Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

Annals of Surgical Oncology
Kristin A TheobaldBenjamin D Solomon

Abstract

Knowledge of a germline pathogenic/likely pathogenic variant (PV) may inform breast cancer management. BRCA1/2 PV often impact surgical decisions, but data for multi-gene panel testing are lacking. Expedited genetic testing reduces turn-around times based on request for treatment-related decision making. This report aims to describe the clinical utility of expedited multi-gene panel testing for patients with newly diagnosed breast cancer. Clinical and demographic information were reviewed for patients with newly diagnosed female breast cancer undergoing expedited panel testing between 2013 and 2017. The National Comprehensive Cancer Network guidelines (NCCN, version 1.2018) were evaluated in terms of published management recommendations for the genes in which PVs were identified. The overall PV yield was 9.5% (678/7127) for women undergoing expedited panel testing, with 700 PVs identified among 678 women. PVs were identified in genes other than BRCA1/2 in 55.9% (391/700) of cases. The NCCN guidelines recommend management for the genes in which 96.6% (676/700) of PVs are identified. The NCCN guidelines also recommend risk-reducing mastectomy for 46.0% (322/700) of PVs identified. An additional 45.6% (319/700) of PVs were identif...Continue Reading

References

Apr 23, 2002·Nature Genetics·Hanne Meijers-HeijboerUNKNOWN CHEK2-Breast Cancer Consortium
Dec 3, 2003·International Journal of Cancer. Journal International Du Cancer·Susan NeuhausenDoug Easton
Dec 10, 2003·Archives of Surgery·Jeffrey N WeitzelCarey A Cullinane
Apr 7, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Marc D SchwartzClaudine Isaacs
Jul 12, 2005·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·D G R EvansA Howell
May 25, 2010·Journal of the National Comprehensive Cancer Network : JNCCN·Mary B DalyUNKNOWN National Comprehensive Cancer Network
Jan 9, 2013·Familial Cancer·Urszula TeodorczykJan Lubiński
Jun 10, 2014·Gynecologic Oncology·Elizabeth LokichJennifer Gass
Aug 8, 2014·The New England Journal of Medicine·Antonis C AntoniouMarc Tischkowitz
Sep 7, 2014·Proceedings of the National Academy of Sciences of the United States of America·Efrat Gabai-KaparaEphrat Levy-Lahad
Sep 10, 2014·JAMA : the Journal of the American Medical Association·Mary-Claire KingAmnon Lahad
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 17, 2015·Journal of Medical Genetics·Rachel S van der PostRebecca C Fitzgerald
Sep 2, 2015·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Mark E RobsonNoralane M Lindor
Jan 21, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Ella R ThompsonIan G Campbell
Apr 22, 2016·Hereditary Cancer in Clinical Practice·Melissa C SoutheyTú Nguyen-Dumont
Jun 9, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Marjanka K SchmidtDouglas F Easton
Jul 20, 2016·The New England Journal of Medicine·Colin C PritchardPeter S Nelson
Oct 19, 2016·Cancer Genetics·Tracey P LeedomElizabeth C Chao
Apr 14, 2017·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Allison W KurianSteven J Katz
Apr 19, 2017·JAMA Oncology·Fergus J CouchJill S Dolinsky
Jan 19, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maegan E RobertsWendy K Chung
Jan 24, 2018·Journal of the American College of Surgeons·Holly J PedersonStephen R Grobmyer

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