When knowledge of a heritable gene mutation comes out of the blue: Treatment-focused genetic testing in women newly diagnosed with breast cancer

B. Meiser, V.F. Quinn, M. Gleeson, J. Kirk, K.M. Tucker, B. Rahman, Christobel Saunders, K.J. Watts, M. Peate, Elizabeth Geelhoed, K. Barlow-Stewart, M. Field, M. Harris, Y.C. Antill, G. Mitchell

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

© 2016 Macmillan Publishers Limited, part of Springer Nature.Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.
Original languageEnglish
Pages (from-to)1517-1523
JournalEuropean Journal of Human Genetics
Volume24
Issue number11
DOIs
Publication statusPublished - 2016

Fingerprint Dive into the research topics of 'When knowledge of a heritable gene mutation comes out of the blue: Treatment-focused genetic testing in women newly diagnosed with breast cancer'. Together they form a unique fingerprint.

Cite this