Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review

Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D (2007)
EUROPEAN JOURNAL OF HUMAN GENETICS 15(6): 619-627.

Journal Article | Published | English

No fulltext has been uploaded

Author
; ; ;
Abstract
As sequence analysis for BRCA1 and BRCA2 mutations is both time- and cost-intensive, current strategies often include scanning techniques to identify fragments containing genetic sequence alterations. However, a systematic assessment of the diagnostic accuracy has been lacking so far. Here, we report on a systematic review to assess the internal and external validity of current scanning techniques. Inclusion criteria were: controlled design, investigators blinded, and tests suitable as a scanning tool for the whole genes BRCA1 and BRCA2. Outcome parameters were sensitivity, specificity, and positive and negative predictive values compared to direct sequencing. Out of 3816 publications, 10 studies reporting on 12 methods met our inclusion criteria. The internal and external validity of most of these studies was limited. Sensitivities were reported to be 100% for enzymatic mutation detection (EMD), multiple-dye cleavase fragment length polymorphism (MD-CFLP), fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE), RNA-based sequencing, restriction endonuclease fingerprinting-single strand conformation polymorphism (REF-SSCP), stop codon (SC) assay, and denaturing high-performance liquid chromatography (DHPLC). Sensitivity was 50-96% for SSCP, 88-91% for two-dimensional gene scanning (TDGS), 76% for conformation-sensitive gel electrophoresis (CSGE), 75% for protein truncation test (PTT), and 58% for micronucleus test (MNT). Specificities close to 100% were reported, except for MNT. PTT and SC assay are only able to detect truncating mutations. Most studies were designed to introduce new experimental approaches or modifications of established methods and require further evaluation. F-CSGE, REF-SSCP, RNA-based sequencing, EMD, and MD-CFLP will need further evaluation before their use in a routine setting can be considered. SSCP, MNT, PTT, CSGE, and TDGS cannot be recommended because of their low sensitivity. DHPLC outperforms all other methods studied. However, none of the four studies evaluating DHPLC was performed on BRCA2.
Publishing Year
ISSN
eISSN
PUB-ID

Cite this

Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(6):619-627.
Gerhardus, A., Schleberger, H., Schlegelberger, B., & Gadzicki, D. (2007). Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS, 15(6), 619-627.
Gerhardus, A., Schleberger, H., Schlegelberger, B., and Gadzicki, D. (2007). Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS 15, 619-627.
Gerhardus, A., et al., 2007. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS, 15(6), p 619-627.
A. Gerhardus, et al., “Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review”, EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 15, 2007, pp. 619-627.
Gerhardus, A., Schleberger, H., Schlegelberger, B., Gadzicki, D.: Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS. 15, 619-627 (2007).
Gerhardus, Ansgar, Schleberger, Henriette, Schlegelberger, Brigitte, and Gadzicki, Dorothea. “Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review”. EUROPEAN JOURNAL OF HUMAN GENETICS 15.6 (2007): 619-627.
This data publication is cited in the following publications:
This publication cites the following data publications:

33 Citations in Europe PMC

Data provided by Europe PubMed Central.

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J, Golubeva VA, Pacheco-Torres AL, Diaz-Zabala HJ, Matta JL, Monteiro AN., Breast Cancer Res. Treat. 154(3), 2015
PMID: 26564481
Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.
Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, Perez M, Mitchell J, Roberson D, Jones K, Lee HJ, Eggebeen R, Sawitzke J, Bass S, Zhang X, Robles V, Hollis C, Barajas C, Rath E, Arentz C, Figueroa JA, Nguyen DD, Nahleh Z., Gigascience 4(), 2015
PMID: 26543556
Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
Hernan I, Mane B, Borras E, de Sousa Dias M, Llort G, Yague C, Gamundi MJ, Arcusa A, Carballo M., Clin Transl Oncol 17(7), 2015
PMID: 25586199
Serous adenocarcinoma of the ovary diagnosed during ultrasound evaluation for fertility preservation.
Hachem HE, Poulain M, Hoher M, Fanchin R, Frydman R, Grynberg M., Future Oncol 10(12), 2014
PMID: 25386809
Fertility preservation in breast cancer patients.
El Hachem H, Atallah D, Grynberg M., Future Oncol 10(10), 2014
PMID: 25303056
High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
Smith MJ, Gifford FL, Lalloo F, Newman WG, Evans DG., Breast Cancer Res. Treat. 134(2), 2012
PMID: 22752287

39 References

Data provided by Europe PubMed Central.

Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
Casadei S, Cortesi L, Pensotti V, Radice P, Pierotti M, Amadori D, Calistri D., Br. J. Cancer 85(6), 2001
PMID: 11556835
BRCA1 mutation screening using restriction endonuclease fingerprinting-single-strand conformation polymorphism in an automated capillary electrophoresis system.
Kringen P, Egedal S, Pedersen JC, Harbitz TB, Tveit KM, Berg K, Borresen-Dale AL, Andersen TI., Electrophoresis 23(24), 2002
PMID: 12481264
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC.
Gross E, Arnold N, Goette J, Schwarz-Boeger U, Kiechle M., Hum. Genet. 105(1-2), 1999
PMID: 10480358
Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.
Sakayori M, Kawahara M, Shiraishi K, Nomizu T, Shimada A, Kudo T, Abe R, Ohuchi N, Takenoshita S, Kanamaru R, Ishioka C., J. Hum. Genet. 48(3), 2003
PMID: 12624724

AUTHOR UNKNOWN, 0
Empirical evidence of design-related bias in studies of diagnostic tests.
Lijmer JG, Mol BW, Heisterkamp S, Bonsel GJ, Prins MH, van der Meulen JH, Bossuyt PM., JAMA 282(11), 1999
PMID: 10493205
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.
Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer., Breast Cancer Res. 7(6), 2005
PMID: 16280053
German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer.
Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, Pierl CB, Bruning T, Ko Y, Benner A, Wichmann HE, Brauch H, Hamann U; GENICA Network., Eur. J. Cancer 41(18), 2005
PMID: 16239104
The 471delAAAG mutation and C353T polymorphism in the RNASEL gene in sporadic and inherited cancer in Israel.
Dagan E, Laitman Y, Levanon N, Feuer A, Sidi AA, Baniel J, Korach Y, Ben Baruch G, Friedman E, Gershoni-Baruch R., Fam. Cancer 5(4), 2006
PMID: 16944274
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.
Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G., Cancer Res. 63(7), 2003
PMID: 12670888
Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families.
Gad S, Klinger M, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Bensimon A, Aurias A, Stoppa-Lyonnet D., J. Med. Genet. 39(11), 2002
PMID: 12414821
DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications.
Fredman D, Jobs M, Stromqvist L, Brookes AJ., Hum. Mutat. 24(1), 2004
PMID: 15221783

AUTHOR UNKNOWN, 0

Export

0 Marked Publications

Open Data PUB

Web of Science

View record in Web of Science®

Sources

PMID: 17342152
PubMed | Europe PMC

Search this title in

Google Scholar