Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: A multi-modal approach

European Journal of Human Genetics

Volumn 16, Issue 7, 2008, Pages 820-832

  Tischkowitz, Marc ^a,b   Hamel, Nancy ^a,c   Carvalho, Marcelo A ^d,e   Birrane, Gabriel ^f   Soni, Aditi ^f   van Beers, Erik H ^g   Joosse, Simon A ^g   Wong, Nora ^a,b   Novak, David ^a,c   Quenneville, Louise A ^h   Grist, Scott A ⁱ   Nederlof, Petra M ^g   Goldgar, David E ^j   Tavtigian, Sean V ^k   Monteiro, Alvaro N ^d   Ladias, John A A ^f   Foulkes, William D ^a,b,c  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

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

^e INSTITUTO FEDERAL DE EDUCAÇÃO   (Brazil)

^f Perioperative and Pain Medicine   (United States)

^g NETHERLANDS CANCER INSTITUTE   (Netherlands)

^h MCGILL UNIVERSITY   (Canada)

ⁱ FLINDERS UNIVERSITY   (Australia)

^j UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^k INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; BRCA1 INTERACTING PROTEIN 1; BRCA1 PROTEIN; CARBOXY TERMINAL BINDING PROTEIN INTERACTING PROTEIN; LYSINE; METHIONINE; PHOSPHOPEPTIDE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CARBOXY TERMINAL SEQUENCE; CARCINOMA IN SITU; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTALLOGRAPHY; DNA DAMAGE; GENE SEGREGATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRADUCTAL CARCINOMA; MAMMAL CELL; MISSENSE MUTATION; NONHUMAN; PAGET NIPPLE DISEASE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; YEAST CELL;

ADULT; AMINO ACID SUBSTITUTION; BRCA1 PROTEIN; BREAST NEOPLASMS; CARRIER PROTEINS; CHROMOSOME SEGREGATION; CONSERVED SEQUENCE; DNA-BINDING PROTEINS; EVOLUTION, MOLECULAR; FEMALE; HUMANS; LIKELIHOOD FUNCTIONS; LYSINE; MALE; METHIONINE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; NUCLEAR PROTEINS; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PHOSPHOPEPTIDES; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RNA HELICASES;

MAMMALIA;

EID: 45749087347     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.13     Document Type: Article

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