titoli, abstracts, parole chiave >>>
Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening

Palomba, Grazia and Pisano, Marina and Cossu, Antonio and Budroni, Mario and Dedola, Maria Filomena and Farris, Antonio and Contu, Antonio and Baldinu, Paola and Tanda, Francesco and Palmieri, Giuseppe (2005) Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening. Cancer, Vol. 104 (6), p. 1172-1179. eISSN 1097-0142. Article.

Full text not available from this repository.

DOI: 10.1002/cncr.21298

Abstract

BACKGROUND. Factors that are predictive of carrying BRCA1 and BRCA2 germline mutations in patients with breast carcinoma are awaited widely. The genetically homogeneous Sardinian population may be useful for de.ning the role of such genetic alterations further through a clinical evaluation program. METHODS. One hundred two of 659 patients with breast carcinoma (15.5%) who were collected consecutively had a family history of breast carcinoma and were screened for BRCA1/2 mutations by denaturing high-performance liquid chromatography and DNA sequencing. RESULTS. Three deleterious germline BRCA1/2 mutations were detected in 15 of 102 families (14.7%), including 13 families (86.7%) with BRCA2 mutations and 2 families (13.3%) with BRCA1 mutations. A single variant, BRCA2-8765delAG, was the most recurrent mutation in the series and was found in 12 of 102 families (11.8%) and in 18 of 657 patients (2.7%). The average age at diagnosis was significantly younger in families with BRCA1/2 mutations (48.6 yrs) compared with the age of patients who had no detectable mutation (52.9 yrs; P = 0.039). Moreover, BRCA1/2 mutations were found at a signi.cantly higher rate in families who had at least 1 member with ovarian carcinoma or male breast carcinoma (5 of 12 families; 41.7%) than in families without such an association (10 of 90 families; 11.1%; P = 0.003). CONCLUSIONS. BRCA2 mutations were approximately 6 times more prevalent than BRCA1 mutations. A diagnosis of breast carcinoma before age 50 years, ovarian carcinoma, male breast carcinoma, and 3 affected generations all were associated signi.cantly with BRCA1/2 mutations. Although the current .ndings provided further support for the hypothesis that additional breast carcinoma susceptibility genes remain to be identi.ed, such indicators of the presence of BRCA1/2 mutations may be useful in counseling patients about undergoing genetic testing.

Item Type:Article
ID Code:1315
Status:Published
Refereed:Yes
Uncontrolled Keywords:BRCA1 gene, BRCA2 gene, polymerase chain reaction, mutation analysis, genetic counseling, breast cancer risk.
Subjects:Area 06 - Scienze mediche > MED/06 Oncologia medica
Area 06 - Scienze mediche > MED/08 Anatomia patologica
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari > Ospedale civile SS. Annunziata
001 Università di Sassari > 03 Istituti > Clinica medica generale e terapia medica
002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari > Centro multizonale di osservazione epidemiologica
001 Università di Sassari > 03 Istituti > Anatomia patologica
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di chimica biomolecolare, Sassari
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di genetica delle popolazioni, Alghero
Publisher:Wiley
eISSN:1097-0142
Copyright Holders:© 2005 American Cancer Society
Deposited On:18 Aug 2009 10:04

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

Repository Staff Only: item control page