Interpreting epidemiological research: Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1

Journal of Medical Genetics

Volumn 38, Issue 12, 2001, Pages 824-833

  Eng, Charis ^a,b,k   Brody, L C ^c   Wagner, T M U ^d   Devilee, Peter ^k   Vijg, J ^f   Szabo, C ^g   Tavtigian, S V ^h,k   Nathanson, K L ⁱ   Ostrander, E ^j   Frank, T S ^h   Borg, Ake ^k   Brody, Lawrence C ^k   Couch, Fergus ^k   Easton, Douglas F ^k   Frank, Thomas S ^k   Goldgar, David F ^k   Nathanson, Katherine A ^k   Neuhausen, Susan ^k   Ostrander, Elaine ^k   Szabo, Csilla ^k   Wagner, Teresa M U ^k   Borresen Dale, Anne Lise ^k   Casey, Graham ^k   Friend, Stephen ^k   Futreal, Andrew ^k   Gayther, Simon A ^k   Murphy, Patricia ^k   Owens, Kelly ^k   Rabin, Mark ^k   Schubert, Elizabeth ^k   Shattuck, Donna ^k   Weber, Barbara L ^k   Wiseman, Roger ^k   more..

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF VIENNA   (Austria)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f University of Texas Health Science Center at San Antonio   (United States)

^g INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^h Myriad Genetic Laboratories   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j Fred Hutchinson Cancer Research Center   (United States)

^k NONE

more..

Author keywords

BRCA1; Cancer genetics; Mutation detection

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; CANCER GENETICS; COST BENEFIT ANALYSIS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INHERITANCE; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 18244377693     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.12.824     Document Type: Article

References (33)

1. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung disease
2. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis
3. From bench to bedside ... but when?
4. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
5. Genetic testing: The problems and the promise
6. A suggested nomenclature for designating mutations
7. BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic
8. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
9. Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples
10. Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests
11. A highly accurate, low cost test for BRCA1 mutations
12. A simple system for automated two-dimensional electrophoresis: Applications to genetic testing
13. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
14. High-resolution liquid chromatography of oligonucleotides on nonporous alkylated styrene-divinylbenzene copolymers
15. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformational polymorphism and heteroduplex analysis
16. Mutations in a population-based sample of young women with breast cancer
17. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases
18. BRCA1 mutations and breast cancer in the general population. Analyses in women before age 35 years and in women before age 45 years with first-degree family history
19. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics
20. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
21. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
22. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
23. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
24. Denaturing high-performance liquid chromatography: A review
25. Temperature-modulated array high-performance liquid chromatography
26. Inhibition of PCR amplification by a point mutation downstream of a primer
27. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
28. SSCP analysis: A blind sensitivity trial
29. A comparison of fluorescent SSCP and denaturing HPLC for high through-put mutation scanning
30. 22 Genes from chromosome 17q21: Cloning, sequencing, and characterization of mutations in breast cancer families and tumors
31. Rapid detection of BRCA1 mutations by the protein truncation test
32. A complete protein truncation test for BRCA1 and BRCA2
33. Screening for genomic rearrangements in families with breast and ovarian cancer identified BRCA1 mutations previously missed by conformation-sensitive electrophoresis or sequencing