UnissResearch

Logo Universitàegli studi di Sassari
titoli, abstracts, parole chiave >>>
A Role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population

Palomba, Grazia and Loi, Angela and Uras, Antonella and Fancello, Patrizia and Piras, Giovanna and Gabbas, Attilio and Cossu, Antonio and Budroni, Mario and Contu, Antonio and Tanda, Francesco and Farris, Antonio and Orrù, Sandra and Floris, Carlo and Pisano, Marina and Lovicu, Mario and Santona, Maria Cristina and Landriscina, Gennaro and Crisponi, Laura and Palmieri, Giuseppe and Monne, Maria (2009) A Role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population. BMC Cancer, Vol. 9 (245), p. 1-10. ISSN 1471-2407. Article.

[img]
Preview
Full text disponibile come PDF Richiede visualizzatore di PDF come GSview, Xpdf o Adobe Acrobat Reader
Available under License Creative Commons Attribution.

270Kb

DOI: 10.1186/1471-2407-9-245

Abstract

Background. In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated.
Methods. Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test.
Results and Conclusion. Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations.

Item Type:Article
ID Code:3543
Status:Published
Refereed:Yes
Uncontrolled Keywords:BRCA1, BRCA2, germline mutations, breast cancer, Sardinia
Subjects:Area 06 - Scienze mediche > MED/06 Oncologia medica
Area 06 - Scienze mediche > MED/08 Anatomia patologica
Divisions:001 Università di Sassari > 03 Istituti > Clinica medica generale e terapia medica
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di chimica biomolecolare, Sassari > Unità genetica dei tumori
002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari
001 Università di Sassari > 03 Istituti > Anatomia patologica
Publisher:BioMed Central
ISSN:1471-2407
Deposited On:27 Jan 2010 11:52

I documenti depositati in UnissResearch sono protetti dalle leggi che regolano il diritto d'autore

Repository Staff Only: item control page