Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing

BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we re...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Cancers Ročník 13; číslo 18; s. 4714
Hlavní autoři: Patruno, Margherita, De Summa, Simona, Resta, Nicoletta, Caputo, Mariapia, Costanzo, Silvia, Digennaro, Maria, Pilato, Brunella, Bagnulo, Rosanna, Pantaleo, Antonino, Simone, Cristiano, Natalicchio, Maria Iole, De Matteis, Elisabetta, Tarantino, Paolo, Tommasi, Stefania, Paradiso, Angelo
Médium: Journal Article
Jazyk:angličtina
Vydáno: Basel MDPI AG 21.09.2021
MDPI
Témata:
Age
BRCA1 protein
BRCA2 protein
Breast cancer
Data collection
Founder effect
Genes
Genetic screening
Genotypes
Geographical distribution
Males
Mutation
Ovarian cancer
Patients
Phenotypes
Population
Population studies
Tumors
Italy
Apulia Italy
ISSN:2072-6694, 2072-6694
On-line přístup:Získat plný text
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
Popis
Shrnutí:BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects.
Bibliografie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ISSN:2072-6694
2072-6694
DOI:10.3390/cancers13184714