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Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

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  • معلومة اضافية
    • Contributors:
      Canadian Institutes of Health Research; Norwegian Regional Health Authorities; Cancer Research UK (Reino Unido); Unión Europea; United States Department of Health and Human Services; Post-cancer GWAS Initiative; Dutch Cancer Society (Holanda); Instituto de Salud Carlos III; California Breast Cancer Research Program; California Department of Public Health; Federal Ministry of Education & Research (Alemania); Finlands Akademi (Finlandia); United States Army Medical Research and Development Command; Stichting tegen Kanker; Deutsche Krebshilfe; Fondazione IRCCS. Istituto Nazionale dei Tumori; National Health and Medical Research Council (Australia); Ministère du Développement économique, de Innovation et de Exportation (Canadá); The Research Council of Norway; Southern and Eastern Norway Regional Health Authority; Norwegian Cancer Society; Biobanking and BioMolecular resources Research Infrastructure (Países Bajos); Yorkshire Cancer Research; BRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology; Agency for Science, Technology and Research (Singapur); NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos)
    • بيانات النشر:
      Impact Journals
    • الموضوع:
      2016
    • Collection:
      REPISALUD (REPositorio Institucional en SALUD del Instituto de Salud Carlos III - ISCIII)
    • نبذة مختصرة :
      There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas. ; This work was supported by the Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program - grant # CRN-87521, the Ministry of Economy Innovation and ...
    • ISSN:
      1949-2553
    • Relation:
      https://doi.org/10.18632/oncotarget.12818; info:eu_repo/grantAgreement/ES/PI11/00923; info:eu_repo/grantAgreement/ES/PI12/00070; Oncotarget .2016;7(49):80140-80163.; http://hdl.handle.net/20.500.12105/10724; Oncotarget
    • الرقم المعرف:
      10.18632/oncotarget.12818
    • Rights:
      http://creativecommons.org/licenses/by-nc-sa/4.0/ ; Atribución-NoComercial-CompartirIgual 4.0 Internacional ; open access
    • الرقم المعرف:
      edsbas.35337FF7