Document Details

Document Type : Article In Journal 
Document Title :
Characterization of familial breast cancer in Saudi Arabia
Characterization of familial breast cancer in Saudi Arabia
 
Document Language : English 
Abstract : BACKGROUND: The contribution of genetic factors to the development of breast cancer in the admixed and consanguineous population of the western region of Saudi Arabia is thought to be significant as the disease is early onset. The current protocols of continuous clinical follow-up of relatives of such patients are costly and cause a burden on the usually over-stretched medical resources. Discovering the significant contribution of BRCA1/2 mutations to breast cancer susceptibility allowed for the design of genetic tests that allows the medical practitioner to focus the care for those who need it most. However, BRCA1/2 mutations do not account for all breast cancer susceptibility genes and there are other genetic factors, known and unknown that may play a role in the development of such disease. The advent of whole-exome sequencing is offering a unique opportunity to identify the breast cancer susceptibility genes in each family of sufferers. The polymorphisms/mutations identified will then allow for personalizing the genetic screening tests accordingly. To this end, we have performed whole-exome sequencing of seven breast cancer patients with positive family history of the disease using the Agilent SureSelect™ Whole-Exome Enrichment kit and sequencing on the SOLiD™ platform. RESULTS: We have identified several coding single nucleotide variations that were either novel or rare affecting genes controlling DNA repair in the BRCA1/2 pathway. CONCLUSION: The disruption of DNA repair pathways is very likely to contribute to breast cancer susceptibility in the Saudi population. 
ISSN : 1471-2164 
Journal Name : BMC Genomics 
Volume : 16 
Issue Number : 1 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Monday, April 25, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Adnan MerdadMerdad, Adnan Investigator  
Mamdooh A GariGari, Mamdooh AResearcher  
Shireen HusseinHussein, Shireen Researcher  
Shadi Al-KhayatAl-Khayat, Shadi Researcher  
Hana TashkandiTashkandi, Hana Researcher  
Jaudah Al-MaghrabiAl-Maghrabi, Jaudah Researcher  
Fatma Al-ThubaitiAl-Thubaiti, Fatma Researcher  
Ibtessam R HusseinHussein, Ibtessam RResearcher  
Taha KoumosaniKoumosani, Taha Researcher  
Nehad ShaerShaer, Nehad Researcher  
Adeel G ChaudharyChaudhary, Adeel GResearcher  
Adel M AbuzenadahAbuzenadah, Adel MResearcher  
Mohammed H. Al-QahtaniAl-Qahtani, Mohammed H.Researcher  
Ashraf DallolDallol, Ashraf Researcher adallol@kau.edu.sa

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