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Variation of breast cancer risk among BRCA1/2 carriers

Begg, Colin B; Haile, Robert W; Borg, Åke LU ; Malone, Kathleen E; Concannon, Patrick; Thomas, Duncan C; Langholz, Bryan; Bernstein, Leslie; Olsen, Jorgen H and Lynch, Charles F, et al. (2008) In JAMA: the journal of the American Medical Association 299(2). p.194-201
Abstract
CONTEXT: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers has been examined in many studies, but relatively little attention has been paid to the degree to which the risk may vary among carriers. OBJECTIVES: To determine the extent to which risks for BRCA1 and BRCA2 carriers vary with respect to observable and unobservable characteristics. DESIGN, SETTING, AND PARTICIPANTS: Probands were identified from a population-based, case-control study (Women's Environmental Cancer and Radiation Epidemiology [WECARE]) of asynchronous contralateral breast cancer conducted during the period of January 2000 to July 2004. Participants previously diagnosed with contralateral breast cancer or unilateral breast cancer were genotyped for... (More)
CONTEXT: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers has been examined in many studies, but relatively little attention has been paid to the degree to which the risk may vary among carriers. OBJECTIVES: To determine the extent to which risks for BRCA1 and BRCA2 carriers vary with respect to observable and unobservable characteristics. DESIGN, SETTING, AND PARTICIPANTS: Probands were identified from a population-based, case-control study (Women's Environmental Cancer and Radiation Epidemiology [WECARE]) of asynchronous contralateral breast cancer conducted during the period of January 2000 to July 2004. Participants previously diagnosed with contralateral breast cancer or unilateral breast cancer were genotyped for mutations in BRCA1 and BRCA2. All participants had their initial breast cancer diagnosed during the period of January 1985 to December 2000, before the age of 55 years. MAIN OUTCOME MEASURE: Incidence of breast cancer in first-degree female relatives of the probands was examined and compared on the basis of proband characteristics and on the basis of variation between families. RESULTS: Among the 1394 participants with unilateral breast cancer, 73 (5.2%) were identified as carriers of deleterious mutations (42 with BRCA1 and 31 with BRCA2). Among the 704 participants with contralateral breast cancer, 108 (15.3%) were identified as carriers of deleterious mutations (67 with BRCA1 and 41 with BRCA2). Among relatives of carriers, risk was significantly associated with younger age at diagnosis in the proband (P = .04), and there was a trend toward higher risk for relatives of contralateral breast cancer vs unilateral breast cancer participants (odds ratio, 1.4 [95% confidence interval, 0.8-2.4]; P = .28). In addition, there were significant differences in risk between carrier families after adjusting for these observed characteristics. CONCLUSION: There exists broad variation in breast cancer risk among carriers of BRCA1 and BRCA2 mutations. (Less)
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Contribution to journal
publication status
published
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in
JAMA: the journal of the American Medical Association
volume
299
issue
2
pages
194 - 201
publisher
American Medical Association
external identifiers
  • PMID:18182601
  • WOS:000252182600019
  • Scopus:38049171118
ISSN
1538-3598
DOI
10.1001/jama.2007.55-a
language
English
LU publication?
yes
id
fda5b2b5-3bca-4963-be9e-21cf918cb2e5 (old id 1144466)
alternative location
http://jama.ama-assn.org/cgi/content/abstract/299/2/194
date added to LUP
2008-04-24 13:19:49
date last changed
2016-12-04 04:40:04
@misc{fda5b2b5-3bca-4963-be9e-21cf918cb2e5,
  abstract     = {CONTEXT: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers has been examined in many studies, but relatively little attention has been paid to the degree to which the risk may vary among carriers. OBJECTIVES: To determine the extent to which risks for BRCA1 and BRCA2 carriers vary with respect to observable and unobservable characteristics. DESIGN, SETTING, AND PARTICIPANTS: Probands were identified from a population-based, case-control study (Women's Environmental Cancer and Radiation Epidemiology [WECARE]) of asynchronous contralateral breast cancer conducted during the period of January 2000 to July 2004. Participants previously diagnosed with contralateral breast cancer or unilateral breast cancer were genotyped for mutations in BRCA1 and BRCA2. All participants had their initial breast cancer diagnosed during the period of January 1985 to December 2000, before the age of 55 years. MAIN OUTCOME MEASURE: Incidence of breast cancer in first-degree female relatives of the probands was examined and compared on the basis of proband characteristics and on the basis of variation between families. RESULTS: Among the 1394 participants with unilateral breast cancer, 73 (5.2%) were identified as carriers of deleterious mutations (42 with BRCA1 and 31 with BRCA2). Among the 704 participants with contralateral breast cancer, 108 (15.3%) were identified as carriers of deleterious mutations (67 with BRCA1 and 41 with BRCA2). Among relatives of carriers, risk was significantly associated with younger age at diagnosis in the proband (P = .04), and there was a trend toward higher risk for relatives of contralateral breast cancer vs unilateral breast cancer participants (odds ratio, 1.4 [95% confidence interval, 0.8-2.4]; P = .28). In addition, there were significant differences in risk between carrier families after adjusting for these observed characteristics. CONCLUSION: There exists broad variation in breast cancer risk among carriers of BRCA1 and BRCA2 mutations.},
  author       = {Begg, Colin B and Haile, Robert W and Borg, Åke and Malone, Kathleen E and Concannon, Patrick and Thomas, Duncan C and Langholz, Bryan and Bernstein, Leslie and Olsen, Jorgen H and Lynch, Charles F and Anton-Culver, Hoda and Capanu, Marinela and Liang, Xiaolin and Hummer, Amanda J and Sima, Cami},
  issn         = {1538-3598},
  language     = {eng},
  number       = {2},
  pages        = {194--201},
  publisher    = {ARRAY(0xad44510)},
  series       = {JAMA: the journal of the American Medical Association},
  title        = {Variation of breast cancer risk among BRCA1/2 carriers},
  url          = {http://dx.doi.org/10.1001/jama.2007.55-a},
  volume       = {299},
  year         = {2008},
}