BRCA2 founder mutation in Slovenian breast cancer families

European Journal of Human Genetics

Volumn 10, Issue 12, 2002, Pages 879-882

  Krajc, Mateja ^a,b   De Grève, Jacques ^a   Goelen, Guido ^a   Teugels, Erik ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b INSTITUTE OF ONCOLOGY   (Slovenia)

Author keywords

BRCA2; Founder mutation; Hereditary breast ovarian cancer; Slovenia

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER FAMILY; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FOUNDER EFFECT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GERM LINE; HAPLOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; LINKAGE ANALYSIS; OVARY CANCER; POPULATION GENETICS; PRIORITY JOURNAL; SLOVENIA;

AGED; BASE SEQUENCE; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HAPLOTYPES; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN NEOPLASMS; RNA SPLICE SITES; SLOVENIA;

EID: 0036927010     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200886     Document Type: Article

References (13)

1. Goelen G, Teugels E, Bonduelle M, Neyns B, De Grève J: High frequency of BRCA 1/2 mutations in 42 Belgian families with a small number of symptomatic subjects. J Med Genet 1999; 36: 304-308.
2. Ford D, Easton DF, Stratton M et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998; 62: 676-689.
3. Struewing JP, Abeliovich D, Peretz T et al: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995; 11: 198-200.
4. Thorlacius S, Olafsdottir G, Tryggvadottir L et al: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996; 13: 117-119.
5. Petrij-Bosch A, Peelen T, Van VIiet M et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17: 341-345.
6. Pompe-Kirn V, Zakotnik B, Benulic T, Volk N, Skrk J: Prezivetje bolnikov z rakom v Sloveniji. Ljubljana: Onkoloski institut, Register raka za Slovenijo, 1997 (Central Slovene Cancer Register, 1997).
7. Hogervorst FB, Cornelis RS, Bout M et al: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 1995; 10: 208-212.
8. Ganguly T, Dhulipala R, Godmilow L, Ganguly A: High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. Hum Genet 1998; 102: 549-556.
9. Neuhausen S, Godwin A, Gershoni R et al: Haplotype and phenotype analysis of nine recurrent BRCA-2 mutations in 111 families: results of an international study. Am J Hum Genet 1998; 62: 1381-1388.
10. Gayther SA, Russel P, Harrington P, Antoniou AC, Easton DF, Ponder BA: The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet 1999; 65: 1021-1029.
11. Orban TI, Csokay B, Olah E: Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples. Biotechniques 2000; 29: 94-98.
12. Gayther SA, Mangion J, Russel P et al: Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997; 15: 103-105.
13. Santarosa M, Dolcetti R, Magri M et al: BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. Int J Cancer 1999; 83: 5-9.