Hereditary breast and ovarian cancer: Assessment of point mutations and copy number variations in Brazilian patients

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Silva, Felipe C ^a   Lisboa, Bianca C G ^a   Figueiredo, Marcia C P ^a   Torrezan, Giovana T ^a   Santos, Érika M M ^a   Krepischi, Ana C ^a,b   Rossi, Benedito M ^a   Achatz, Maria I ^a,b   Carraro, Dirce M ^a,b  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b National Institute of Science and Technology in Oncogenomics (INCITO)   (Brazil)

Author keywords

BRCA1; BRCA2; Breast cancer; CHEK 1100delC; HBOC; Mutation; TP53 R337H

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; CYCLIN DEPENDENT KINASE INHIBITOR 2A; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53; RAD50 PROTEIN; RAD51 PROTEIN; UVOMORULIN;

ADULT; AGED; ARTICLE; BRIP1 GENE; CANCER PATIENT; CANCER SCREENING; CANCER SUSCEPTIBILITY; CAPILLARY; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; NBN GENE; NUCLEOTIDE SEQUENCE; ONCOGENE; PALB2 GENE; PATHOGENICITY; POINT MUTATION; POLYMERASE CHAIN REACTION;

ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BRAZIL; CHECKPOINT KINASE 2; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DOSAGE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION RATE; POINT MUTATION; RNA SPLICE SITES; TRANSCRIPTION, GENETIC; TUMOR SUPPRESSOR PROTEIN P53; YOUNG ADULT;

EID: 84901618645     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-55     Document Type: Article

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