Up to 10% of individuals with breast cancer (BC) belong to families with hereditary syndromes. The aim of this study was to develop an instrument to identify individuals/families at high-hereditary risk for BC and offer dedicated surveillance programs according to different risks. METHODS: The instrument consisted of a primary questionnaire collecting history of BC and ovarian cancer (OC). This questionnaire was applied to women enrolled in the Emilia-Romagna Breast Cancer Screening Program. General practitioners (GPs) and specialists could propose the same questionnaire too. Women with a score of ≥ 2, were invited to complete an oncogenetic counseling. According to the Tyrer-Cuzick evaluation, women considered at high risk were invited to involve the most representative alive individual of the family affected with BC/OC for BRCA1/2 genetic testing. RESULTS: Since January 2012 and December 2016, 660 040 women were evaluated by the regional screening program, of which 22 289 (3.5%) were invited to the Spoke evaluation, but only 5615 accepted (25.2%). Totally, also considering women sent by GPs and specialists, 11 667 were assessed and 5554 were sent to the Hub evaluation. Finally, 2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers. CONCLUSIONS: To our knowledge, this is the first regional population-based multistep model that is aimed to identify individuals with BRCA1/2 mutations and to offer an intensive surveillance program for hereditary-high risk women. This tool is feasible and effective, even if more efforts must be performed to increase the acceptance of multiple assessments by the study population.

A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results

Razzaboni, Elisabetta;De Iaco, Pierandrea;Godino, Lea;Perrone, Anna Myriam;Pignatti, Marco;Taffurelli, Mario;Turchetti, Daniela;Zamagni, Claudio;
2020

Abstract

Up to 10% of individuals with breast cancer (BC) belong to families with hereditary syndromes. The aim of this study was to develop an instrument to identify individuals/families at high-hereditary risk for BC and offer dedicated surveillance programs according to different risks. METHODS: The instrument consisted of a primary questionnaire collecting history of BC and ovarian cancer (OC). This questionnaire was applied to women enrolled in the Emilia-Romagna Breast Cancer Screening Program. General practitioners (GPs) and specialists could propose the same questionnaire too. Women with a score of ≥ 2, were invited to complete an oncogenetic counseling. According to the Tyrer-Cuzick evaluation, women considered at high risk were invited to involve the most representative alive individual of the family affected with BC/OC for BRCA1/2 genetic testing. RESULTS: Since January 2012 and December 2016, 660 040 women were evaluated by the regional screening program, of which 22 289 (3.5%) were invited to the Spoke evaluation, but only 5615 accepted (25.2%). Totally, also considering women sent by GPs and specialists, 11 667 were assessed and 5554 were sent to the Hub evaluation. Finally, 2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers. CONCLUSIONS: To our knowledge, this is the first regional population-based multistep model that is aimed to identify individuals with BRCA1/2 mutations and to offer an intensive surveillance program for hereditary-high risk women. This tool is feasible and effective, even if more efforts must be performed to increase the acceptance of multiple assessments by the study population.
2020
Cortesi, Laura; Baldassarri, Bruna; Ferretti, Stefano; Razzaboni, Elisabetta; Bella, Mariangela; Bucchi, Lauro; Canuti, Debora; De Iaco, Pierandrea; De Santis, Giorgio; Falcini, Fabio; Galli, Vania; Godino, Lea; Leoni, Maurizio; Perrone, Anna Myriam; Pignatti, Marco; Saguatti, Gianni; Santini, Donatella; Sassoli de'Bianchi, Priscilla; Sebastiani, Federica; Taffurelli, Mario; Tazzioli, Giovanni; Turchetti, Daniela; Zamagni, Claudio; Naldoni, Carlo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/724865
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