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   Articles with "variant carriers" as a keyword



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The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.

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recommendations! Published in 2021 at "Experimental and molecular pathology"

DOI: 10.1016/j.yexmp.2021.104668

Abstract: Lynch syndrome (LS) is caused by a pathogenic heterozygous germline variant in one of the DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. LS-associated colorectal carcinomas (CRCs) are characterized by MMR deficiency and… read more here.

Keywords: variant carriers; pms2; crcs; pms2 deficient ... See more keywords

Phenotypic characterisation of SMAD4 variant carriers

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recommendations! Published in 2024 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2023-109632

Abstract: Background Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also… read more here.

Keywords: smad4 variant; connective tissue; variant carriers; juvenile polyposis ... See more keywords

Association of Pathogenic/Likely Pathogenic Genetic Variants for Cardiomyopathies With Clinical Outcomes: A Multiancestry Analysis in the All of Us Research Program.

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recommendations! Published in 2025 at "Circulation. Genomic and precision medicine"

DOI: 10.1161/circgen.124.005113

Abstract: BACKGROUND This study aimed to evaluate the prevalence of pathogenic/likely pathogenic cardiomyopathy variant carriers in a multiancestry US population and examine the risk of adverse clinical outcomes. METHODS This retrospective cohort study included multiancestry US… read more here.

Keywords: variant carriers; likely pathogenic; pathogenic likely; clinical outcomes ... See more keywords

Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy

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recommendations! Published in 2025 at "Circulation"

DOI: 10.1161/circulationaha.124.072226

Abstract: BACKGROUND: Genetic variants in desmosomal cadherins, desmoglein 2 (DSG2) and desmocollin 2 (DSC2), cause a distinct form of arrhythmogenic right ventricular cardiomyopathy (ARVC), which remains poorly reported. In this study, we aimed to provide a… read more here.

Keywords: variant carriers; history; variant; right ventricular ... See more keywords

Dosing tolerability and adverse events (AEs) in dihydropyrimidine dehydrogenase ( DPYD ) variant carriers receiving genotyping-guided fluoropyrimidine (FP) dosing.

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recommendations! Published in 2025 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2025.43.16_suppl.3095

Abstract: 3095 Background: We previously showed that DPYD genotype-guided FP (5-FU, capecitabine) dosing reduces severe AEs and hospitalizations in variant carriers. However, optimal dose reduction and tolerability for individual DPYD variants are not well understood. This… read more here.

Keywords: variant carriers; adverse events; dosing tolerability; dpyd variant ... See more keywords

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers

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recommendations! Published in 2019 at "Journal of the Endocrine Society"

DOI: 10.1210/js.2019-00210

Abstract: Abstract Context Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing or subclinical Cushing syndrome and is associated with bilateral multinodular formation. ARMC5 is one of the responsible genes for PMAH. Objectives This… read more here.

Keywords: variant carriers; macronodular adrenal; hyperplasia pmah; primary macronodular ... See more keywords

Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort

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recommendations! Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000200384

Abstract: Background and Objectives Disease-modifying therapeutic trials for genetic frontotemporal dementia (FTD) are underway, but sensitive cognitive outcome measures are lacking. The aim of this study was to identify such cognitive tests in early stage FTD… read more here.

Keywords: plus nacc; pathogenic variant; nacc ftld; stage ... See more keywords

Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration

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recommendations! Published in 2024 at "Neurology"

DOI: 10.1212/wnl.0000000000209832

Abstract: Background and Objectives TMEM106B has been proposed as a modifier of disease risk in FTLD-TDP, particularly in GRN pathogenic variant carriers. Furthermore, TMEM106B has been investigated as a disease modifier in the context of healthy… read more here.

Keywords: pathogenic variant; variant carriers; volume cognition; variant ... See more keywords

Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia–Telangiectasia Mutated Variant Carriers

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recommendations! Published in 2024 at "Cancers"

DOI: 10.3390/cancers16071417

Abstract: Simple Summary Of the worldwide population, 0.5 to 1% of people are carrying a heterozygous mutation of Ataxia–Telangiectasia Mutated (ATM) gene. While the clinical radiosensitivity of carriers of germline biallelic inactivation of the ATM gene… read more here.

Keywords: acute late; telangiectasia mutated; breast; variant carriers ... See more keywords
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Assessing Psychological Morbidity in Cancer-Unaffected BRCA1/2 Pathogenic Variant Carriers: A Systematic Review

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recommendations! Published in 2023 at "Current Oncology"

DOI: 10.3390/curroncol30040274

Abstract: Female BRCA1/2 pathogenic variant carriers have an increased lifetime risk for breast and ovarian cancer. Cancer-unaffected women who are newly diagnosed with this pathogenic variant may experience psychological distress because of imminent health threat. No… read more here.

Keywords: cancer; pathogenic variant; review; cancer unaffected ... See more keywords

MYH6 Variants Are Associated with Atrial Dysfunction in Neonates with Hypoplastic Left Heart Syndrome

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recommendations! Published in 2024 at "Genes"

DOI: 10.3390/genes15111449

Abstract: Background: MYH6 variants are the most well-known genetic risk factor (10%) for hypoplastic left heart syndrome (HLHS) and are associated with decreased cardiac transplant-free survival. MYH6 encodes for α-myosin heavy chain (α-MHC), a contractile protein… read more here.

Keywords: hypoplastic left; variant carriers; heart; strain ... See more keywords