Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment

  title={Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment},
  author={Allison W. Kurian and Kerry Kingham and James M. Ford},
  journal={Current Opinion in Obstetrics and Gynecology},
Purpose of review To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment. Recent findings 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… 

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Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

  • A. KurianEmily Hare J. Ford
  • Medicine, Biology
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2014
Results suggest that multiple-gene sequencing may benefit appropriately selected patients, and additional studies are required to quantify the penetrance of identified mutations and determine clinical utility.

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Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel

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Abstract PD4-8: Prevalence of gene mutations among hereditary breast and ovarian cancer patients using a 25 gene panel

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