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The Challenges of Genetic Testing in Patients Diagnosed with Breast Cancer; The Kent Oncology Centre Experience
Poster Title: The Challenges of Genetic Testing in Patients Diagnosed with Breast Cancer; The Kent Oncology Centre Experience
Submitted on 02 Nov 2015
Author(s): Christos Mikropoulos1,2, Aaron Davies 1, Charlotte Abson1, Gill Sadler1, Gemma McCormick1, Questa Karlsson2, Julia Hall2
Affiliations: 1 Kent Oncology Center, Maidstone and Tunbridge Wells Hospital, Maidstone, ME16 9QQ 2 Institute of Cancer Research, 123 Old Brompton Rd, London SW7 3RP
Poster Views: 1,686
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Poster Information
Abstract: Background:

• NICE guidelines advise to offer genetic testing for BRCA mutations if the risk of being a BRCA carrier is over 10%

• In patients with a suggestive personal and/or family history, a specific predisposing gene is identified in <30% of cases.

• A BRCA1 pathogenic mutation found in 45/308 participants in the TNT trial

• Women with triple negative BrCa <50years had a 20% BRCA1 mutation prevalence


• To document the number of new pathogenic mutation carriers identified

• To estimate the expected number of carriers based on Family History and presentation

• To highlight the gap in case identification and offer solutions to
optimise pathways
Summary: In this study we explore retrospective data to determine strategies for optimizing the genetic referral pathways for breast cancer. References: Robertson, L.Hanson, H. Seal, S. Warren-Perry, M. Hughes, D. Howell, I. Turnbull, C.Houlston, R. Shanley, S. Butler, S. Evans, D. G. Ross, G. Eccles, D. Tutt, A. Rahman, N.T. N. T. Trial TMG Bcsc, BRCA1 testing should be offered to individuals with triplenegative breast cancer diagnosed below 50 years, BJC 2012; 106. 6, 1234-8Report abuse »
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