIVERSITY OF PALERMO   (Italy)

^b Temple University   (United States)

Author keywords

FGFR2; GWAS; H19; LSP1; MAP3K1; TNRC9

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; DNA; ESTROGEN RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE 1; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53;

APOPTOSIS; BONE METASTASIS; BREAST CANCER; CANCER RISK; CELL CYCLE; CELL METABOLISM; CORRELATION ANALYSIS; DNA REPAIR; FEMALE; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCUS; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; H19 GENE; HUMAN; INTRON; LYMPHOCYTE SPECIFIC PROTEIN 1 GENE; MITOCHONDRION; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TNRC9 GENE; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MAP KINASE KINASE KINASE 1; MICROFILAMENT PROTEINS; MULTIFACTORIAL INHERITANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, PROGESTERONE;

EID: 84860290615     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/onc.2011.408     Document Type: Review

References (57)

1. Adnane J, Gaudray P, Dionne CA, Crumley G, Jaye M, Schlessinger J. et al. (1991). BEK and FLG, two receptors to members of the FGF family, are amplified in subsets of human breast cancers. Oncogene 6: 659-663.
2. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R. et al. (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585-590.
3. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL. et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72: 1117-1130.
4. Antoniou AC, Easton DF. (2006). Models of genetic susceptibility to breast cancer. Oncogene 25: 5898-5905.
5. Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T. et al. (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 18: 4442-4456.
6. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK. et al. (2008). Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 82: 937-948.
7. Bild AH, Yao G, Chang JT, Wang Q, Potti A, Chasse D. et al. (2006). Oncogenic pathway signatures in human cancers as a guide to targeted therapies. Nature 439: 353-357.
8. Braun R, Buetow K. (2011). Pathways of distinction analysis: a new technique for multi-SNP analysis of GWAS data. PLoS Genet 7: e1002101.
9. Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS. et al. (2011). Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 20: 3289-3303.
10. Cerhan JR, Ansell SM, Fredericksen ZS, Kay NE, Liebow M, Call TG. et al. (2007). Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma. Blood 110: 4455-4463.
11. Creighton CJ, Hilger AM, Murthy S, Rae JM, Chinnaiyan AM, El-Ashry D. (2006). Activation of mitogen-activated protein kinase in estrogen receptor alpha-positive breast cancer cells in vitro induces an in vivo molecular phenotype of estrogen receptor alphanegative human breast tumors. Cancer Res 66: 3903-3911.
12. Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR. et al. (2003). Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 95: 448-457.
13. Easton DF, Eeles RA. (2008). Genome-wide association studies in cancer. Hum Mol Genet 17: R109-R115.
14. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG. et al. (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087-1093.
15. FitzGerald MG, Marsh DJ, Wahrer D, Bell D, Caron S, Shannon KE. et al. (1998). Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene 17: 727-731.
16. Fu YP, Edvardsen H, Kaushiva A, Arhancet JP, Howe TM, Kohaar I. et al. (2010). NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations. Mol Cancer 9: 113.
17. Garcia-Closas M, Chanock S. (2008). Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res 14: 8000-8009.
18. Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA. et al. (2008). Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet 4: e1000054.
19. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J. et al. (2008). Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci USA 105: 4340-4345.
20. Hashimoto T, Shindo Y, Souri M, Baldwin GS. (1996). A new inhibitor of mitochondrial fatty acid oxidation. J Biochem 119: 1196-1201.
21. Hirshfield KM, Rebbeck TR, Levine AJ. (2010). Germline mutations and polymorphisms in the origins of cancers in women. J Oncol 2010: 297671.
22. Hollestelle A, Wasielewski M, Martens JW, Schutte M. (2010). Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 20: 268-276.
23. Houlston RS, Peto J. (2004). The search for low-penetrance cancer susceptibility alleles. Oncogene 23: 6471-6476.
24. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE. et al. (2007). A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
25. Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. (2001). Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet 94: 121-126.
26. Kristensen VN, Borresen-Dale AL. (2008). SNPs associated with molecular subtypes of breast cancer: on the usefulness of stratified Genome-wide Association Studies (GWAS) in the identification of novel susceptibility loci. Mol Oncol 2: 12-15.
27. Luqmani YA, Graham M, Coombes RC. (1992). Expression of basic fibroblast growth factor, FGFR1 and FGFR2 in normal and malignant human breast, and comparison with other normal tissues. Br J Cancer 66: 273-280.
28. Mani A, Gelmann EP. (2005). The ubiquitin-proteasome pathway and its role in cancer. J Clin Oncol 23: 4776-4789.
29. Marafioti T, Jabri L, Pulford K, Brousset P, Mason DY, Delsol G. (2003). Leucocyte-specific protein (LSP1) in malignant lymphoma and Hodgkin's disease. Br J Haematol 120: 671-678.
30. McInerney N, Colleran G, Rowan A, Walther A, Barclay E, Spain S. et al. (2009). Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat 117: 151-159.
31. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R. et al. (2002). Low-penetrance susceptibility to breast cancer due to CHEK2(.*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59.
32. Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, Caldas C. et al. (2008). Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol 6: e108.
33. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S. et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71.
34. Moffa AB, Ethier SP. (2007). Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells. J Cell Physiol 210: 720-731.
35. Nordgard SH, Johansen FE, Alnaes GI, Naume B, Borresen-Dale AL, Kristensen VN. (2007). Genes harbouring susceptibility SNPs are differentially expressed in the breast cancer subtypes. Breast Cancer Res 9: 113.
36. Orr N, Chanock S. (2008). Common genetic variation and human disease. Adv Genet 62: 1-32.
37. Parkin DM, Bray F, Ferlay J, Pisani P. (2005). Global cancer statistics, 2002. CA Cancer J Clin 55: 74-108.
38. Peto J. (2002). Breast cancer susceptibility-A new look at an old model. Cancer Cell 1: 411-412.
39. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N. et al. (1999). Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91: 943-949.
40. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. (2002). Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31: 33-36.
41. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A. et al. (2007). PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39: 165-167.
42. Ricol D, Cappellen D, El Marjou A, Gil-Diez-de-Medina S, Girault JM, Yoshida T. et al. (1999). Tumour suppressive properties of fibroblast growth factor receptor 2-IIIb in human bladder cancer. Oncogene 18: 7234-7243.
43. Rosa-Rosa JM, Pita G, Urioste M, Llort G, Brunet J, Lazaro C. et al. (2009). Genome-wide linkage scan reveals three putative breastcancer- susceptibility loci. Am J Hum Genet 84: 115-122.
44. Ruiz-Narvaez EA, Rosenberg L, Rotimi CN, Cupples LA, Boggs DA, Adeyemo A. et al. (2010). Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women's Health Study. Breast Cancer Res Treat 123: 525-530.
45. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B. et al. (1992). Inherited p53 gene mutations in breast cancer. Cancer Res 52: 2984-2986.
46. Smid M, Wang Y, Klijn JG, Sieuwerts AM, Zhang Y, Atkins D. et al. (2006). Genes associated with breast cancer metastatic to bone. J Clin Oncol 24: 2261-2267.
47. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H. et al. (2001). Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci USA 98: 10869-10874.
48. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A. et al. (2003). Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100: 8418-8423.
49. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA. et al. (2007). Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39: 865-869.
50. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, Jonsson GF. et al. (2008). Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 40: 703-706.
51. Tamaru N, Hishikawa Y, Ejima K, Nagasue N, Inoue S, Muramatsu M. et al. (2004). Estrogen receptor-associated expression of keratinocyte growth factor and its possible role in the inhibition of apoptosis in human breast cancer. Lab Invest 84: 1460-1471.
52. Tannheimer SL, Rehemtulla A, Ethier SP. (2000). Characterization of fibroblast growth factor receptor 2 overexpression in the qhuman breast cancer cell line SUM-52PE. Breast Cancer Res 2: 311-320.
53. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A. et al. (2005). Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97: 813-822.
54. Thompson D, Easton D. (2004). The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9: 221-236.
55. Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L. et al. (2010). Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 19: 2886-2897.
56. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J. et al. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792.
57. Zhang Y, Gorry MC, Post JC, Ehrlich GD. (1999). Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family. Gene 230: 69-79.