Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals - Correlation with clinicopathological data

Clinical Genetics

Volumn 67, Issue 4, 2005, Pages 322-329

  Kataki, A ^a,c   Gomatos, I P ^a   Pararas, N ^a   Armakolas, A ^a   Panousopoulos, D ^a   Karantzikos, G ^a   Voros, D ^a   Zografos, G ^a   Markopoulos, C ^b   Leandros, E ^a   Konstadoulakis, M M ^a  

^a HIPPOKRATION HOSPITAL   (Greece)

^b LAIKO GENERAL HOSPITAL   (Greece)

^c NONE   (Greece)

Author keywords

BRCA1; BRCA2; Breast cancer; Low risk; Moderate risk; Mutations

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER CENTER; CANCER PATIENT; CANCER RISK; CANCER SURVIVAL; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GREECE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; BREAST NEOPLASMS; BREAST NEOPLASMS, MALE; DNA, NEOPLASM; FEMALE; GENE DELETION; GENES, BRCA1; GENES, BRCA2; GERM-LINE MUTATION; GREECE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RISK ASSESSMENT; SURVIVAL ANALYSIS;

EID: 20144368369     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00400.x     Document Type: Article

References (30)

1. Ford D, Easton DF, Bishop DT et al. Risks of cancer in BRCA1-mutation carriers. Breast cancer linkage consortium. Lancet 1994: 343: 692-695.
2. Thorlacius S, Struewing JP, Hartge P et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998: 352: 1337-1339.
3. Ladopoulou A, Kroupis C, Konstantopoulou I et al. Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. Cancer Lett 2002: 185: 61-70.
4. Friedman LS, Ostermeyer EA, Szabo CI et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 1994: 8: 399-404.
5. Armakolas A, Ladopoulou A, Konstantopoulou I et al. BRCA2 gene mutations in Greek patients with familial breast cancer. Hum Mutat 2002: 19: 81-82.
6. Miki Y, Katagiri T, Kasumi F et al. Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 1996: 13: 245-247.
7. Shattuck-Eidens D, Oliphant A, McClure M et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 1997: 278: 1242-1250.
8. Konstantopoulou I, Kroupis C, Ladopoulou A et al. BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat 2000: 16: 272-273.
9. Rostagno P, Gioanni J, Garino E et al. A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer. J Hum Genet 2003: 48: 362-366.
10. Santarosa M, Viel A, Dolcetti R et al. Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer. Int J Cancer 1998: 78: 581-586.
11. Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002: 20: 1480-1490.
12. Cortez D, Wang Y, Qin J et al. Requirement of ATM dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 1999: 286: 1162-1166.
13. Zhang H, Somasundaram K, Peng Y et al. BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene 1998: 16: 1713-1721.
14. Chen J, Silver DP, Walpita D et al. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell 1998: 2: 317-328.
15. Chai YL, Cui J, Shao N et al. The second BRCT domain of BRCA1 proteins interacts with p53 and stimulates transcription from the p21WAF1/CIP1 promoter. Oncogene 1999: 18: 263-268.
16. Hayes F, Cayanan C, Barilla D et al. Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res 2000: 60: 2411-2418.
17. Mirkovic N, Marti-Renom MA, Weber BL et al. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 2004: 64: 3790-3797.
18. Abkevich V, Zharkikh A, Deffenbaugh AM et al. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet 2004: 41: 492-507.
19. Santarosa M, Dolcetti R, Magri MD et al. BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. Int J Cancer 1999: 83: 5-9.
20. Moller P, Borg A, Heimdal K et al. Norwegian Inherited Breast Cancer Group; Norwegian Inherited Ovarian Cancer Group. The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series. Eur J Cancer 2001: 37: 1027-1032.
21. Couch FJ, Farid LM, DeShano ML et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996: 13: 123-125.
22. Friedman LS, Gayther SA, Kurosaki T et al. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 1997: 60: 313-319.
23. Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 1994: 266: 66-71.
24. Langston AA, Stanford JL, Wicklund KG et al. Germ-line BRCA1 mutations in selected men with prostate cancer. Am J Hum Genet 1996: 58: 881-884.
25. Phillips KA, Andrulis IL, Goodwin PJ. Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: are they prognostically different? J Clin Oncol 1999: 17: 3653-3663.
26. Verhoog LC, Brekelmans CT, Seynaeve C et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 1998: 351: 316-321.
27. Goffin JR, Chappuis PO, Begin LR et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data. Cancer 2003: 97: 527-536.
28. Moller P, Borg A, Evans DG et al. Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 2002: 101: 555-559.
29. Van den Berg J, Johannsson O, Hakansson S et al. Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer. Br J Cancer 1996: 74: 1615-1619.
30. Loman N, Johannsson O, Bendahl P et al. Prognosis and clinical presentation of BRCA2-associated breast cancer. Eur J Cancer 2000: 36: 1365-1373.