BRCA1/2 testing: Uptake, phenocopies, and strategies to improve detection rates in initially negative families

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 478-483

  Fischer, C ^a   Engel, C ^b   Sutter, C ^a   Zachariae, S ^b   Schmutzler, R ^c   Meindl, A ^d   Heidemann, S ^e   Grimm, T ^f   Goecke, T O ^g   Debatin, I ^h   Horn, D ⁱ   Wieacker, P ^j   Gadzicki, D ^k   Becker, K ^l   Schafer D ^m   Stock, F ^b   Voigtlander T ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g HEINRICH HEINE UNIVERSITY   (Germany)

^h UNIVERSITY OF ULM   (Germany)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^j UNIVERSITY OF MÜNSTER   (Germany)

^k HANNOVER MEDICAL SCHOOL   (Germany)

^l DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^m GOETHE UNIVERSITY   (Germany)

more..

Author keywords

BRCA1 2 testing; Discrepant results; Phenocopies; Second mutational screening; True negatives; Uptake of genetic testing

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BRCA2 GENE; BREAST CANCER; CANCER DIAGNOSIS; CANCER RISK; CONFIDENCE INTERVAL; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OVARY CANCER; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; AGED; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERMANY; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PHENOTYPE; RISK FACTORS; UBIQUITIN-PROTEIN LIGASES;

EID: 84867640202     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01788.x     Document Type: Article

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