Results 151 to 160 of about 1,225,648 (255)
International Journal of Cancer, EarlyView.Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia +4 more
wiley +1 more source
A Case of Suspected Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
, 2001 Autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE) is a recently identified partial epilepsy. This disorder is characterized by a variable age of onset(mostly in childhood), autosomal dominant inheritance, clusters of brief frontal nocturnal ...
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International Journal of Cancer, EarlyView.ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad +5 more
wiley +1 more source
International Journal of Cancer, EarlyView.ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie +12 more
wiley +1 more source
MLH1 p.His112Arg Variant Is Associated With Increased Cancer Susceptibility
International Journal of Cancer, EarlyView.ABSTRACT Lynch syndrome, a prevalent hereditary cancer predisposition, is frequently caused by pathogenic variants in the MutL homolog 1 (MLH1) mismatch repair gene. However, a significant proportion of MLH1 missense variants remain classified as variants of uncertain significance (VUS), creating clinical ambiguity.
Amal Elfatih +10 more
wiley +1 more source
Autosomal Dominant Polycystic Kidney Disease
Saudi Journal of Kidney Diseases and Transplantation, 1999 Schwenger Vedat, Zeier Martin
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International Journal of Gynecology &Obstetrics, EarlyView.Abstract Lynch syndrome and BRCA‐mutation associated malignancies are fortunately rare. Affected patients have an increased risk of cancer diagnosis at a young age, often significantly overlapping with their reproductive years. In helping these patients, oncologists must navigate the following areas of care: cancer prevention, impact of cancer ...
Anna Weimer +20 more
wiley +1 more source
The Oncologist, EarlyView., 2021 Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth +10 more
wiley +1 more source
iMetaOmics, EarlyView.Natural populations of Marchantia polymorpha sampled across contrasting climatic regions show clear geographic differentiation between Europe and Japan based on polymorphic short tandem repeat (STR) variation. Genome‐wide association (GWAS) analyses identified pSTR loci whose repeat‐length variation tracks temperature‐related WorldClim variables.
Shuangyang Wu +4 more
wiley +1 more source