Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

Human Genetics

Volumn 103, Issue 6, 1998, Pages 707-708

  Díez, Orland ^a   Domènech, Montserrat ^a   Alonso, María Carmen ^a   Brunet, Joan ^a   Sanz, Judit ^a   Cortés, Joan ^a   Del Río, Elisabeth ^a   Baiget, Montserrat ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; BREAST CANCER; CANCER SCREENING; DELETION MUTANT; GENETIC SCREENING; GIPSY; HUMAN; JEW; ONCOGENE; POPULATION GENETIC PARAMETERS; PRIORITY JOURNAL; SPAIN;

ADULT; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENETIC MARKERS; GYPSIES; HUMANS; JEWS; MUTATION; OVARIAN NEOPLASMS; SEQUENCE DELETION; SPAIN;

EID: 0032421792     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050895     Document Type: Article

References (11)

1. Bar-Sade RB, Kruglikova A, Modan B, Gak E, Hirsh-Yechezkel G, Theodor L, et al (1998) The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet 5:801-805
2. Fraser A (1995) The Gypsies. Blackwell, Oxford, UK and Cambridge, USA
3. Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, et al (1995) Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 57:284-297
4. Goldgar DE, Fields P, Lewis CM, Tran TD, Cannon-Albright L, Ward JH (1994) A large kindred with 17q linked breast and ovarian cancer: genetic, phenotypic and genealogical analysis. J Natl Cancer Inst 86:200-209
5. Martínez-Frías ML, Bermejo E (1992) Prevalence of congenital anomaly syndromes in Spanish Gypsy population. J Med Genet 29:483-486
6. Miki Y, Svensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
7. Neuhausen SL, Swensen J, Miki Y, Liu Q, Tavtigian S, Shattuck-Eidens, et al (1994) A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. Hum Mol Genet 3:1919-1926
8. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Colegio A, et al (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 60 families: results of an international study. Am J Hum Genet 58:271-280
9. Osorio A, Robledo M, Albertos J, Díez O, Alonso C, Baiget M, Benítez J, et al (1995) Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. Cancer Lett 123:153-158
10. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch, et al (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 273:535-541
11. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, et al (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200