Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia
Autor: | Noel J Aherne, Justin Westhuyzen, Lucie G. Hallenstein, W. B. Ross, Carmen J Hansen, Julan V Amalaseelan, Allan D. Spigelman, Carol Sorensen, Shelly Wen, Shehnarz Salindera, Lorraine Hodgson, Thomas P. Shakespeare |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
medicine.medical_specialty
Referral lcsh:QH426-470 Genetic counseling Re-contacting BRCA lcsh:RC254-282 Panel testing Breast cancer medicine Genetics (clinical) Triple-negative breast cancer Genetic testing Genetic counselling medicine.diagnostic_test business.industry Research Cancer medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Regional Human genetics Hereditary cancer lcsh:Genetics Oncology Family medicine Cohort business Triple negative |
Zdroj: | Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-8 (2021) Hereditary Cancer in Clinical Practice |
ISSN: | 1897-4287 |
Popis: | Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment. |
Databáze: | OpenAIRE |
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