Fine scale mapping of the breast cancer 16q12 locus.
Hum Mol Genet
; 19(12): 2507-15, 2010 Jun 15.
Article
en En
| MEDLINE
| ID: mdl-20332101
ABSTRACT
Recent genome-wide association studies have identified a breast cancer susceptibility locus on 16q12 with an unknown biological basis. We used a set of single nucleotide polymorphism (SNP) markers to generate a fine-scale map and narrowed the region of association to a 133 kb DNA segment containing the largely uncharacterized hypothetical gene LOC643714, a short intergenic region and the 5' end of TOX3. Re-sequencing this segment in European subjects identified 293 common polymorphisms, including a set of 26 highly correlated candidate causal variants. By evaluation of these SNPs in five breast cancer case-control studies involving more than 23 000 subjects from populations of European and Southeast Asian ancestry, all but 14 variants could be excluded at odds of <1100. Most of the remaining variants lie in the intergenic region, which exhibits evolutionary conservation and open chromatin conformation, consistent with a regulatory function. African-American case-control studies exhibit a different pattern of association suggestive of an additional causative variant.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
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Neoplasias de la Mama
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Predisposición Genética a la Enfermedad
Tipo de estudio:
Observational_studies
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Risk_factors_studies
Límite:
Female
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Humans
Idioma:
En
Año:
2010
Tipo del documento:
Article