title: When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.
abstract: 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.
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
authors.forename: B
authors.initials: B
authors.lastname: Meiser
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
authors.forename: V F
authors.initials: VF
authors.lastname: Quinn
authors.affiliation: Hunter Family Cancer Service, Waratah, NSW, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Gleeson
authors.affiliation: Familial Cancer Service, Westmead Hospital, Westmead, NSW, Australia.|Centre for Cancer Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Kirk
authors.affiliation: Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: K M
authors.initials: KM
authors.lastname: Tucker
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
authors.forename: B
authors.initials: B
authors.lastname: Rahman
authors.affiliation: School of Surgery, University of Western Australia, Crawley, WA, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Saunders
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
authors.forename: K J
authors.initials: KJ
authors.lastname: Watts
authors.affiliation: Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.|Department of Obstetrics and Oncology, Royal Women's Hospital, University of Melbourne, Melbourne, VIC, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Peate
authors.affiliation: School of Population Health, University of Western Australia, Crawley, WA, Australia.
authors.forename: E
authors.initials: E
authors.lastname: Geelhoed
authors.affiliation: Sydney Medical School-Northern, University of Sydney, Sydney, NSW, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Barlow-Stewart
authors.affiliation: Royal North Shore Hospital, St Leonards, NSW, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Field
authors.affiliation: Monash Health, Melbourne, VIC, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Harris
authors.affiliation: Familial Cancer Centre, Cabrini Health, Melbourne, VIC, Australia.
authors.forename: Y C
authors.initials: YC
authors.lastname: Antill
authors.affiliation: Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
authors.forename: G
authors.initials: G
authors.lastname: Mitchell
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D005260:Female; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011795:Surveys and Questionnaires; D014342:Truth Disclosure
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human