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Refining the genetic risk of breast cancer with rare haplotypes and pattern mining.
Letsou, William; Wang, Fan; Moon, Wonjong; Im, Cindy; Sapkota, Yadav; Robison, Leslie L; Yasui, Yutaka.
Afiliación
  • Letsou W; Department of Biological & Chemical Sciences, New York Institute of Technology, Old Westbury, NY, USA wletsou@nyit.edu.
  • Wang F; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Moon W; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Im C; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Sapkota Y; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Robison LL; School of Public Health, University of Alberta, Edmonton, Canada.
  • Yasui Y; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
Life Sci Alliance ; 6(10)2023 10.
Article en En | MEDLINE | ID: mdl-37541849
Hundreds of common variants have been found to confer small but significant differences in breast cancer risk, supporting the widely accepted polygenic model of inherited predisposition. Using a novel closed-pattern mining algorithm, we provide evidence that rare haplotypes may refine the association of breast cancer risk with common germline alleles. Our method, called Chromosome Overlap, consists in iteratively pairing chromosomes from affected individuals and looking for noncontiguous patterns of shared alleles. We applied Chromosome Overlap to haplotypes of genotyped SNPs from female breast cancer cases from the UK Biobank at four loci containing common breast cancer-risk SNPs. We found two rare (frequency <0.1%) haplotypes bearing a GWAS hit at 11q13 (hazard ratio = 4.21 and 16.7) which replicated in an independent, European ancestry population at P < 0.05, and another at 22q12 (frequency <0.2%, hazard ratio = 2.58) which expanded the risk pool to noncarriers of a GWAS hit. These results suggest that rare haplotypes (or mutations) may underlie the "synthetic association" of breast cancer risk with at least some common variants.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Life Sci Alliance Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Life Sci Alliance Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos