Abstract：
BACKGROUND:Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first report of BRCA full gene sequencing conducted in a cohort of high-risk patients originating from Iraq. METHODS:This is a retrospective review of Iraqi patients diagnosed with breast or ovarian cancer referred for BRCA mutation testing at the American University of Beirut from January 2012 to October 2018. RESULTS:Of the 42 Iraqi women who underwent genetic testing at our institution, 3 BRCA pathogenic variants were found. Two mutations in BRCA1 c.224_227delAAAG and c.5431C > T and one mutation in BRCA2 c.5576_5579delTTAA were identified. Three other patients had sequence changes considered as variants of undetermined significance. CONCLUSION:In this cohort of high-risk patients, one out of the three pathogenic BRCA variants detected has not previously been reported in the Middle Eastern population. Further studies are required to delineate the spectrum of BRCA mutations in the Iraqi population.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Farra C,Dagher C,Hamadeh L,El Saghir N,Mukherji Ddoi
10.1186/s12881-019-0885-9subject
Has Abstractpub_date
2019-09-05 00:00:00pages
154issue
1issn
1471-2350pii
10.1186/s12881-019-0885-9journal_volume
20pub_type
杂志文章abstract：BACKGROUND:Celiac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenes...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-2-12
更新日期：2001-01-01 00:00:00
abstract：BACKGROUND:Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CASE PRESENTATION:In th...
journal_title：BMC medical genetics
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更新日期：2016-02-03 00:00:00
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journal_title：BMC medical genetics
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doi：10.1186/1471-2350-11-27
更新日期：2010-02-17 00:00:00
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更新日期：2010-05-02 00:00:00
abstract：BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...
journal_title：BMC medical genetics
pub_type： 杂志文章,meta分析
doi：10.1186/s12881-020-01073-3
更新日期：2020-06-29 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...
journal_title：BMC medical genetics
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doi：10.1186/1471-2350-9-63
更新日期：2008-07-07 00:00:00
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pub_type： 杂志文章
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更新日期：2012-11-30 00:00:00
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journal_title：BMC medical genetics
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doi：10.1186/1471-2350-11-53
更新日期：2010-04-01 00:00:00
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pub_type： 杂志文章,meta分析
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更新日期：2015-07-26 00:00:00
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journal_title：BMC medical genetics
pub_type： 杂志文章
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更新日期：2009-02-12 00:00:00
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pub_type： 杂志文章
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更新日期：2007-02-06 00:00:00
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更新日期：2019-07-16 00:00:00
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journal_title：BMC medical genetics
pub_type： 杂志文章
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更新日期：2014-02-26 00:00:00
abstract：BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...
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更新日期：2020-09-12 00:00:00
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pub_type： 杂志文章
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更新日期：2020-05-24 00:00:00
abstract：BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-015-0165-2
更新日期：2015-04-11 00:00:00
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更新日期：2009-07-17 00:00:00
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更新日期：2017-02-23 00:00:00
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更新日期：2012-05-18 00:00:00
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