Abstract

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.
Lingua originaleEnglish
pagine (da-a)99-102
Numero di pagine4
RivistaAnnals of Oncology
Volume18 (suppl.6)
Stato di pubblicazionePublished - 2007

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Sicily
BRCA1 Gene
Italy
Mutation
Founder Effect
Mutation Rate
Haplotypes
Alleles
Population
Microsatellite Repeats
Ovarian Neoplasms
Breast Neoplasms

Cita questo

4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily). /.

In: Annals of Oncology, Vol. 18 (suppl.6), 2007, pag. 99-102.

Risultato della ricerca: Article

@article{e62bab56cb1f495b938a3f57c7d09756,
title = "4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).",
abstract = "Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.",
author = "Nicolo' Gebbia and Gaspare Gulotta and Antonio Russo and Viviana Bazan and Massimo Cajozzo and Giuseppe Badalamenti and Chiara Intrivici and Valentina Calo' and Sandra Cascio and Valentina Agnese and Claudia Augello and Loredana Bruno and Valentina Schiro' and Elena Foddai and Floriana Barbera",
year = "2007",
language = "English",
volume = "18 (suppl.6)",
pages = "99--102",
journal = "Annals of Oncology",
issn = "0923-7534",
publisher = "Oxford University Press",

}

TY - JOUR

T1 - 4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

AU - Gebbia, Nicolo'

AU - Gulotta, Gaspare

AU - Russo, Antonio

AU - Bazan, Viviana

AU - Cajozzo, Massimo

AU - Badalamenti, Giuseppe

AU - Intrivici, Chiara

AU - Calo', Valentina

AU - Cascio, Sandra

AU - Agnese, Valentina

AU - Augello, Claudia

AU - Bruno, Loredana

AU - Schiro', Valentina

AU - Foddai, Elena

AU - Barbera, Floriana

PY - 2007

Y1 - 2007

N2 - Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.

AB - Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.

UR - http://hdl.handle.net/10447/9069

M3 - Article

VL - 18 (suppl.6)

SP - 99

EP - 102

JO - Annals of Oncology

JF - Annals of Oncology

SN - 0923-7534

ER -