Familial breast cancer: Double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

Familial Cancer

Volumn 7, Issue 2, 2008, Pages 119-124

  Smith, Margaret ^a   Fawcett, Susan ^b   Sigalas, Emanouil ^a   Bell, Richard ^c   Devery, Sophie ^b   Andrieska, Nikolina ^a   Winship, Ingrid ^d  

^a MELBOURNE HEALTH   (Australia)

^b Genetic Health Services Victoria   (Australia)

^c BARWON HEALTH   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

BRCA; Breast cancer; Double heterozygosity; Familial cancer; Genotype; Phenotype

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CASE REPORT; DIAGNOSTIC TEST; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOHISTOCHEMISTRY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; FOUNDER EFFECT; GENES, BRCA1; GENES, BRCA2; GENOTYPE; HETEROZYGOTE; HUMANS; JEWS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION SURVEILLANCE; RISK ASSESSMENT; RISK FACTORS;

EID: 45749126523     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-007-9154-8     Document Type: Article

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