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

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.

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

“…Many relatives might have been invited by more than one respondent, which further decreases the response rate to the cohort. A response rate of 25–50% has been reported in other family-based cohorts [ 13 , 30 ]. Rates of carrier testing in relatives were similar to another European-based study [ 31 ], confirming that at least one in three at-risk individuals do not receive cascade testing.…”

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

“…The recruitment was fulfilled according to the Emilia Romagna Regional Program for hereditary risk of breast and ovarian cancer, based on the age at BC/OC onset, number of tumor cases in I- and II-degree relatives, and pathological characteristics of cancers. Genetic testing was performed on all individuals > 18 years old, selected according to the regional program guidelines and Italian Association of Medical Oncology [ 21 , 22 ]. All subjects underwent genetic counseling before testing and after the test result.…”

An Overview of PARP Inhibitors for the Treatment of Breast Cancer

“…However, some patients with BRCA mutations may be missed owing to undertesting; in the USA, only 5.1% and 2.7% of eligible women (based on family history of BRCA mutation-associated cancers) reported uptake of genetic counseling and testing, respectively [101,102]. Eligibility for and uptake of BRCA testing varies among countries [103][104][105], and use of international testing criteria is not feasible for all countries owing to disparities in resources [106]. There are racial disparities in BRCA testing uptake [101,[107][108][109][110][111][112].…”