Portuguese c.156-157insAlu BRCA2 founder mutation: Gastrointestinal and tongue neoplasias may be part of the phenotype

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 657-660

  Moreira, Miguel A M ^a   Bobrovnitchaia, Irina G ^a   Lima, Maria Angélica F D ^a,b   Santos, Anna Cláudia E ^a,b,c   Ramos, Jesus P ^a,d   Souza, Kelly R L ^a   Peixoto, Ana ^e   Teixeira, Manuel R ^e   Vargas, Fernando R ^a,b,c  

^a INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^b FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d INSTITUTO OSWALDO CRUZ   (Brazil)

^e PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

Author keywords

Alu insertion; BRCA2; C.156 157insAlu BRCA2; Founder mutation; Hereditary breast cancer

Indexed keywords

BRCA2 PROTEIN;

ADULT; ALLELE; ALLELE SIZE; ARTICLE; BRAZIL; BREAST CANCER; CANCER RISK; DIGESTIVE SYSTEM CANCER; FEMALE; FOUNDER MUTATION; GENE INSERTION; GENE MUTATION; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; TONGUE CANCER;

ADULT; AGED; BASE SEQUENCE; BRAZIL; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA; FEMALE; FOUNDER EFFECT; GASTROINTESTINAL NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; OVARIAN NEOPLASMS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; TONGUE NEOPLASMS;

EID: 84870416044     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9551-5     Document Type: Article

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