Presymptomatic breast cancer in Egypt: Role of BRCA1 and BRCA2 tumor suppressor genes mutations detection

Journal of Experimental and Clinical Cancer Research

Volumn 29, Issue 1, 2010, Pages

  Ibrahim, Safinaz S ^a   Hafez, Elsayed E ^b   Hashishe, Mervat M ^c  

^a CAIRO UNIVERSITY   (Egypt)

^b GENETIC ENGINEERING AND BIOTECHNOLOGY RESEARCH INSTITUTE   (Egypt)

^c ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA;

ADULT; ARTICLE; BREAST CANCER; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; EARLY DIAGNOSIS; EGYPT; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NORMAL HUMAN; ONCOGENE; ONCOGENE BRCA2; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE; BREAST TUMOR; FAMILY; GENETICS; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; PROGNOSIS;

ADULT; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA, NEOPLASM; EGYPT; FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROGNOSIS; YOUNG ADULT;

EID: 77955139604     PISSN: None     EISSN: 17569966     Source Type: Journal    
DOI: 10.1186/1756-9966-29-82     Document Type: Article

References (45)

1. Hereditary breast cancer: pathobiology, prognosis, and BRCA1and BRCA2 gene linkage. JN Marcus P Watson DL Page SA Narod GM Lenoir P Tonin, Cancer 1996 77 697 709 10.1002/(SICI)1097-0142(19960215)77:4<697::AID-CNCR16>3.0. CO;2-W 8616762
2. Breast cancer in Egypt: a review of disease presentation and detection strategies. S Omar H Khaled R Gaafar AR Zekry S Eissa O El-Khatib, Eastern Mediterranean Health Journal 2003 9 448 463 15751939
3. Cancer statistics. SL Parker T Tong S Bolden PA Wingo, Cancer J Clin 1997 47 5 27 10.3322/canjclin.47.1.5
4. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. D Shattuck-Eidens A Oliphant M McCuire C McBride J Gupte, JAMA 1997 278 1242 1250 10.1001/jama.278.15.1242 9333265
5. Inherited genetic predisposition in breast cancer. A population-based perspective. TR Rebbeck, Cancer 1999 86 Suppl 1673 1681 10.1002/(SICI)1097- 0142(19991015)86:8+<1673::AID-CNCR6>.0.CO;2-B
6. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Y Miki J Swensen D Shattuck-Eidens PA Futreal K Harshman S Tavigian, Science 1994 266 66 71 10.1126/science.7545954 7545954 (Pubitemid 24345325)
7. 3. R Wooster SL Neuhaussen J Mangion Y Quick D Ford N Collin, Science 1994 265 2088 2090 10.1126/science.8091231 8091231
8. Transcriptional activation by BRCA1. MS Chapman IM Verma, Nature 1996 382 678 679 10.1038/382678a0 8751436
9. Association of BRCA1 with RaD51 in mitotic and meiotic cells. R Scully J Chen A Plug Y Xiao D Weaver J Feunteun, Cell 1997 88 265 275 10.1016/S0092-8674(00)81847-4 9008167 (Pubitemid 28015875)
10. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. SV Tavtigian J Simard J Rommers F Couch D Shattuck-Eidens S Neuhausen, Nat Genet 1996 12 333 337 10.1038/ng0396-333 8589730
11. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. J Chen P Silver D Walpita B Cantor F Gazdar G Tomlinson, Mol Cell 1998 2 317 328 10.1016/S1097-2765(00) 80276-2 9774970
12. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. K Yoshida M Miki, Cancer Sci 2004 95 866 871 10.1111/j.1349-7006.2004.tb02195.x 15546503
13. Analysis of BRCAl and BRCA2 mutations in Brazilian breast cancer patients with positive family history. RM Dulfoth S Carvallo JK Heinrich JY Shinzato CC Dossantos LC Zeferino, Soo Paulo Med J 2005 123 192 197
14. High proportion of recurrent gremline mutations in the BRCAl gene in breast and ovarian cancer patients from the Prague area. P Pohlreich M Zikan J Stribrna Z Kleib M Janatova J Kotlas, Breast cancer research 2005 7 728 R736 10.1186/bcr1282 16168118
15. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. DF Easton T Bishop D Ford GP Crockford, Am J Hum Genet 1993 52 678 701 8460634
16. A high proportion of novel mutations in BRCAl with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. T Peelen M Van Vliet R Petrij-Bosch, Am J Hum Genet 1997 60 1041 1049 9150151
17. German family study on hereditary breast and/or ovarian cancer; germline mutation analysis of the BRCAl gene. U Hamann H Brauch AM Garvin G Bastert RJ Scott, Genes chromosomes cancer 1997 18 126 132 10.1002/(SICI)1098-2264(199702) 18:2<126::AID-GCC7>3.0.CO;2-4 9115962
18. Confirmation Of BRCA1 Analysis Of Germline Mutations Linked To Breast And Ovarian Cancer In Ten Families. S Friedman A Ostermeyer I Szabo P Dowd D Lynch, Naturegenet 1994 8 399 404
19. Analysis Of BRCA1 And BRC2 Mutations In Hungarian Families With Breast And Breast- Ovarian Cancer. J Ramus Z Kote-Jarai M Van Der Looij S Gayther B Csokay J Ponder, Amer J Hum Genet 1997b 60 1242 1246 (Pubitemid 27194111)
20. BRCA1 and BRCA2: from molecular genetics to clinical medicine. MA Blackwood BL Weber, J Clin Oncol 1998 16 1969 1977 9586917
21. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. GS Dite MA Jenkins MC Southey, J Natl Cancer Inst 2003 95 448 457 10.1093/jnci/95.6.448 12644538
22. Cancer incidence in relatives of a population-based set of cases of early- onset breast cancer with a known BRCA1 and BRCA2 mutation status. N Loman A Bladstrom O Johannsson A Borg H Osson, Breast cancer Res 2003 5 175 R186 10.1186/bcr632 14580253
23. The early onset breast cancer study group: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. F Lallor J Varley P Ellis A Moran L O'Dair P Pharoah, Lancet 2003 361 1101 1102 10.1016/S0140-6736(03)12856-5 12672316
24. BRCAl mutation analysis in 83 spanish- breast and/ovarian cancer families. O Diez J Cories M Domenech J Brunet E Delrio C Pericay, Int J Cancer 1999 83 465 469 10.1002/(SICI)1097-0215(19991112)83:4<465::AID-IJC5>3.0. CO;2-4 10508480
25. Spectrum of Mutations in BRCAl, CHEK2 and TP53 in families at high risk of breast cancer. T Walsh S Casadei KH Coats E Swisher SM Stray, JAMA 2006 295 1379 1388 10.1001/jama.295.12.1379 16551709
26. Ethnic differences in cancer risk resulting from genetic variation. SL Neuhausen, Cancer 1999 86 Suppl 11 2575 2582 10.1002/(SICI)1097-0142(19991201) 86:11+<2575::AID-CNCR15>3.0.CO;2-F 10630184
27. Three percent of Norwegian ovarian cancers are caused by BRCAl 1675 del A or 1135 ins A. A Dorum E Hovig C Trope M Inganas P Moller, Eur J Cancer 1999 35 779 781 10.1016/S0959-8049(99)00050-7 10505039
28. BRCAl and BRCA2 mutations among breast cancer patients from the Philippines. ML DeLeon A Liede E Kwan CA Mapua EM Cutiongeo A Tun, Int J Cancer 2002 98 596 603 10.1002/ijc.10194 11920621 (Pubitemid 34208562)
29. Contribution of BRCAl and BRCA2 mutations to breast and ovarian cancer in Pakistan. A Liede IA Malik Z Aziz P Rios E Kwan SA Narod, Am J Hum Genet 2002 71 595 606 10.1086/342506 12181777 (Pubitemid 34970130)
30. Hereditary breast and ovarian cancer in Asia: Genetic epidemiology of BRCA1 and BRCA2. A Lied SA Narod, Human Mutation 2002 20 413 424 10.1002/humu.10154 12442265
31. High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects. G Goelen E Teugels M Bonduelle B Neyns J DeGreive, J Med Genet 1999 36 304 308 10227398
32. Founder mutations in the BRCA1 gene in polish families with breast-ovarian cancer. B Corski T Byrski T Huzarski A Jakubowska, Am J Hum Genet 2000 66 1963 1968 10.1086/302922 10788334
33. The 185 del AG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim. RB Bar-Sade A Kruglikova B MoDan E Gak, Hum Mol Genet 1998 7 801 805 10.1093/hmg/7.5.801 9536083
34. Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. A Osorio M Robledo J Albertos O Diez, Cancer 1998 123 153 158
35. BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. D Stoppa P Laurent L Essioux S Pages, Am J Hum Genet 1997 60 1021 1030 9150149
36. Germline BRCA1 mutation analysis in Indian Breast/ovarian cancer families. BV Kumar S Lakhotia R Ankathil J Madhavan, Cancer biology and therapy 2002 1 18 21 12170759
37. Similar Contributions of BRCAl and BRCA2 germline mutations to early-onset breast cancer in Germany. U Hamann X Liu N Bungardt H Ulmar G Bastert HP Sinn, European J Hum Genet 2003 11 464 467 10.1038/sj.ejhg.5200988 (Pubitemid 36722266)
38. Clinical characteristics of individuals with germline mutations in BRCAl and BRCA2: Analysis of 10.000 individuals. TS Frank AM Deffenbaugh JE Reid M Hulick, J Clin Oncol 2002 20 1480 1490 10.1200/JCO.20.6.1480 11896095
39. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. SA Gayther J Mangion P Russell S Seal R Barfoot, Nat Genet 1997 15 103 105 10.1038/ng0197-103 8988179
40. Ovarian Cancer survival in Ashkenazi Jewish patients with BRCAl and BRCA2 mutations. SJ Ramus A Fishamn PD Pharoah S Yarkoni M Altaras BA Ponder, Eur J Surg Oncol 2001 27 278 281 10.1053/ejso.2000.1097 11373105
41. Haplotype and Phenotype analaysis of six recurrent BRCA1 mutations in 61 families. S Neuhausen S Mazoyer L Friedman M Stratton, Am J Hum Genel 1996 58 271 280
42. De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. RB Vander luijt PHA Avanzon RPM Jansen, J Med Genet 2001 38 102 105 10.1136/jmg.38.2.102 11158174
43. A breast/ovarian patient with germline mutations in both BRCAl and BRCA2. SJ Ramus LS Friedman SA Gayther BAJ Ponder, Nat Genet 1997 15 14 15 10.1038/ng0197-14 8988162
44. Genetic counseling for families with inherited susceptibility of breast and ovarian cancer. BB Biesecker M Boehnke K Calzone S Dorene, JAMA 1993 269 1970 1974 10.1001/jama.269.15.1970 8352830
45. A breast cancer patient of Scottish descent with germline mutation in BRCAl and BRCA2. A Liede P Rehal D Vesprini E Jack J Abrahamson SA Narod, Am J Hum Genet 1998 62 1543 1544 10.1086/301889 9585617