Cancer Causes & Control

, Volume 16, Issue 6, pp 667–674

Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers


  • Joanne Kotsopoulos
    • Centre for Research in Women’s HealthUniversity of Toronto
    • Department of Nutritional SciencesUniversity of Toronto
  • Jan Lubinski
    • Hereditary Cancer CenterPomeranian Medical University
  • Henry T. Lynch
    • Department of Preventive Medicine and Public HealthCreighton University School of Medicine
  • Susan L. Neuhausen
    • Epidemiology Division, Department of MedicineUniversity of California
  • Parviz Ghadirian
    • Epidemiology Research Unit, Research CentreCentre Hospitalier de l’ Universitaire Montréal, CHUM Hôtel Dieu, Département de Nutrition, Faculte du Medicine
  • Claudine Isaacs
    • Lombardi Cancer CenterGeorgetown University Medical Center
  • Barbara Weber
    • British Columbia Cancer Agency
  • Charmaine Kim-Sing
    • Abramson Family Cancer Research InstituteUniversity of Pennsylvania
  • William D. Foulkes
    • Departments of Medicine, Human Genetics, and OncologyMcGill University
  • Ruth Gershoni-Baruch
    • Institute of GeneticsRambam Medical Center
  • Peter Ainsworth
    • London Regional Cancer Center
  • Eitan Friedman
    • The Suzanne Levy Gertner Oncogenetics UnitThe Chaim Sheba Medical Center
  • Mary Daly
    • Division of Population ScienceFox Chase Cancer Center
  • Judy E. Garber
    • Dana Farber Cancer Institute
  • Beth Karlan
    • Gynecology OncologyCedars Sinai Medical Center
  • Olufunmilayo I. Olopade
    • Center for Clinical Cancer GeneticsUniversity of Chicago
  • Nadine Tung
    • Beth Isreal Medical Center
  • Howard M. Saal
    • Hereditary Cancer Program, Division of Human GeneticsChildren’s Hospital Medical Center
  • Andrea Eisen
    • Toronto-Sunnybrook Regional Cancer Center
  • Michael Osborne
    • Strang Cancer Prevention Center
  • Hakan Olsson
    • Jubileum Institute, Department of OncologyLund University Hospital
  • Dawna Gilchrist
    • Internal Medicine/Medical GeneticsWCM University of Alberta
  • Ping Sun
    • Centre for Research in Women’s HealthUniversity of Toronto
  • Steven A. Narod
    • Centre for Research in Women’s HealthUniversity of Toronto

DOI: 10.1007/s10552-005-1724-1

Cite this article as:
Kotsopoulos, J., Lubinski, J., Lynch, H.T. et al. Cancer Causes Control (2005) 16: 667. doi:10.1007/s10552-005-1724-1


Age at menarche is a strong and consistent predictor of breast cancer risk in the general population, but has not been well studied in women with a family history of breast cancer. We conducted this study to examine whether the presence of a deleterious BRCA1 or BRCA2 mutation influences age at menarche and to investigate whether or not there is an association between age at menarche and the risk of breast cancer in BRCA1 or BRCA2 mutation carriers. The presence of a deleterious BRCA1 or BRCA2 mutation did not appear to influence a woman’s age at menarche. A matched case–control study was conducted on 1311 pairs of women who have been identified to be carriers of a deleterious mutation in either the BRCA1 (n = 945 pairs) or the BRCA2 gene (n = 366 pairs). Information about age at menarche was derived from a questionnaire routinely administered to carriers of a mutation in either gene. Among women who carried a deleterious BRCA1 mutation, age at menarche was inversely associated with the risk of breast cancer (p trend = 0.0002). This association was not observed among BRCA2 mutation carriers (p trend = 0.49). Compared with BRCA1 carriers whose age at menarche was ≤11 years, women with a menarcheal age between 14 and 15 years old had a 54% reduction in risk (OR = 0.46; 95% CI 0.30–0.69). This study implicates early age at menarche as a determinant of breast cancer among women with a BRCA1 mutation.


BRCA1BRCA2age at menarchebreast cancercase–control studyreproductive modifiers.

Copyright information

© Springer 2005