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Fine mapping of 14q24.1 breast cancer susceptibility locus

  1. Author:
    Lee, P.
    Fu, Y. P.
    Figueroa, J. D.
    Prokunina-Olsson, L.
    Gonzalez-Bosquet, J.
    Kraft, P.
    Wang, Z. M.
    Jacobs, K. B.
    Yeager, M.
    Horner, M. J.
    Hankinson, S. E.
    Hutchinson, A.
    Chatterjee, N.
    Garcia-Closas, M.
    Ziegler, R. G.
    Berg, C. D.
    Buys, S. S.
    McCarty, C. A.
    Feigelson, H. S.
    Thun, M. J.
    Diver, R.
    Prentice, R.
    Jackson, R.
    Kooperberg, C.
    Chlebowski, R.
    Lissowska, J.
    Peplonska, B.
    Brinton, L. A.
    Tucker, M.
    Fraumeni, J. F.
    Hoover, R. N.
    Thomas, G.
    Hunter, D. J.
    Chanock, S. J.

  2. Author Address

    [Lee, Phoebe; Fu, Yi-Ping; Figueroa, Jonine D.; Prokunina-Olsson, Ludmila; Wang, Zhaoming; Jacobs, Kevin B.; Yeager, Meredith; Horner, Marie-Josephe; Hutchinson, Amy; Chatterjee, Nilanjan; Garcia-Closas, Montserrat; Ziegler, Regina G.; Brinton, Louise A.; Tucker, Margaret; Fraumeni, Joseph F., Jr.; Hoover, Robert N.; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, NIH, Bethesda, MD 20892 USA. [Gonzalez-Bosquet, Jesus] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Dept Womens Oncol, Tampa, FL 33612 USA. [Kraft, Peter; Hunter, David J.] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Program Mol & Genet Epidemiol, Boston, MA 02115 USA. [Wang, Zhaoming; Jacobs, Kevin B.; Yeager, Meredith; Hutchinson, Amy] NCI Frederick, Core Genotyping Facil, Adv Technol Program, SAIC Frederick Inc, Frederick, MD 21701 USA. [Hankinson, Susan E.; Hunter, David J.] Brigham & Womens Hosp, Channing Lab, Dept Med, Boston, MA 02115 USA. [Hankinson, Susan E.; Hunter, David J.] Harvard Univ, Sch Med, Boston, MA 02115 USA. [Berg, Christine D.] NCI, Canc Prevent Div, NIH, DHHS, Bethesda, MD 20892 USA. [Buys, Saundra S.] Univ Utah, Dept Internal Med, Salt Lake City, UT 84132 USA. [McCarty, Catherine A.] Marshfield Clin Res Fdn, Ctr Human Genet, Marshfield, WI 54449 USA. [Feigelson, Heather Spencer] Kaiser Permanente Colorado, Inst Hlth Res, Denver, CO 80237 USA. [Thun, Michael J.; Diver, Ryan] Amer Canc Soc, Dept Epidemiol & Surveillance Res, Atlanta, GA 30329 USA. [Prentice, Ross; Kooperberg, Charles] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA. [Jackson, Rebecca] Ohio State Univ, Med Ctr, Div Diabet Endocrinol & Metab, Columbus, OH 43210 USA. [Chlebowski, Rowan] Harbor Univ Calif Los Angeles Med Ctr, Torrance, CA 90509 USA. [Lissowska, Jolanta] M Sklodowska Curie Mem, Ctr Canc, Dept Canc Epidemiol & Prevent, Warsaw, Poland. [Lissowska, Jolanta] Inst Oncol, Warsaw, Poland. [Peplonska, Beata] Nofer Inst Occupat Med, Lodz, Poland. [Thomas, Gilles] Fdn Synergie Lyon Canc, Ctr Leon Berard, INSERM, U590, F-69373 Lyon, France. [Hunter, David J.] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA.;Chanock, SJ (reprint author), NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, NIH, Bethesda, MD 20892 USA;chanocks@mail.nih.gov
    1. Year: 2012
    2. Date: Mar
  2. Journal: Human Genetics
    1. 131
    2. 3
    3. Pages: 479-490
  4. Type of Article: Article
  5. ISSN: 0340-6717
  1. Abstract:

    In the National Cancer Institute Cancer Genetic Markers of Susceptibility (CGEMS) genome-wide association study of breast cancer, a single nucleotide polymorphism (SNP) marker, rs999737, in the 14q24.1 interval, was associated with breast cancer risk. In order to fine map this region, we imputed a 3.93 MB region flanking rs999737 for Stages 1 and 2 of the CGEMS study (5,692 cases, 5,576 controls) using the combined reference panels of the HapMap 3 and the 1000 Genomes Project. Single-marker association testing and variable-sized sliding-window haplotype analysis were performed, and for both analyses the initial tagging SNP rs999737 retained the strongest association with breast cancer risk. Investigation of contiguous regions did not reveal evidence for an additional independent signal. Therefore, we conclude that rs999737 is an optimal tag SNP for common variants in the 14q24.1 region and thus narrow the candidate variants that should be investigated in follow-up laboratory evaluation.

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External Sources

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  2. DOI: 10.1007/s00439-011-1088-4
  3. View record in Web of Science®
  4. WOS: 000300252700016

Library Notes

  1. Fiscal Year: FY2011-2012
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