The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.
Sign Up to like & getrecommendations! 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
ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Assessing Psychological Morbidity in Cancer-Unaffected BRCA1/2 Pathogenic Variant Carriers: A Systematic Review
Sign Up to like & getrecommendations! 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