A guide for functional analysis of BRCA1 variants of uncertain significance

Human Mutation

Volumn 33, Issue 11, 2012, Pages 1526-1537

  Millot, Gaël A ^a   Carvalho, Marcelo A ^b,c   Caputo, Sandrine M ^d   Vreeswijk, Maaike P G ^e   Brown, Melissa A ^f   Webb, Michelle ^g   Rouleau, Etienne ^d   Neuhausen, Susan L ^h   Hansen, Thomas V O ⁱ   Galli, Alvaro ^j   Brandão, Rita D ^k   Blok, Marinus J ^k   Velkova, Aneliya ^l   Couch, Fergus J ^m   Monteiro, Alvaro N A ^l  

^a INSTITUT CURIE   (France)

^b INSTITUTO FEDERAL DE EDUCAÇÃO   (Brazil)

^c INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^d INSERM   (France)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

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

ⁱ Rigshospitalet   (Denmark)

^j CNR   (Italy)

^k MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^l H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^m MAYO CLINIC   (United States)

more..

Author keywords

BRCA1; Breast; Cancer; Functional analysis; Genetic testing; Ovarian; VUS

Indexed keywords

BRCA1 PROTEIN;

BREAST CANCER; CANCER RISK; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; HUMAN; NONHUMAN; OVARY CANCER; PATIENT COUNSELING; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN FUNCTION; REVIEW; RISK ASSESSMENT; TUMOR SUPPRESSOR GENE;

BACTERIAL PROTEINS; BRCA1 PROTEIN; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENETIC VARIATION; HUMANS; MALE; OLIGOPEPTIDES; OVARIAN NEOPLASMS; PROTEIN INTERACTION DOMAINS AND MOTIFS; RADIATION TOLERANCE; RISK FACTORS; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION; UBIQUITIN-PROTEIN LIGASES;

EID: 84867485246     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22150     Document Type: Review

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