Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

PLoS Genetics

Volumn 12, Issue 1, 2016, Pages

  Mantere, Tuomo ^a   Winqvist, Robert ^a   Kauppila, Saila ^b   Grip, Mervi ^b   Jukkola Vuorinen, Arja ^b   Tervasmäki, Anna ^a   Rapakko, Katrin ^c   Pylkäs, Katri ^a  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c Laboratory of Cancer Genetics and Tumor Biology   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

OLAPARIB; MCPH1 PROTEIN, HUMAN; NERVE PROTEIN;

ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CELL SURVIVAL; CELL VIABILITY; CHROMOSOME REARRANGEMENT; COHORT ANALYSIS; CONTROLLED STUDY; CYTOGENETICS; DNA DAMAGE; DNA REPAIR; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOMIC INSTABILITY; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MCF 7 CELL LINE; MCPH1 GENE; NEXT GENERATION SEQUENCING; ONCOGENE; PATHOGENESIS; PERIPHERAL LYMPHOCYTE; SEQUENCE ANALYSIS; ADULT; BREAST TUMOR; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HAPLOTYPE; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; ONSET AGE; PEDIGREE;

ADULT; AGE OF ONSET; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84958730040     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005816     Document Type: Article

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