Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
@article{Ford1998GeneticHA, title={Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.}, author={Deborah Ford and Douglas F. Easton and Michael R. Stratton and Steven A. Narod and David E. Goldgar and Peter Devilee and D. Timothy Bishop and B L Weber and Gilbert M. Lenoir and Jenny Chang-Claude and Hagay Sobol and Marion Dawn Teare and Jeffery P. Struewing and Adalgeir Arason and Siegfried Scherneck and Julian Peto and Timothy R. Rebbeck and Patricia N. Tonin and Susan L. Neuhausen and Rosa B. Barkardottir and Jorunn Erla Eyfjord and H T Lynch and Bruce A. J. Ponder and S. A. Gayther and M Zelada-Hedman}, journal={American journal of human genetics}, year={1998}, volume={62 3}, pages={ 676-89 } }
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers. Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other…
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Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic.
- Biology, MedicineJournal of clinical oncology : official journal of the American Society of Clinical Oncology
- 2001
It is suggested that at least half of breast/ovarian families evaluated in a high-risk cancer evaluation clinic may have germline mutations in BRCA1 or BRC2, and whether the remaining families have mutations in noncoding regions in B RCA1, mutations in other, as-yet-unidentified, low-penetrance susceptibility genes, or represent chance clustering remains to be determined.
Frequency of BRCA1 and BRCA2 Germline Mutations Detected by Protein Truncation Test and Cumulative Risks of Breast and Ovarian Cancer among Mutation Carriers in Japanese Breast Cancer Families
- Medicine, Biology
- 2002
Cumulative incidence of breast cancer by age 70 was estimated to be 78% and 80% for BRCa1 and BRCA2 mutation carriers, respectively, and that.
Investigation of the genetic basis of familial non- BRCA1/2 breast cancer
- Biology
- 2005
The frequent observation of genetic alterations involving chromosome 17 in breast tumours suggests the presence of novel genes, which may be involved in breast carcinogenesis, and a role for ESR2 in breast cancer.
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
- Medicine, BiologyJournal of Medical Genetics
- 2013
BRCA1 mutation carriers conferred lower overall breast and ovarian cancer risks than reported so far, while the estimates of BRCA2 mutations were among the lowest.
Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families
- BiologyBritish Journal of Cancer
- 2000
It is now clear that, in the context of families with a modest cancer profile, the percentage of mutations found is much lower than that suggested by the first studies, and this results are in agreement with the idea that a great proportion of moderate-risk cancer families could be due to low penetrance susceptibility genes distinct from BRCA1 or BRCa2.
Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age
- Biology, MedicineBreast Cancer Research and Treatment
- 2010
It is shown that the incidence of breast and ovarian cancer in BRCA2 mutation carriers and of ovarian cancer at age 70 is still high after 60 years, which may justify intensive breast screening as well as oophorectomy even after age 60.
Cancer prevalence in 129 breast-ovarian cancer families tested for BRCA1 and BRCA2 mutations.
- Medicine, BiologySouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
- 2010
Assessing the cancer risk profile in BRCA-mutation-positive and negative South African breast-ovarian cancer families, mainly of Caucasian origin, results can be applied in estimation of cancer risks and may contribute to more comprehensive counselling of mutation-positive Caucasian breast and/or ovarian cancer families.
Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer.
- BiologyEuropean journal of cancer
- 1999
Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
- Biology, MedicineInternational journal of cancer
- 2002
A logistic regression model for predicting the probability of harbouring a mutation in either BRCA1 or BRCa2 as a function of the cancer phenotype present in the family is developed and may be a useful tool for increasing the cost‐effectiveness of genetic testing in familial cancer clinics.
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
- Biology, MedicineJournal of medical genetics
- 2002
Evidence is provided that the risks of breast cancer and ovarian cancer are related to BRCA2 and there is evidence for an increased risk of several other cancers including prostate cancer, pancreatic cancer, gall bladder and bile duct cancer, stomach cancer, and malignant melanoma.
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