Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer
Cancer Biomarkers, Volume 4, No. 1, Year 2008
Notification
URL copied to clipboard!
Description
Breast cancer, the most commonly diagnosed cancer in women, is the second leading cause of cancer death in women worldwide. To investigate the contribution of BRCA1 gene mutations to familial breast cancer in Tunisia, 32 unrelated patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. BRCA1 mutation analysis was performed by DNA sequencing of all BRCA1 exons. We identified four different BRCA1 frameshift mutations: c.4041delAG, c.2551delG and c.5266dupC already been described and one novel mutation, c.211dupA, observed in two unrelated families. C.5266dupC has previously been found among Jewish Ashkenazi and Eastern European populations. Our study describes it in Arabic/Berber population. Five out of thirty two familial cases had deleterious BRCA1 mutations. Fifteen additional cases carried unclassified variants (UV) or single nucleotide polymorphisms (SNPs). Our study is the first molecular investigation on the role of BRCA1 in hereditary breast cancer in North Tunisia. © 2008 IOS Press. All rights reserved.
Authors & Co-Authors
Troudi, Wafa
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Tunisia, Tunis
Institut Salah Azaiez de Tunis
Uhrhammer, Nancy A.
France, Clermont-ferrand
Centre Jean Perrin
Ben Romdhane, Khaled Beb
Tunisia, Tunis
Institut Salah Azaiez de Tunis
Sibille, Catherine
Belgium, Louvain-la-neuve
Université Catholique de Louvain
Amor, Mohamed Ben
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Khodjet-El-Khil, H.
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Jalabert, T.
France, Clermont-ferrand
Centre Jean Perrin
Mahfoudh, Wijden
Tunisia, Monastir
Faculty of Medecine
Chouchane, Lotfi
Tunisia, Monastir
Faculty of Medecine
Ben-Ayed, Farhat
Tunisia, Tunis
Institut Salah Azaiez de Tunis
Bignon, Yves Jean
France, Clermont-ferrand
Centre Jean Perrin
Elgaâïed, Amel Benammar A.
Tunisia, Tunis
Université de Tunis el Manar, Faculté Des Sciences de Tunis
Statistics
Citations: 28
Authors: 12
Affiliations: 5
Identifiers
Doi:
10.3233/CBM-2008-4102
ISSN:
15740153
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Tunisia
Participants Gender
Female