Clinical Management of Breast Patients with Proven BRCA1, BRCA2 or TP53 mutation in NHS Tayside
Association of Breast Surgery ePoster Library. Maniam P. 05/13/19; 257167; P125
Mr. Pavithran Maniam
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P125
Topic: Other
Background: Approximately 5-10% of all breast cancers are hereditary, of which 20-25% are associated with a mutation in either BRCA1, BRCA2 or TP53 gene. Despite the availability of national guidelines, the clinical management of mutation carriers in Tayside was unclear. This study aimed to establish the clinical management of mutation carriers and contribute to service improvement. MethodsCaldicott's approval was granted and the clinical details were collected retrospectively from 2007 to 2017. The current clinical practice was compared to the national SIGN and NICE guidelines. Results299 female mutation carriers (119 BRCA1, 179 BRCA2 and 1 TP53) were identified in Tayside. The mean age was 48.6 years (range 18-87). Mutation carriers were referred following a diagnosis of cancer (45.1%) or through cascade genetic testing (45.6%). During genetic counselling, surveillance screening was discussed with the majority of mutation carriers (n=161, 78.9%). 132 (64.7%) individuals opted for routine imaging surveillance (mammogram and/or MRI). Risk-reducing surgery was discussed with 172 (84.3%) mutation carriers and 120 (58.5%) individuals opted for risk-reducing breast and/or gynaecology surgeries. However, chemoprevention was discussed with just 8 (3.9%) mutation carriers and only 2 individuals commenced chemoprevention. Conclusion: These findings prompted our services to review the clinical management pathway of newly diagnosed mutation carriers. In collaboration with our clinical genetics colleagues, the method of discussion and delivery of all prevention methods is being worked on. Developing written booklets as aides would provide guidance for councillors, but also sufficient information for patients to make informed decisions regarding their cancer prevention.
Topic: Other
Background: Approximately 5-10% of all breast cancers are hereditary, of which 20-25% are associated with a mutation in either BRCA1, BRCA2 or TP53 gene. Despite the availability of national guidelines, the clinical management of mutation carriers in Tayside was unclear. This study aimed to establish the clinical management of mutation carriers and contribute to service improvement. MethodsCaldicott's approval was granted and the clinical details were collected retrospectively from 2007 to 2017. The current clinical practice was compared to the national SIGN and NICE guidelines. Results299 female mutation carriers (119 BRCA1, 179 BRCA2 and 1 TP53) were identified in Tayside. The mean age was 48.6 years (range 18-87). Mutation carriers were referred following a diagnosis of cancer (45.1%) or through cascade genetic testing (45.6%). During genetic counselling, surveillance screening was discussed with the majority of mutation carriers (n=161, 78.9%). 132 (64.7%) individuals opted for routine imaging surveillance (mammogram and/or MRI). Risk-reducing surgery was discussed with 172 (84.3%) mutation carriers and 120 (58.5%) individuals opted for risk-reducing breast and/or gynaecology surgeries. However, chemoprevention was discussed with just 8 (3.9%) mutation carriers and only 2 individuals commenced chemoprevention. Conclusion: These findings prompted our services to review the clinical management pathway of newly diagnosed mutation carriers. In collaboration with our clinical genetics colleagues, the method of discussion and delivery of all prevention methods is being worked on. Developing written booklets as aides would provide guidance for councillors, but also sufficient information for patients to make informed decisions regarding their cancer prevention.
P125
Topic: Other
Background: Approximately 5-10% of all breast cancers are hereditary, of which 20-25% are associated with a mutation in either BRCA1, BRCA2 or TP53 gene. Despite the availability of national guidelines, the clinical management of mutation carriers in Tayside was unclear. This study aimed to establish the clinical management of mutation carriers and contribute to service improvement. MethodsCaldicott's approval was granted and the clinical details were collected retrospectively from 2007 to 2017. The current clinical practice was compared to the national SIGN and NICE guidelines. Results299 female mutation carriers (119 BRCA1, 179 BRCA2 and 1 TP53) were identified in Tayside. The mean age was 48.6 years (range 18-87). Mutation carriers were referred following a diagnosis of cancer (45.1%) or through cascade genetic testing (45.6%). During genetic counselling, surveillance screening was discussed with the majority of mutation carriers (n=161, 78.9%). 132 (64.7%) individuals opted for routine imaging surveillance (mammogram and/or MRI). Risk-reducing surgery was discussed with 172 (84.3%) mutation carriers and 120 (58.5%) individuals opted for risk-reducing breast and/or gynaecology surgeries. However, chemoprevention was discussed with just 8 (3.9%) mutation carriers and only 2 individuals commenced chemoprevention. Conclusion: These findings prompted our services to review the clinical management pathway of newly diagnosed mutation carriers. In collaboration with our clinical genetics colleagues, the method of discussion and delivery of all prevention methods is being worked on. Developing written booklets as aides would provide guidance for councillors, but also sufficient information for patients to make informed decisions regarding their cancer prevention.
Topic: Other
Background: Approximately 5-10% of all breast cancers are hereditary, of which 20-25% are associated with a mutation in either BRCA1, BRCA2 or TP53 gene. Despite the availability of national guidelines, the clinical management of mutation carriers in Tayside was unclear. This study aimed to establish the clinical management of mutation carriers and contribute to service improvement. MethodsCaldicott's approval was granted and the clinical details were collected retrospectively from 2007 to 2017. The current clinical practice was compared to the national SIGN and NICE guidelines. Results299 female mutation carriers (119 BRCA1, 179 BRCA2 and 1 TP53) were identified in Tayside. The mean age was 48.6 years (range 18-87). Mutation carriers were referred following a diagnosis of cancer (45.1%) or through cascade genetic testing (45.6%). During genetic counselling, surveillance screening was discussed with the majority of mutation carriers (n=161, 78.9%). 132 (64.7%) individuals opted for routine imaging surveillance (mammogram and/or MRI). Risk-reducing surgery was discussed with 172 (84.3%) mutation carriers and 120 (58.5%) individuals opted for risk-reducing breast and/or gynaecology surgeries. However, chemoprevention was discussed with just 8 (3.9%) mutation carriers and only 2 individuals commenced chemoprevention. Conclusion: These findings prompted our services to review the clinical management pathway of newly diagnosed mutation carriers. In collaboration with our clinical genetics colleagues, the method of discussion and delivery of all prevention methods is being worked on. Developing written booklets as aides would provide guidance for councillors, but also sufficient information for patients to make informed decisions regarding their cancer prevention.
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