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GENE:

POT1 (Protection of telomeres 1)

News alerts, weekly reports and conference planners

Melanoma: a genetics guide for surgeons. (PubMed, Melanoma Res)

Melanoma-dominant syndromes, such as CDKN2A , CDK4 , and POT1 , and melanoma-subordinate syndromes are described herein. Knowledge of these conditions will enable surgeons to incorporate these genetic insights into clinical practice and offer more personalised and effective care to patients with melanoma.

8 days ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDK4 (Cyclin-dependent kinase 4) • POT1 (Protection of telomeres 1)

10d

Clinical, genetic, and familial features of POT1 tumor predisposition syndrome. (PubMed, Cancer)

This analysis provides insights into the clinical features and familial patterns of malignancy of individuals with POT1-TPD. Identification through genetic counseling and augmented cancer screening is paramount.

10 days ago

Journal

IGH (Immunoglobulin Heavy Locus) • POT1 (Protection of telomeres 1)

IGH mutation

13d

Relationship between genetically determined telomere length and childhood glioma risk. (PubMed, Acta Neuropathol Commun)

In conclusion, this study provides the first genetic evidence linking longer genetically predicted LTL to increased pediatric glioma risk. While overall consistent with adult findings, distinct single-SNP associations, and age-dependent effects highlight unique biological mechanisms in children with glioma, warranting further direct investigation into telomere dynamics in early-life gliomagenesis.

13 days ago

Journal

POT1 (Protection of telomeres 1)

Lymphoid malignancy and clonality in the POT1-mediated long telomere syndrome. (PubMed, Blood)

IGH CDR3 sequencing supported age-dependent pruning of the B cell repertoire, and cytogenetic and next-generation analyses uncovered preclinical clonal lymphoma-associated changes in nearly all POT1 variant carriers older than 60 (9 of 10). Our data identify extended cellular longevity due to long TL as an inherited risk factor for lymphoma explaining its syndromic association with solid tumors, and in some cases, myeloproliferative neoplasms.

1 month ago

Journal

POT1 (Protection of telomeres 1)

Unfolding the enigma of familial Hodgkin lymphoma: Current insights. (PubMed, World J Clin Cases)

Recognizing the risk for first-degree relatives may potentially increase awareness of early symptoms among family members of HL patients, leading to earlier diagnosis and better outcomes. Conversely, understanding that the hereditary risk, though higher than in the general population, remains relatively low may provide reassurance for affected families.

1 month ago

Review • Journal

KDR (Kinase insert domain receptor) • PAX5 (Paired Box 5) • DICER1 (Dicer 1 Ribonuclease III) • POT1 (Protection of telomeres 1) • EEF2K (Eukaryotic Elongation Factor 2 Kinase) • GATA3 (GATA binding protein 3) • IRF7 (Interferon Regulatory Factor 7)

2ms

Study of Epcoritamab as a Consolidation Therapy in CLL/SLL (clinicaltrials.gov)

P2, N=22, Recruiting, Zulfa Omer | Not yet recruiting --> Recruiting

2 months ago

Enrollment open

MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • CD79B (CD79b Molecule) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • BIRC3 (Baculoviral IAP repeat containing 3) • CD5 (CD5 Molecule) • POT1 (Protection of telomeres 1) • H1-4 (H1.4 Linker Histone, Cluster Member) • NFKBIE (NFKB Inhibitor Epsilon) • ZMYM3 (Zinc Finger MYM-Type Containing 3) • CHD2 (Chromodomain Helicase DNA Binding Protein 2) • FCER2 (Fc Fragment Of IgE Receptor II)

Chr del(11q)

clonoSEQ

Gazyva (obinutuzumab) • Epkinly (epcoritamab-bysp)

2ms

ESR-23-22182: Intermittent Versus Continuous Venetoclax With Acalabrutinib for CLL/SLL (clinicaltrials.gov)

P2, N=62, Recruiting, Zulfa Omer | Not yet recruiting --> Recruiting | Initiation date: Jun 2025 --> Dec 2025

2 months ago

Enrollment open • Trial initiation date

Chr del(11q)

clonoSEQ

Venclexta (venetoclax) • Calquence (acalabrutinib)

2ms

SG04 Early-onset superficial spreading melanoma and macrocephaly: think Cowden syndrome. (PubMed, Br J Dermatol)

In the literature, Cowden syndrome has been associated with breast cancer, thyroid cancer, endometrial cancer and a very small percentage of melanomas. However, this is the first report of Cowden syndrome that has been diagnosed after an early-onset superficial spreading melanoma.

2 months ago

Journal • BRCA Biomarker

BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POT1 (Protection of telomeres 1)

PTEN mutation

2ms

P059 Familial melanoma germline testing in a specialist dermatology genetics clinic. (PubMed, Br J Dermatol)

Further work is required to establish which criteria, either alone or in combination, are the most valuable in predicting positive tests. Dermatologists should be aware of familial melanoma testing criteria and referral to specialist dermatology genetics clinics for genetic counselling.

2 months ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POT1 (Protection of telomeres 1)

2ms

P006 An evaluation of digital mole mapping for patients at high risk of melanoma. (PubMed, Br J Dermatol)

Ten cases (average age 54.4 years) were immunosuppressed, with a range of aetiologies from lymphoma (n = 3) to azathioprine for inflammatory bowel disease (n = 2)...Because 84% of melanomas were detected at follow-up, and by Breslow thickness they were uniformly thin, this supports the effectiveness of the follow-up approach here. This evaluation of individuals with numerous melanocytic naevi supports this approach as an effective use of resources.

2 months ago

Retrospective data • Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • POT1 (Protection of telomeres 1)

3ms

POT1-AS1/IGF2BP2/GPX4 promotes temozolomide resistance and radioresistance in glioblastoma by inhibiting ferroptosis. (PubMed, Int J Radiat Biol)

POT1-AS1 promotes TMZ and radiation resistance in GBM by regulating ferroptosis through the IGF2BP2/GPX4 axis. Targeting this pathway may offer a new therapeutic strategy for overcoming GBM treatment resistance.

3 months ago

Journal

GPX4 (Glutathione Peroxidase 4) • POT1 (Protection of telomeres 1) • IGF2BP2 (Insulin Like Growth Factor 2 MRNA Binding Protein 2)

temozolomide

3ms

Genomic and Demographic Characteristics of Angiosarcoma as Described in the AACR Project GENIE Registry. (PubMed, Cancers (Basel))

In one of the largest genomic analyses of angiosarcoma to date, we identified recurrent alterations, suggesting potential future therapeutic targets.

3 months ago

Journal

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • KDR (Kinase insert domain receptor) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler) • NOTCH2 (Notch 2) • FAT1 (FAT atypical cadherin 1) • FLT4 (Fms-related tyrosine kinase 4) • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • POT1 (Protection of telomeres 1) • MSI2 (Musashi RNA Binding Protein 2) • ZFHX4 (Zinc Finger Homeobox 4)

TP53 mutation • PIK3CA mutation • CDKN2A deletion