Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Genetics in Medicine

Volumn 17, Issue 8, 2015, Pages 630-638

  Maxwell, Kara N ^a   Wubbenhorst, Bradley ^b   D'Andrea, Kurt ^b   Garman, Bradley ^b   Long, Jessica M ^a   Powers, Jacquelyn ^a   Rathbun, Katherine ^b   Stopfer, Jill E ^a   Zhu, Jiajun ^b   Bradbury, Angela R ^a   Simon, Michael S ^c   Demichele, Angela ^a   Domchek, Susan M ^a   Nathanson, Katherine L ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c WAYNE STATE UNIVERSITY   (United States)

Author keywords

cancer susceptibility; early onset breast cancer; genetic testing; massively parallel sequencing; multiplex panel testing

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA; DNA GLYCOSYLASE MUTY; PROTEIN MSH2; PROTEIN P53;

ADULT; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DELETION MUTANT; EARLY ONSET BREAST CANCER; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYZER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERM LINE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRACTICE GUIDELINE; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM; BREAST TUMOR; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PENETRANCE; RISK FACTOR; TUMOR SUPPRESSOR GENE;

ADULT; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PENETRANCE; PREVALENCE; RISK FACTORS;

EID: 84938695932     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.176     Document Type: Article

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