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

Henningson, Maria LU ; Johansson, Ulla LU ; Borg, Åke LU ; Olsson, Håkan LU and Jernström, Helena LU (2007) In Molecular Human Reproduction 13(4). p.231-236
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CYP17 polymorphism, menstrual cycle length, BRCA1/2, breast cancer, oral contraceptives
in
Molecular Human Reproduction
volume
13
issue
4
pages
231 - 236
publisher
Oxford University Press
external identifiers
  • wos:000245511500004
  • scopus:34147128186
ISSN
1460-2407
DOI
10.1093/molehr/gam004
language
English
LU publication?
yes
id
cc106719-f708-4a9f-8d5b-ffd294c22ac4 (old id 667450)
date added to LUP
2007-12-11 13:40:56
date last changed
2017-11-12 03:19:12
@article{cc106719-f708-4a9f-8d5b-ffd294c22ac4,
  abstract     = {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 &lt;= 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 (&lt; 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.},
  author       = {Henningson, Maria and Johansson, Ulla and Borg, Åke and Olsson, Håkan and Jernström, Helena},
  issn         = {1460-2407},
  keyword      = {CYP17 polymorphism,menstrual cycle length,BRCA1/2,breast cancer,oral contraceptives},
  language     = {eng},
  number       = {4},
  pages        = {231--236},
  publisher    = {Oxford University Press},
  series       = {Molecular Human Reproduction},
  title        = {CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women},
  url          = {http://dx.doi.org/10.1093/molehr/gam004},
  volume       = {13},
  year         = {2007},
}