title: A Comparative Analysis of Breast and Ovarian Cancer-related Gene Mutations in Canadian and Saudi Arabian Patients with Breast Cancer.
abstract: Previous reports have indicated that patients with breast cancer who are from the Eastern Province of Saudi Arabia have a different gene expression profile from that known for their age-matched North American population. In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition. A total of 129 non-synonymous mutations were identified by Ion Torrent amplicon sequencing. Forty-one mutations in 18 genes were unique to the Canadian population and 59 mutations in 20 genes were unique to the Saudi Arabian population. A total of 55/129 unique mutations in 22 genes were not previously reported in the database. Twenty-nine mutations in 16 genes were common to both populations; one of these mutations was not previously reported in the database. The most frequently mutated gene in both populations was the BRCA2 gene, followed by BRCA1 and TP53. Unique to this work is the identification of mutations frequently found in the Saudi Arabian population that are rare in the Canadian population. This work will allow direction of genetic analysis resources toward the clinical needs of each particular population.
authors.affiliation: Genomics Core Facility, Toronto, ON, Canada Sunnybrook Research Institute, Toronto, ON, Canada.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Amemiya
authors.affiliation: Sunnybrook Research Institute, Toronto, ON, Canada.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Bacopulos
authors.affiliation: University of Dammam, Dammam, Kingdom of Saudi Arabia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Al-Shawarby
authors.affiliation: University of Dammam, Dammam, Kingdom of Saudi Arabia.
authors.forename: Dalal
authors.initials: D
authors.lastname: Al-Tamimi
authors.affiliation: King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia.
authors.forename: Walid
authors.initials: W
authors.lastname: Naser
authors.affiliation: King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia.
authors.forename: Ayesha
authors.initials: A
authors.lastname: Ahmed
authors.affiliation: Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Khalifa
authors.affiliation: Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Slodkowska
authors.affiliation: Genomics Core Facility, Toronto, ON, Canada Sunnybrook Research Institute, Toronto, ON, Canada Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada arun.seth@utoronto.ca.
authors.forename: Arun
authors.initials: A
authors.lastname: Seth
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002170:Canada; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D012529:Saudi Arabia; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: Breast cancer; Canadian patients; Saudi Arabian patients; comparative study; mutations; next generation sequencing; ovarian cancer