Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

@article{Antoniou2003AverageRO,
  title={Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.},
  author={Antonis C. Antoniou and Paul D. P. Pharoah and Steven A. Narod and Harvey A. Risch and Jorunn Erla Eyfjord and John L. Hopper and Niklas Loman and Hakan L. Olsson and Oskar Thor Johannsson and {\AA}ke Borg and Barbara Pasini and Paolo Radice and Siranoush Manoukian and Diana M. Eccles and Na Tang and Edith Ol{\'a}h and Hoda Anton-Culver and Ellen Warner and Jan Lubiński and Jacek Gronwald and Bohdan G{\'o}rski and Hrafn Tulinius and Steinunn Thorlacius and Hannaleena Eerola and Heli Nevanlinna and Kirsi Syrj{\"a}koski and Olli Kallioniemi and D.J. Thompson and Chris Evans and Julian Peto and Fiona Lalloo and D. Gareth R. Evans and Douglas F. Easton},
  journal={American journal of human genetics},
  year={2003},
  volume={72 5},
  pages={
          1117-30
        }
}
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based on multiple-case families may be enriched for mutations of higher risk and/or other familial risk factors, whereas risk estimates from studies based on cases unselected for family history have been imprecise. We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family… 
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The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain
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The results are consistent with those from a recent meta-analysis of practically all previous penetrance studies, suggesting that women with BRCA1 and BRCa2 mutations attending genetic counseling services in Spain have similar risks of breast and ovarian cancer to those published for other Caucasian populations.
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The penetrance, the earlier onset of the disease and the effect of mutations on the risk of developing breast and ovarian cancer were evaluated in 344 females belonging to 34 families from the Basque Country in Spain.
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The risk of breast cancer in female relatives of women with a BRCA1 mutation depends on whether the proband was diagnosed with breast or ovarian cancer.
Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients
TLDR
The rate of germline BRCA1 or 2 mutations in ovarian cancer patients without a family history or breast or ovarian cancer is low, however, in women with additional family members affected, the prevalence is considerably higher than previously reported.
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A combined estimator of penetrance from combined estimates of the prevalence of BRCA mutations in women with and without breast cancer and from the probability of breast cancer by using Bayes' Theorem is proposed.
BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.
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The results suggest that HBC families, the largest pool in this series, represent an heterogeneous group where the apparently faulty performances of the prediction models might be at least partially explained by the presence of additional kinds of BRCA1/2 alteration (such as genomic rearrangements) or by mutations on different breast cancer related genes.
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