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Cancer Incidence in BRCA1 mutation carriers

Thompson, D; Easton, DF; Borg, Åke LU ; Johannsson, O; Loman, Niklas LU ; Olsson, Håkan LU and , (2002) In Journal of the National Cancer Institute 94(18). p.1358-1365
Abstract
Background: Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. Methods: The observed cancer incidence was compared with the expected cancer incidence based on population cancer rates. Relative risks (RRs) of each cancer type in BRCA1 carriers relative to risks for the general population were estimated by weighting individuals according to their estimated probability of being a mutation carrier. All statistical... (More)
Background: Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. Methods: The observed cancer incidence was compared with the expected cancer incidence based on population cancer rates. Relative risks (RRs) of each cancer type in BRCA1 carriers relative to risks for the general population were estimated by weighting individuals according to their estimated probability of being a mutation carrier. All statistical tests were two-sided. Results: BRCA1 mutation carriers were at a statistically significantly increased risk for several cancers, including pancreatic cancer (RR = 2.26, 95% confidence interval [CI] = 1.26 to 4.06, P = .004) and cancer of the uterine body and cervix (uterine body RR = 2.65, 95% CI = 1.69 to 4.16, P<.001; cervix RR = 3.72, 95% CI = 2.26 to 6.10, P<.001). There was some evidence of an elevated risk of prostate cancer in mutation carriers younger than 65 years old (RR = 1.82, 95% CI = 1.01 to 3.29, P = .05) but not in those 65 years old or older (RR = 0.84, 95% CI = 0.53 to 1.33, P = .45). Overall, increases in the risk for cancer at sites other than the breast or ovary were small and evident in women (RR = 2.30, 95% CI = 1.93 to 2.75, P = .001) but not in men (RR = 0.95, 95% CI = 0.81 to 1.12, P = .58). Conclusions: In carriers of BRCA1 mutations, the overall increased risk of cancer at sites other than breast and ovary is small and is observed in women but generally not in men. BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of the National Cancer Institute
volume
94
issue
18
pages
1358 - 1365
publisher
Oxford University Press
external identifiers
  • wos:000178016300008
  • scopus:0037130887
ISSN
1460-2105
DOI
10.1093/jnci/94.18.1358
language
English
LU publication?
yes
id
5f871627-6d55-47e5-8c0b-99baafcdb773 (old id 1123909)
date added to LUP
2008-06-03 14:33:08
date last changed
2017-12-10 04:38:25
@article{5f871627-6d55-47e5-8c0b-99baafcdb773,
  abstract     = {Background: Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. Methods: The observed cancer incidence was compared with the expected cancer incidence based on population cancer rates. Relative risks (RRs) of each cancer type in BRCA1 carriers relative to risks for the general population were estimated by weighting individuals according to their estimated probability of being a mutation carrier. All statistical tests were two-sided. Results: BRCA1 mutation carriers were at a statistically significantly increased risk for several cancers, including pancreatic cancer (RR = 2.26, 95% confidence interval [CI] = 1.26 to 4.06, P = .004) and cancer of the uterine body and cervix (uterine body RR = 2.65, 95% CI = 1.69 to 4.16, P&lt;.001; cervix RR = 3.72, 95% CI = 2.26 to 6.10, P&lt;.001). There was some evidence of an elevated risk of prostate cancer in mutation carriers younger than 65 years old (RR = 1.82, 95% CI = 1.01 to 3.29, P = .05) but not in those 65 years old or older (RR = 0.84, 95% CI = 0.53 to 1.33, P = .45). Overall, increases in the risk for cancer at sites other than the breast or ovary were small and evident in women (RR = 2.30, 95% CI = 1.93 to 2.75, P = .001) but not in men (RR = 0.95, 95% CI = 0.81 to 1.12, P = .58). Conclusions: In carriers of BRCA1 mutations, the overall increased risk of cancer at sites other than breast and ovary is small and is observed in women but generally not in men. BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women.},
  author       = {Thompson, D and Easton, DF and Borg, Åke and Johannsson, O and Loman, Niklas and Olsson, Håkan and , },
  issn         = {1460-2105},
  language     = {eng},
  number       = {18},
  pages        = {1358--1365},
  publisher    = {Oxford University Press},
  series       = {Journal of the National Cancer Institute},
  title        = {Cancer Incidence in BRCA1 mutation carriers},
  url          = {http://dx.doi.org/10.1093/jnci/94.18.1358},
  volume       = {94},
  year         = {2002},
}