Susan Manley

TL;DR: These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing.

TL;DR: A retrospective cohort study of individuals who had genetic testing between 2006 and 2016 at a single commercial laboratory found that most variants were observed in more than 1 individual, and 24.9% of variants of uncertain significance were reclassified, which included both downgrades and upgrades.

TL;DR: It is suggested that genetic testing with a pan-cancer panel in this cohort provides improved clinical utility over traditional single-gene or single-syndrome testing.

TL;DR: It is shown that discrepant classifications between a public database and single reference laboratory potentially account for 26.7% of variants in BRCA1 and BRCS2, and the time and expertise required of clinicians to research these discordant classification call into question the practicality of checking all test results against a database.

TL;DR: The frequency and distribution of likely somatic Pathogenic and Likely Pathogenic variants (PVs) detected in >220,000 individuals who underwent clinical testing with a 25-gene panel between September 2013 and March 2016 are evaluated.