The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women

Author

  • Maria Henningson
  • Ulla Johansson
  • Åke Borg
  • Håkan Olsson
  • Helena Jernström

Summary, in English

The CYP17 gene is involved in steroid hormone metabolism and has been proposed as a low penetrance gene for breast cancer. We aimed to investigate the associations between the CYP17 genotype and breast cancer risk factors, such as age at menarche, menstrual cycle length, oral contraceptive (OC) use, and BRCA mutation status among 258 healthy young women, aged <= 40, from 158 breast cancer high-risk families. Questionnaires including questions on reproductive factors and OC use were completed and blood samples were obtained from all women. CYP17 (rs743572) was genotyped with sequencing in 254 women. The main findings were that short menstrual cycles (< 27 days) were significantly more common with increasing number of variant A2 alleles (8%, 17% and 32%; P-trend = 0.002, adjusted for family clustering). Each A2 allele was associated with a 7 months earlier OC start (17.8, 17.0, and 16.6 years; P-trend = 0.014, adjusted for age at menarche, ever-smoking and family clustering). Homozygosity for the A2 allele was more common among known non-carriers from BRCA1/2 families compared with other high-risk women OR 2.92 (95% CI 1.49-5.73; P = 0.002, adjusted for family clustering). We found no association between CYP17 genotype and age at menarche. In conclusion, this study suggests that short menstrual cycles, age at first OC use and BRCA mutation status may need to be considered in studies exploring the relationships between CYP17 and risk factors for early onset breast cancer.

Department/s

  • Breastcancer-genetics

Publishing year

2007

Language

English

Pages

231-236

Publication/Series

Molecular Human Reproduction

Volume

13

Issue

4

Document type

Journal article

Publisher

Oxford University Press

Topic

  • Obstetrics, Gynecology and Reproductive Medicine

Keywords

  • CYP17 polymorphism
  • menstrual cycle length
  • BRCA1/2
  • breast cancer
  • oral contraceptives

Status

Published

ISBN/ISSN/Other

  • ISSN: 1460-2407