Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

Breast Cancer Research and Treatment

Volumn 159, Issue 2, 2016, Pages 245-256

  Pinto, Pedro ^a   Paulo, Paula ^a   Santos, Catarina ^a   Rocha, Patrícia ^a   Pinto, Carla ^a   Veiga, Isabel ^a   Pinheiro, Manuela ^a   Peixoto, Ana ^a   Teixeira, Manuel R ^a,b  

^a PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

BRCA1; BRCA2; HBOC; Next generation sequencing; Targeted sequencing

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; DNA; PROTEIN P53; ATM PROTEIN, HUMAN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN; CHEK2 PROTEIN, HUMAN; PALB2 PROTEIN, HUMAN; PARTNER AND LOCALIZER OF BRCA2; TP53 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; ATM GENE; CANCER FAMILY; CANCER RISK; CANCER SUSCEPTIBILITY; CHEK2 GENE; COHORT ANALYSIS; DNA SEQUENCE; FEMALE; FOUNDER EFFECT; GENE FUNCTION; GENETIC ANALYZER; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HIGH RISK POPULATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PALB2 GENE; POINT MUTATION; PORTUGUESE (CITIZEN); PRIORITY JOURNAL; SANGER SEQUENCING; TUMOR GENE; TUMOR SUPPRESSOR GENE; VALIDATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; PORTUGAL; PROCEDURES; SENSITIVITY AND SPECIFICITY;

ADULT; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; FANCONI ANEMIA COMPLEMENTATION GROUP N PROTEIN; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MIDDLE AGED; POINT MUTATION; PORTUGAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84983380158     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-016-3948-z     Document Type: Article

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