Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Genetics in Medicine

Volumn 18, Issue 8, 2016, Pages 823-832

  Susswein, Lisa R ^a   Marshall, Megan L ^a   Nusbaum, Rachel ^a   Vogel Postula, Kristen J ^a   Weissman, Scott M ^a   Yackowski, Lauren ^a   Vaccari, Erica M ^a   Bissonnette, Jeffrey ^a   Booker, Jessica K ^a   Cremona, M Laura ^b   Gibellini, Federica ^a   Murphy, Patricia D ^a   Pineda Alvarez, Daniel E ^a   Pollevick, Guido D ^b   Xu, Zhixiong ^a   Richard, Gabi ^a   Bale, Sherri ^a   Klein, Rachel T ^b   Hruska, Kathleen S ^a   Chung, Wendy K ^c  

^a GENEDX   (United States)

^b Bioreference Laboratory   (United States)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

BRCA1 2; hereditary breast and ovarian cancer; hereditary cancer panels; Lynch syndrome; next generation sequencing

Indexed keywords

ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER PATIENT; CANCER SCREENING; COLON CANCER; COLORECTAL CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; ENDOMETRIUM CANCER; FAMILIAL CANCER; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE BREAST CANCER; MICROARRAY ANALYSIS; MIDDLE AGED; MOLECULAR DIAGNOSIS; NEOPLASM; NEXT GENERATION SEQUENCING; OVARY CANCER; PANCREAS CANCER; PATHOGENICITY; PRACTICE GUIDELINE; PREVALENCE; STOMACH CANCER; TUMOR GENE; TUMOR SUPPRESSOR GENE; AGED; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

ADULT; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; NEOPLASMS; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 84981169037     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.166     Document Type: Article

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