Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients;Dépistage de grands réarrangements génomiques sur le BRCA1 chez des patientes Égyptiennes atteintes d'un cancer du sein héréditaire

Eastern Mediterranean Health Journal

Volumn 19, Issue 3, 2013, Pages 255-262

  Hagag, E ^a,b   Shwaireb, M ^a   Coffa, J ^c   El Wakil, A ^a,b  

^a ALEXANDRIA UNIVERSITY   (Egypt)

^b INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c MRC HOLLAND   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; CLINICAL FEATURE; DATA ANALYSIS; DNA EXTRACTION; EGYPT; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HIGH RISK PATIENT; HUMAN; LARGE GENOMIC REARRANGEMENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; PATHOLOGY; POLYMERASE CHAIN REACTION; STRUCTURAL GENOMICS; TUMOR SUPPRESSOR GENE;

EID: 84922687285     PISSN: 10203397     EISSN: None     Source Type: Journal    
DOI: 10.26719/2013.19.3.255     Document Type: Article

References (27)

1. Jemal A et al. Cancer statistics, 2008. CA: a Cancer Journal for Clinicians, 2008, 58:71-96.
2. Boulos S et al. Breast screening in the emerging world: high prevalence of breast cancer in Cairo. Breast, 2005, 14:340-346.
3. Ibrahim SS, Hafez EE, Hashishe MM. Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection. Journal of Experimental and Clinical Cancer Research, 2010, 29:82.
4. Omar S et al. Breast cancer in Egypt: a review of disease presentation and detection strategies. Eastern Mediterranean Health Journal, 2003, 9:448-463.
5. Gad S et al. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene, 2002, 21:6841-6847.
6. Preisler-Adams S et al. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genetics and Cytogenetics, 2006, 168:44-49.
7. Cavallone L et al. Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer. Familial Cancer, 2010, 9:507-517.
8. Sluiter MD, van Rensburg EJ. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Research and Treatment, 2011, 125:325-349.
9. del Valle J et al. Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Research and Treatment, 2010, 122:733-743.
10. Schouten JP et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research, 2002, 30:e57.
11. Jankowski S et al. Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study. Journal of Biomolecular Techniques, 2008, 19:238-243.
12. Coffa J et al. MLPAnalyzer: data analysis tool for reliable automated normalization of MLPA fragment data. Cellular Oncology, 2008, 30:323-335.
13. Hogervorst FB et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Research, 2003, 63:1449-1453.
14. Agata S et al. Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes, Chromosomes & Cancer, 2006, 45:791-797.
15. Peixoto A et al. BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Familial Cancer, 2006, 5:379-387.
16. Vasickova P et al. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Medical Genetics, 2007, 8:32.
17. Pylkäs K et al. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer, 2008, 8:146.
18. Ford D et al.; The Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human Genetics, 1998, 62:676-689
19. de la Hoya M et al. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clinical Chemistry, 2006, 52:1480-1485.
20. Engert S et al. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single earlyonset cases. Human Mutation, 2008, 29:948-958.
21. Ticha I et al. Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. Breast Cancer Research and Treatment, 2010, 124:337-347.
22. Hansen T et al. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Research and Treatment, 2009, 115:315-323.
23. Pohlreich P et al. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Research, 2005, 7:R728-R736.
24. Lalloo F et al.; Early Onset Breast Cancer Study Group. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet, 2003, 361:1101-1102.
25. Díez O et al. BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. International Journal of Cancer, 1999, 83:465-469.
26. Aktas D et al. Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients. Gynecologic Oncology, 2010, 119:131-135.
27. Woodward AM et al. kConFab Investigators. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. Journal of Medical Genetics, 2005, 42:e31.