Background: 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 / Cortesi, L.; Baldassarri, B.; Ferretti, S.; Razzaboni, E.; Bella, M.; Bucchi, L.; Canuti, D.; De Iaco, P.; De Santis, G.; Falcini, F.; Galli, V.; Godino, L.; Leoni, M.; Perrone, A. M.; Pignatti, M.; Saguatti, G.; Santini, D.; Sassoli de'Bianchi, P.; Sebastiani, F.; Taffurelli, M.; Tazzioli, G.; Turchetti, D.; Zamagni, C.; Naldoni, C.. - In: CANCER MEDICINE. - ISSN 2045-7634. - 9:7(2020), pp. 2579-2589. [10.1002/cam4.2824]

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

Razzaboni E.;Bella M.;De Santis G.;Galli V.;Pignatti M.;Santini D.;Sebastiani F.;Tazzioli G.;Turchetti D.;Naldoni C.
2020

Abstract

Background: 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
11-feb-2020
9
7
2579
2589
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results / Cortesi, L.; Baldassarri, B.; Ferretti, S.; Razzaboni, E.; Bella, M.; Bucchi, L.; Canuti, D.; De Iaco, P.; De Santis, G.; Falcini, F.; Galli, V.; Godino, L.; Leoni, M.; Perrone, A. M.; Pignatti, M.; Saguatti, G.; Santini, D.; Sassoli de'Bianchi, P.; Sebastiani, F.; Taffurelli, M.; Tazzioli, G.; Turchetti, D.; Zamagni, C.; Naldoni, C.. - In: CANCER MEDICINE. - ISSN 2045-7634. - 9:7(2020), pp. 2579-2589. [10.1002/cam4.2824]
Cortesi, L.; Baldassarri, B.; Ferretti, S.; Razzaboni, E.; Bella, M.; Bucchi, L.; Canuti, D.; De Iaco, P.; De Santis, G.; Falcini, F.; Galli, V.; Godi...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1205009
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