BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families

Disease Markers

Volumn 32, Issue 6, 2012, Pages 343-353

  Cherbal, Farid ^a   Salhi, Nadjet ^a   Bakour, Rabah ^a   Adane, Saida ^b   Boualga, Kada ^c   Maillet, Philippe ^d  

^a UNIVERSITY OF SCIENCES AND TECHNOLOGY HOUARI BOUMEDIENE   (Algeria)

^b Central Hospital of Algiers   (Algeria)

^c Anti Cancer Center   (Algeria)

^d Swiss Check Up Laboratory   (Switzerland)

Author keywords

Algeria; BRCA1; BRCA2; breast ovarian cancer; HRM; polymorphisms; SNP; UVs

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ALGERIA; ALTERNATIVE RNA SPLICING; ARTICLE; BRCA2 GENE; BREAST CANCER; CONTROLLED STUDY; EXON; FAMILIAL CANCER; FEMALE; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GERM LINE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNCLASSIFIED VARIANT;

EID: 84862904099     PISSN: 02780240     EISSN: 18758630     Source Type: Journal    
DOI: 10.1155/2012/234136     Document Type: Article

References (26)

1. Y. Miki, J. Swensen, D. Shattuck-Eidens et al., A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1, Science 266 (1994), 66-71.
2. R. Wooster, G. Bignell, J. Lancaster et al., Identification of the breast cancer susceptibility gene BRCA2, Nature 378 (1995), 789-792.
3. V. Calò, B. Loredana, L. La Paglia et al., The clinical significance of unknown sequence variants in BRCA genes, Cancers 2 (2010), 1644-1660; doi:10.3390.
4. D. F. Easton, A.M. Deffenbaugh, D. Pruss et al., A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes, Am J Hum Genet 81 (2007), 873-883.
5. A. Osorio, R.L. Milne, E. Honrado et al., Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information, Hum Mutat 28 (2007), 477-485.
6. S.L. Dombernowsky, M. Weischer, J.J. Freiberg et al., Missense polymorphisms in BRCA1 and BRCA2 and risk of breast and ovarian cancer, Cancer Epidemiol Biomarkers Prev 18(8) (2009), 2339-2341.
7. F. Cherbal, D.A.E. Houamel, G. Benais-Pont et al., BRCA1 and BRCA2 sequence variants in Algerian breast/ovarian cancer families, in Abstracts of Proceedings of AACR special conference, The Future of Molecular Epidemiology: New Tools, Biomarkers, and Opportunities; 2010 June 6-9; 2010, Miami, Florida.
8. F. Cherbal, R. Bakour, S. Adane et al., BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families, Dis Markers 28(6) (2010), 377-384.
9. E. Gross, N. Arnold, J. Goette et al., A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC, Hum Mutat 105(1-2) (1999), 72-78.
10. P. Maillet, Mutations analysis of BRCA1 and BRCA2 genes by using High Resolution Melting (HRM) curve analysis, In Roche seminar, New perspectives in Real-time PCR and DNA sequencing. 2007; September 20th, Berne.
11. T. Judkins, B.C. Hendrickson, A.M. Deffenbaugh et al., Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations, Cancer Res 65 (2005), 10096-10103.
12. M. Zuradelli, B. Peissel, S. Manoukian et al., Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics, Breast Cancer Res Treat 124(1) (2010), 251-258.
13. D.E. Goldgar, D.F. Easton, A.M. Deffenbaugh et al., Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2, Am J Hum Genet 75(4) (2004), 535-544.
14. D.E. Goldgar, D.F. Easton, G.B. Byrnes et al., Genetic evidence and integration of various data sources for classifying uncertain variants into a single model, Hum Mutat 29(11) (2008), 1265-1272.
15. D.G. Cox, P. Kraft, S.E. Hankinson et al., Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer, Breast Cancer Res 7(2) (2005), R171-R175.
16. M. Konecny, M. Milly, K. Zavodna et al., Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia, Breast Cancer Res Treat 126(1) (2011), 119-130.
17. A.M. Dunning, M. Chiano, N.R. Smith et al., CommonBRCA1 variants and susceptibility to breast and ovarian cancer in the general population, Hum Mol Genet 6 (1997), 285-289.
18. N. Johnson, O. Fletcher, C. Palles et al., Counting potential functional variants in BRCA1, BRCA2 and ATMpredicts breast cancer susceptibility, Hum Mol Genet 16 (9) (2007), 1051-1057.
19. D.G. Cox, S.E. Hankinson and D.J. Hunter, No association between BRCA2 N372H and breast cancer risk, Cancer Epidemiol Biomarkers Prev 14 (2005), 1353-1354.
20. C.S. Healey, A.M. Dunning, M.D. Teare et al., A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability, Nat Genet 26 (2000), 362-364.
21. A.B. Spurdle, J.L. Hopper, X. Chen et al., The BRCA2 H372H genotype is associated with risk of breast cancer in Australian women under age 60 years, Cancer Epidemiol Biomarkers Prev 11 (2002), 413-416.
22. D.J. Hughes, S.M. Ginolhac, I. Coupier et al., Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers, Cancer Epidemiol Biomarkers Prev 14 (2005), 265-267.
23. M. Ishitobi, Y. Miyoshobi, A. Ando et al., Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis, Clin Cancer Res 9(4) (2003), 1376-1380.
24. L. Turkovic, L.C. Gurrin, M. Bahlo et al., Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age, BMC Cancer 10 (2010), 466.
25. J. Figueirado, J.D. Brooks, D.V. Conti et al., Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status, Breast Cancer Res Treat (2010), DOI10.1007/s10549-010-1285-1.
26. B. Pilato, M. Martinucci, K. Danza et al., Mutations and polymorphic BRCA variants transmission in breast cancer familial members, Breast Cancer Res Treat (2010) DOI 10.1007/ s10549-010-0861-8.