NDLI: Characterization of familial breast cancer in Saudi Arabia

Content Provider	Springer Nature : BioMed Central
Author	Merdad, Adnan Gari, Mamdooh A Hussein, Shireen Al-Khayat, Shadi Tashkandi, Hana Al-Maghrabi, Jaudah Al-Thubaiti, Fatma Hussein, Ibtessam R Koumosani, Taha Shaer, Nehad Chaudhary, Adeel G Abuzenadah, Adel M Al-Qahtani, Mohammed H Dallol, Ashraf
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.
Related Links	https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-16-S1-S3.pdf
Ending Page	7
Page Count	7
Starting Page	1
File Format	HTM / HTML
ISSN	14712164
DOI	10.1186/1471-2164-16-S1-S3
Journal	BMC Genomics
Issue Number	1
Volume Number	16
Language	English
Publisher	BioMed Central
Publisher Date	2015-01-15
Access Restriction	Open
Subject Keyword	Life Sciences Microarrays Proteomics Animal Genetics and Genomics Microbial Genetics and Genomics Plant Genetics and Genomics hereditary breast cancer DNA repair whole-exome sequencing
Content Type	Text
Resource Type	Article
Subject	Biotechnology Genetics
Journal Impact Factor	3.5/2023
5-Year Journal Impact Factor	4.1/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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Characterization of familial breast cancer in Saudi Arabia.

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Characterization of familial breast cancer in Saudi Arabia

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Characterization of familial breast cancer in Saudi Arabia.

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Characterization of familial breast cancer in Saudi Arabia