Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain

Journal of Clinical Oncology

Volumn 26, Issue 25, 2008, Pages 4212-4214

  Giannini, Giuseppe ^a   Capalbo, Carlo ^b   Ottini, Laura ^a   Buffone, Amelia ^a   De Marchis, Laura ^a   Margaria, Elena ^c   Vitolo, Domenico ^a   Ricevuto, Enrico ^d   Rinaldi, Christian ^e   Zani, Massimo ^a   Ferraro, Sergio ^a   Marchetti, Paolo ^f   Cortesi, Enrico ^a   Frati, Luigi ^b   Screpanti, Isabella ^a   Gulino, Alberto ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c MOLINETTE HOSPITAL   (Italy)

^d UNIVERSITY OF L'AQUILA   (Italy)

^e IRCCS NEUROMED   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; EPIDERMAL GROWTH FACTOR RECEPTOR 2;

BREAST CANCER; BRIP1 GENE; GENE; GENE IDENTIFICATION; GENE INTERACTION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; MISSENSE MUTATION; ONCOGENE; OVARY CANCER; PALB2 GENE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BREAST NEOPLASMS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENE DELETION; GENES, BRCA1; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 51649087164     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2008.18.2089     Document Type: Letter

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