ArticleCancer cell international2019
Germline
Article in Cancer cell international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic and protein structure prediction analyses identify a rare pathogenic PKD1 variant causing autosomal dominant polycystic kidney disease.CEN case reports · 2025Article
- The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.Current issues in molecular biology · 2023Article
- Overexpression of the pro-protein convertase furin predicts prognosis and promotes papillary thyroid carcinoma progression and metastasis through RAF/MEK signaling.Molecular oncology · 2023Article
- Prospects of POLD1 in Human Cancers: A Review.Cancers · 2023Review
- Altered immunoexpression of DNA polymerase delta 1 catalytic subunit (POLD1) in colorectal cancer.Contemporary oncology (Poznan, Poland) · 2023Article
- Exome sequencing revealed comparable frequencies of RNF43 and BRAF mutations in Middle Eastern colorectal cancer.Scientific reports · 2022Article
- Cadherin-16 inhibits thyroid carcinoma cell proliferation and invasion.Oncology letters · 2022Article
- Review
- POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.Oncogene · 2021Review
- PD-L1 Expression Is an Independent Marker for Lymph Node Metastasis in Middle Eastern Endometrial Cancer.Diagnostics (Basel, Switzerland) · 2021Article
- POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.Endocrine connections · 2020Article
- Review
- POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.Molecular genetics & genomic medicine · 2020Article
- The prognostic implication of polymerase epsilon-mutated endometrial cancer.Tzu chi medical journalReview
- DNA Polymerase Delta 1 Catalytic Subunit (POLD1) as a Prognostic Factor in Clear Cell Renal Cell Carcinoma Patients.In vivo (Athens, Greece)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEndometrial carcinoma (EC) accounts for 5.8% of all cancers in Saudi females. Although most ECs are sporadic, 2-5% tend to be familial, being associated with Lynch syndrome and Cowden syndrome. In this study, we attempted to uncover the frequency, spectrum and phenotype of germline mutations in the proofreading domain of
methodsWe performed Capture sequencing and Sanger sequencing to screen for proofreading domains of
resultsIn our cohort, four mutations (0.93%) were identified in 432 EC cases, two each in
conclusionsOur study shows that germline mutations in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.