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. 2020 Apr;9(7):2579-2589.
doi: 10.1002/cam4.2824. Epub 2020 Feb 11.

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

Laura Cortesi  1 , Bruna Baldassarri  2 , Stefano Ferretti  2 , Elisabetta Razzaboni  1 , Mariangela Bella  3 , Lauro Bucchi  4 , Debora Canuti  5 , Pierandrea De Iaco  6 , Giorgio De Santis  7 , Fabio Falcini  4   8 , Vania Galli  9 , Lea Godino  10 , Maurizio Leoni  11 , Anna Myriam Perrone  6 , Marco Pignatti  7 , Gianni Saguatti  12 , Donatella Santini  13 , Priscilla Sassoli de'Bianchi  2 , Federica Sebastiani  1 , Mario Taffurelli  14 , Giovanni Tazzioli  15 , Daniela Turchetti  10 , Claudio Zamagni  16 , Carlo Naldoni  2
Affiliations

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

Laura Cortesi et al. Cancer Med. 2020 Apr.

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.

Keywords: Tyrer-Cuzick model; hereditary breast ovarian cancer; population-based screening.

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Conflict of interest statement

The authors declare that they have no financial disclosure and conflict of interests.

Figures

Figure 1
Figure 1
The flowchart of patients through the Spoke and Hub screening procedure. BC, breast cancer; GP, general practitioner; HR, high risk; IR, intermediate risk; LR, low risk; RBCSP, Regional Breast Cancer Screening Program
Figure 2
Figure 2
Number of patients evaluated along the process mapping
See this image and copyright information in PMC

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