Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families

Neoplasma

Volumn 53, Issue 2, 2006, Pages 97-102

  Ciernikova S ^a   Tomka, M ^a   Kovac M ^a   Stevurkova V ^a   Zajac, V ^a  

^a INSTITUTE OF CHEMISTRY   (Slovakia)

Author keywords

Ashkenazi Jewish founder mutations; BRCA1; BRCA2; Breast and ovarian cancer; Slovak HBOC families

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA;

ADULT; ARTICLE; BREAST CANCER; CONTROLLED STUDY; DNA SEQUENCE; ENDOMETRIUM CARCINOMA; EXON; FAMILIAL CANCER; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OVARY CANCER; PHENOTYPE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 33645466805     PISSN: 00282685     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. CASEY G. The BRCA1 and BRCA2 breast cancer genes. Curr Opin Oncol 1997; 9: 88-93.
2. MIKI Y, SWENSEN J, SHATTUCK-EIDENS D, FUTREAL PA, HARSHMAN K et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66-71.
3. WOOSTER R, BIGNELL G, LANCASTER J, SWIFT S, SEAL S et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-792.
4. ANTONIOU A, PHAROAH PDP, NAROD S, RISCH HA, EYFJORD JE et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72: 1117-1130.
5. DE JONG MM, NOLTE IM, TE MEERMAN GJ, VAN DER GRAAF WTA, OOSTERWIJK JC et al. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 2002; 39: 225-242.
6. MEIJERS-HEIJBOER H, VAN DEN OUWELAND A, KLIJN J, WASIELEWSKI M, DE SNOO A et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-59.
7. STRUEWING JP, HARTGE P, WACHOLDER S, BAKER SM, BERLIN M et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New Engl J Med 1997; 336: 1401-1408.
8. ABELIOVICH D, KADURI L, LERER I, WEINBERG N, AMIR G et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997; 60: 505-514.
9. BAHAR AY, TAYLOR PJ, ANDREWS L, PROOS A, BURNETT L et al. The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer 2001; 92: 440-445.
10. ELLISEN LW, HABER DA. Hereditary breast cancer. Annu Rev Med 1998; 49: 425-436.
11. BRODY LC, BIESECKER BB. Breast cancer susceptibility genes BRCA1 and BRCA2. Medicine 1998; 77: 208-226.
12. SZABO CI, KING M-C. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997; 60: 1013-1020.
13. NEUHAUSEN SL, GODWIN AK, GERSHONI-BARUCH R, SCHUBERT E, GARBER J et al. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet 1998; 62: 1381-1388.
14. TOMKA M, SEDLAKOVA O, REINEROVA M, VESELOVSKA Z, STEVURKOVA V et al. Mutation screening of the BRCA1 gene in Slovak patients. Neoplasma 2001; 48: 541-455.
15. ČIERNIKOVÁ S, TOMKA M, SEDLÁKOVÁ O, REINEROVÁ M, ŠTEVURKOVÁ V et al. The novel exon 11 mutation of BRCA1 gene in a high-risk family. Neoplasma 2003; 50: 403-407.
16. WAGNER T, STOPPA-LYONNET D, FLEISCHMANN E, MUHR D, PAGÉS S et al. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 1999; 62: 369-376.
17. BEAUDET AL, TSUI LC. A suggested nomenclature for designating mutations. Hum Mutat 1993; 2: 245-248.
18. ANTONIOU A, PHAROAH PDP, NAROD S, RISCH HA, EYFJORD JE et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005; 42: 602-603.
19. GAYTHER SA, WARREN W, MAZOYER S, RUSSELL PA, HARRINGTON PA et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995; 11: 428-433.
20. HÄKANSSON S, JOHANNSSON O, JOHANSSON U, SELLBERG G, LOMAN N et al. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997; 60: 1068-1078.
21. HORNREICH G, BELLER U, LAVIE O, RENBAUM P, COHEN Y, LEVY-LAHAD E. Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature. Gynecol Oncol 1999; 75: 300-304.
22. LEVINE DA, LIN O, BARAKAT R, ROBSON ME, McDERMOTT D et al. Risk of endometrial carcinoma associated with BRCA mutation. Gynecol Oncol 2001; 80: 395-398.
23. GOSHEN R, CHU W, ELIT L, PAL T, HAKIMI J et al. Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? Gynecol Oncol 2000; 79: 477.
24. POHLREICH P, ZIKAN M, STRIBRNA J, KLEIBEL Z, JANATOVA M et al. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res 2005; 7: R728-R736.
25. GÓRSKI B, BYRSKI T, HUZARSKI T, JAKUBOWSKA A, MENKISZAK J et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000; 66: 1963-1968.
26. VAN DER LOOIJ M, SZABO C, BESZNYAK I, LISZKA G, CSOKAY B et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer 2000; 86: 737-740.
27. GAYTHER SA, HARRINGTON P, RUSSELL P, KHARKEVICH G, GARKAVTSEVA RF, PONDER BA. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am J Hum Genet 1997; 60: 1239-1242.
28. WAGNER TM, MÖSLINGER RA, MUHR D, LANGBAUER G, HIRTENLEHNER K. et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer 1998; 77: 354-360.
29. BACKE J, HOFFERBERT S, SKAWRAN B, DÖRK T, STUHRMANN M et al. Frequency of BRCA1 Mutation 5382insC in German Breast Cancer Patients. Gynecol Oncol 1999; 72: 402-406.