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New breast cancer genes discovered



A major international study has identified five new areas in the human genome that affect the risk of developing breast cancer. Their findings reveal that the hereditary components of the disease are located at sites completely different to those where scientists have long been looking.
The large internationally collaborative study, which is presented in the journal Nature, is based on a unique study of the genomes of over 40,000 women. The scientists have now found five genetic variants that are more common in women with breast cancer than in healthy women.

"We can associate four of these variants to specific genes, and it is only one of these genes that scientists previously suspected as being associated with breast cancer," says Per Hall, one of the research scientists at Karolinska Institutet involved in the study. "This gene has nothing to do with oestrogen, which is in itself very surprising. The other genes still remain largely uncharted and are completely new for breast cancer research."
In the 1990s, it was discovered that rare hereditary mutations of a handful of genes, such as BRCA1 and BRCA2, can greatly increase the risk of breast cancer. The gene variants that how now been linked to breast cancer are, on the other hand, extremely common. Taken individually, each one has only a very small effect; in combination, however, such small changes are likely to be highly significant. The knowledge of which variants cause breast cancer can lead to the development of more effective drugs.
"Our objective is also to identify high-risk women at an early stage, so that we can give them more frequent mammographic examination and take preventative measures when they become available. This we can do by carrying out more large-scale studies of this type," says Per Hall.
Publication:
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X; kConFab; AOCS Management Group, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, Ponder BA.
Genome-wide association study identifies novel breast cancer susceptibility loci
Nature, 2007 Jun 28;447(7148):1087-93
Link to the abstract in PubMed

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