Identification of a founder BRCA2 mutation in Sardinian breast cancer families

The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore 'founder mutations' can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian cancer by sequencing the full-length c...

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Bibliographic Details
Published in:Familial cancer 2007-03, Vol.6 (1), p.73-79
Main Authors: Monne, Maria, Piras, Giovanna, Fancello, Patrizia, Santona, Maria Cristina, Uras, Antonella, Landriscina, Gennaro, Mastio, Giuseppe, Gabbas, Attilio
Format: Article
Language:English
Subjects:
Adult
Aged
BRCA2 Protein
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Breast Neoplasms, Male - epidemiology
Breast Neoplasms, Male - genetics
Female
Founder Effect
Frameshift Mutation
Genes, BRCA1
Genes, BRCA2
Haplotypes - genetics
Humans
Italy - epidemiology
Male
Middle Aged
Mutation, Missense
Neoplasms, Second Primary - genetics
Neoplastic Syndromes, Hereditary - epidemiology
Neoplastic Syndromes, Hereditary - genetics
Ovarian Neoplasms - epidemiology
Ovarian Neoplasms - genetics
Pedigree
Sequence Deletion
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Summary:The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore 'founder mutations' can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian cancer by sequencing the full-length coding regions of BRCA1 and BRCA2 genes. A novel BRCA2 frame-shift mutation, 3951del3insAT, which produces a protein truncated at codon 1258, was observed in six patients with BC from the same village. The mutation was not found in unaffected females (matched on basis of ethnicity and age) with no family history of cancer. Haplotype analysis strongly suggests that all affected persons had a common ancestor. The identification of this clinically significant founder mutation may facilitate screening/testing for inherited risk of breast cancer.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-006-9107-7