TY - JOUR
T1 - A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results
AU - Cortesi, Laura
AU - Baldassarri, Bruna
AU - Ferretti, Stefano
AU - Razzaboni, Elisabetta
AU - Bella, Mariangela
AU - Bucchi, Lauro
AU - Canuti, Debora
AU - De Iaco, Pierandrea
AU - De Santis, Giorgio
AU - Falcini, Fabio
AU - Galli, Vania
AU - Godino, Lea
AU - Leoni, Maurizio
AU - Perrone, Anna Myriam
AU - Pignatti, Marco
AU - Saguatti, Gianni
AU - Santini, Donatella
AU - Sassoli de'Bianchi, Priscilla
AU - Sebastiani, Federica
AU - Taffurelli, Mario
AU - Tazzioli, Giovanni
AU - Turchetti, Daniela
AU - Zamagni, Claudio
AU - Naldoni, Carlo
PY - 2020/1/1
Y1 - 2020/1/1
N2 - 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.
AB - 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.
KW - hereditary breast ovarian cancer
KW - population-based screening
KW - Tyrer-Cuzick model
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U2 - 10.1002/cam4.2824
DO - 10.1002/cam4.2824
M3 - Article
C2 - 32045136
AN - SCOPUS:85079400346
JO - Cancer Medicine
JF - Cancer Medicine
SN - 2045-7634
ER -