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Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
BackgroundColorectal neoplasia is one of the most common tumors affecting Western populations.
MethodsIn this study we used a custom amplicon...
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A collaborative genetic carrier screening model for the British Ashkenazi Jewish community
We present a unique model of a British genetic carrier screening programme for individuals with Ashkenazi Jewish ancestry that exemplifies a...
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Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant
A missense variant (p.Ser428Phe [S428F]) in the CHEK2 gene is reportedly associated with a 2–3 fold increase in breast cancer risk in Ashkenazi Jews....
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Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women
Pathogenic variants in the BRCA1 and BRCA2 ( BRCA1/2 ) genes are associated with elevated cancer risks in men and women. Due to a founder effect,...
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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
MSTO1 is a cytoplasmic protein that modulates mitochondrial dynamics by promoting mitochondrial fusion. Mutations in the MSTO1 gene are responsible...
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical...
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Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals
Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret...
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Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals
Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in...
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
BackgroundThe American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While...
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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population
Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and...
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Risk-management decision-making data from a community-based sample of racially diverse women at high risk of breast cancer: rationale, methods, and sample characteristics of the Daughter Sister Mother Project survey
BackgroundTo understand the dynamics that limit use of risk-management options by women at high risk of breast cancer, there is a critical need for...
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A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews
Congenital stationary night blindness (CSNB) is a disease affecting the night vision of individuals. Previous studies identified TRPM1 as a gene...
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BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis
BackgroundBRCA1 and BRCA2 pathogenic variants (PVs) are associated with prostate cancer (PCa) risk, but a wide range of relative risks (RRs) has...
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Mutation Analysis of F11 Gene in Patients with FXI Deficiency in Russia
AbstractFactor FXI is an essential participant of the blood coagulation cascade and is coded by the F11 gene, mutations in which lead to an...
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Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology
BackgroundGenomic alterations in 8 genes are now the targets of FDA-approved therapeutics in non-small cell lung cancer (NSCLC), but their...
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Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
PurposeTo evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation.
Methods ...
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Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
AbstractJuvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation...
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Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center
PurposeThe prevalence of pathogenic variants in BRCA1 and BRCA2 in populations other than Ashkenazi Jewish (AJ) is not well defined. We describe the...
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MHC Haploty** of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population
HLA haplotypes were found to be associated with increased risk for viral infections or disease severity in various diseases, including SARS. Several...
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Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk
BackgroundIndividuals with a family history of cancer may be at increased risk of pancreatic cancer. Ashkenazi Jewish (AJ) individuals carry...