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

Laura Cortesi,Mario Taffurelli,Debora Canuti,Carlo Naldoni,Marco Pignatti,Maurizio Leoni,Daniela Turchetti,Lea Godino,Donatella Santini,Bruna Baldassarri,Vania Galli,Claudio Zamagni,Fabio Falcini,Lauro Bucchi,Mariangela Bella,Giorgio De Santis,Elisabetta Razzaboni,Pierandrea De Iaco,Gianni Saguatti,Anna Myriam Perrone,Federica Sebastiani,Stefano Ferretti,Priscilla Sassoli De'Bianchi,Giovanni Tazzioli

doi:10.1002/cam4.2824

Abstract

BackgroundUp 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.MethodsThe 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.ResultsSince 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.ConclusionsTo 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.

Highlights

Hereditary breast ovarian cancer (HBOC) can be defined as a genetic disorder in which breast and ovarian malignant tumors seem to cluster within families.[1]
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 breast cancer (BC)/OC for BRCA1/2 genetic testing
2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers

Summary

| INTRODUCTION

Hereditary breast ovarian cancer (HBOC) can be defined as a genetic disorder in which breast and ovarian malignant tumors seem to cluster within families.[1]. Women with a risk more than three times (profile 3 or high) were evaluated for referring to the Hub center with the aim to perform gene test analysis This model assessment was chosen among different risk calculators, that is, Gail, Claus, Ford, and manual model. It looked to be likely the most sensitive model to select women at high risk, apart from the lack of male breast cancer family history evaluation.[20] women who were sent to the Hub center were further evaluated for BRCA1/2 genetic testing according to the Modena criteria.[21]. For the C3 classes, a customized pipeline for variant calling was questioned every month in order to find an eventual reclassification

| RESULTS

| DISCUSSION

Findings

CONFLICT OF INTEREST