A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele

European Journal of Human Genetics

Volumn 10, Issue 6, 2002, Pages 395-397

  Solano, Angela R ^a,b   Dourisboure, Ricardo J ^a   Weitzel, Jeffrey ^c   Podesta, Ernesto J ^b  

^a INSTITUTO ALEXANDER FLEMING   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

BRCA2 617delT; BRCA2 testing; Hereditary breast cancer

Indexed keywords

BRCA2 PROTEIN; PRIMER DNA;

ADULT; ALLELE; AMPLICON; ARTICLE; BASE MISPAIRING; BIOASSAY; CONTROLLED STUDY; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MASKING; PRIORITY JOURNAL; PUBLICATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; GENE DELETION; HOMOZYGOTE; LABORATORY DIAGNOSIS; MALE; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION; PEDIGREE; TUMOR SUPPRESSOR GENE;

DNA PRIMERS; FALSE POSITIVE REACTIONS; FEMALE; GENES, BRCA2; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 0036021041     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200821     Document Type: Article

References (13)

1. Efficacy of bilateral prophilactic mastectomy in women with a family history of breast cancer
2. Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: Results in 71 thyroidectomized patients
3. Genetic testing in hereditary colorectal cancer: Indications and procedures
4. (ICG-HNPCC): New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC
5. Population-based molecular detection of hereditary nonpolyposis colorectal cancer
6. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer
7. Recurrent BRCA26174delT mutations in Ashkenazi Jewish women affected by breast cancer
8. Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing
9. A breast/ovarian cancer patient with germline mutations in both BRCA1, BRCA2
10. The carrier frequency of the BRCA26174delT mutation among Ashkenazy Jewish individuals is approximately 1%
11. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazy Jewish ovarian cancer patients, regardless of family history
12. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer
13. New BRCA2 mutation in Ashkenazy Jewish family with breast and ovarian cancer