A new founder <i>BRCA1</i> haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families

Capoluongo, Ettore; Matteis, Elisabetta De; Cucinotto, Iole; Ronzino, Graziana; Santonocito, Concetta; Tornesello, Assunta; Giorgio, Maria Rita De; Cordisco, Emanuela Lucci; Minucci, Angelo; Genuardi, Maurizio

doi:10.1515/cclm-2020-0389

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…This study is the first report about the landscape of germline BRCA1 and BRCA2 PVs in a large cohort of patients affected by breast and ovarian cancer coming from the Central-South Italy, where, as recently published by Capoluongo et al [59], it is quite probable to identify founder variants also in subjects belonging to apparently unrelated families. Moreover, as reported by Incorvaia et al [60], in such regions, like Sicily, specific pattern of gene alteration can be identified in hereditary breast and ovarian cancers patients, where BRCA1/2 PVs resulted as different from those usually detected in other geographical areas of Italy and Europe.…”

Section: Discussionmentioning

confidence: 53%

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

Santonocito

Rizza

Paris

et al. 2020

Cancers

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Pathogenic variants (PVs) carriers in BRCA1 or BRCA2 are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of BRCA1 and BRCA2 germline alterations is extremely variable among different ethnic groups. Particularly, the rate of variants in Italian BC and/or OC families is rather controversial and ranges from 8% to 37%, according to different reports. By In Vitro Diagnostic (IVD) next generation sequencing (NGS)-based pipelines, we routinely screened thousands of patients with either sporadic or cancer family history. By NGS, we identified new PVs and some variants of uncertain significance (VUS) which were also evaluated in silico using dedicated tools. We report in detail data regarding BRCA1/2 variants identified in 517 out of 2351 BC and OC patients. The aim of this study was to report the incidence and spectrum of BRCA1/2 variants observed in BC and/or OC patients, tested in at Policlinico Gemelli Foundation Hospital, the origin of which is mainly from Central and Southern Italy. This study provides an overview of the variant frequency in these geographic areas of Italy and provides data that could be used in the clinical management of patients.

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Section: Discussionmentioning

confidence: 53%

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

Santonocito

Rizza

Paris

et al. 2020

Cancers

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“…This mutation represents the most frequent in Italian population, and the percentage we found is also higher than in other Italian studies [ 29 , 32 ]. Another variant (c.1375A>T) was described as a founder mutation for Castrignano del Capo (a small city in Apulia) in the study of Capoluongo et al [ 33 ]. c.1375A>T was reported as pathogenic (Class 5; reviewed by Enigma Consortium in the year 2016) in the ClinVar database.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health

De Matteis,

Tumolo,

Tarantino

et al. 2024

Oncotarget

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Objectives: The aim of this exploratory, descriptive study was to characterize the deleterious BRCA1 and BRCA2 variants evaluated by genetic testing in a group of Ovarian cancer patients living in the Salento peninsula (Southern Italy). Methods: From June 2014 to July 2023, patients with histologically confirmed high-grade serous carcinoma, fallopian tube, or primary peritoneal cancer who were referred to Lecce Familial Cancer Clinic were considered. BRCA-mutation genetic testing was performed on these patients. Socio-demographic data and cancer epidemiology were assessed, and Next Generation Sequencing and Sanger DNA sequencing were performed. Results: The median age at the diagnosis of 332 ovarian cancer patients collected was 57 years. The pedigree analyses showed that 28.6% had familial cases and 39.7% had sporadic cases. Of the 319 patients submitted to genetic testing, 29.8% were carriers of BRCA1/2 mutation, 75.8% at BRCA1 and 24.2% at BRCA2 gene. Of the 21 BRCA1 mutations, the variant c.5266dupC was the most frequent alteration (28.4%). With respect to BRCA2, 13 mutations were found and the variant c.9676delT was the most frequently recorded (6.3%). Conclusions: This study reveals that the prevalence of germline mutations in the BRCA1 and BRCA2 genes was higher than reported by other studies. A broader understanding of the prevalence and role of BRCA mutations in development, response to treatment, and prognosis represents an exciting and developing area of ovarian cancer treatment and prevention.

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A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families

Cited by 2 publications

References 9 publications

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health

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