Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases

British Journal of Cancer

Volumn 83, Issue 10, 2000, Pages 1301-1308

  Ponder, Baj ^a   Pharoah, P D P ^a   Ponder, B A J ^a   Lipscombe, J M ^a   Basham, V ^a   Gregory, J ^a   Gayther, S ^a   Dunning, A ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

BRCA1; BRCA2; Breast; Cancer; Ovarian; Penetrance; Prevalence

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; OVARY CANCER; PENETRANCE; POPULATION RESEARCH; PRIORITY JOURNAL; UNITED KINGDOM;

ADULT; AGE OF ONSET; AGED; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GREAT BRITAIN; HUMANS; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE; PREVALENCE; RISK ASSESSMENT; TRANSCRIPTION FACTORS;

EID: 0033740880     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1054/bjoc.2000.1407     Document Type: Article

References (34)

1. Survival in early-onset BRCA1 breast cancer patients
2. Risk models for familial breast and ovarian cancer
3. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases
4. Cohort study analysis with a FORTRAN computer program
5. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
6. Breast and ovarian cancer incidence in BRCA1-mutation carriers
7. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q 12-13
8. Risks of cancer in BRCA1 mutation carriers
9. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
10. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
11. Conformation-sensitive gel electrophoresis for rapid detection of single-base difference in double stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
12. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene
13. The genetics of inherited breast cancer
14. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation
15. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2
16. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients
17. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer
18. BRCA1 mutations in a population-based sample of young women with breast cancer
19. BRCA1 mutations and breast cancer in the general population
20. A strong candidate for the 17-linked breast and ovarian cancer susceptibility gene BRCA1
21. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer
22. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women
23. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family
24. Germline BRCA1 185delAG mutations in Jewish women with breast cancer
25. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer
26. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
27. Complete genomic sequence and analysis of 117kb of human DNA containing the gene BRCA1
28. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
29. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
30. Study of a single BRCA2 mutation with high carrier frequency in a small population
31. Population-based study of risk of breast cancer in carriers of BRCA2 mutation
32. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1
33. Prognosis of BRCA1 hereditary breast cancer
34. Identification of the breast cancer susceptibility gene BRCA2