title: Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
abstract: OBJECTIVE
  To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.
  
  
  RESULTS
  Next-generation sequencing panels of 6-112 cancer-associated genes are increasingly used in patient care. Studies report a 4-16% prevalence of mutations other than BRCA1/2 among patients who meet evidence-based practice guidelines for BRCA1/2 testing, with a high rate (15-88%) of uninterpretable variants of uncertain significance. Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.
  
  
  CONCLUSIONS
  Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully be administered in the context of cancer genetics expertise and/or clinical research protocols.
authors.affiliation: aDepartments of Medicine bHealth Research and Policy cPediatrics dGenetics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Allison W
authors.initials: AW
authors.lastname: Kurian
authors.forename: Kerry E
authors.initials: KE
authors.lastname: Kingham
authors.forename: James M
authors.initials: JM
authors.lastname: Ford
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005833:Genital Neoplasms, Female / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D018579:Patient Selection; D017410:Practice Guidelines as Topic; D018570:Risk Assessment; D012307:Risk Factors; D017422:Sequence Analysis, DNA / Q000379:methods*