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

Joanne Kotsopoulos, Jan Lubinski, Henry T. Lynch, Susan L. Neuhausen, Parviz Ghadirian, Claudine Isaacs, Barbara Weber, Charmaine Kim-Sing, William D. Foulkes, Ruth Gershoni-Baruch, Peter Ainsworth, Eitan Friedman, Mary Daly, Judy E. Garber, Beth Karlan, Olufunmilayo I. Olopade, Nadine Tung, Howard M. Saal, Andrea Eisen, Michael OsborneHakan Olsson, Dawna Gilchrist, Ping Sun, Steven A. Narod

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)667-674
Number of pages8
JournalCancer Causes and Control
Issue number6
StatePublished - Aug 2005
Externally publishedYes


  • Age at menarche
  • BRCA1
  • BRCA2
  • Breast cancer
  • Case-control study
  • Reproductive modifiers


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