Commonalities and differences in the mutational signature and somatic driver mutation landscape across solid and hollow viscus organs
Advances in sequencing have revealed a highly variegated landscape of mutational
signatures and somatic driver mutations in a range of normal tissues. Normal tissues …
signatures and somatic driver mutations in a range of normal tissues. Normal tissues …
Extracellular nucleic acids in the diagnosis and progression of colorectal cancer
Simple Summary Colorectal cancer (CRC) is a disease that usually shows no evident
clinical symptoms in the early stages, often leading to late diagnosis. Over the past few …
clinical symptoms in the early stages, often leading to late diagnosis. Over the past few …
Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer …
U Disel, S Sivakumar, T Pham, Z Fleischmann… - The …, 2024 - academic.oup.com
The aim of this study was to determine the pan-cancer landscape of MUTYH alterations and
the relationship between MUTYH mutations and potentially actionable biomarkers such as …
the relationship between MUTYH mutations and potentially actionable biomarkers such as …
[HTML][HTML] MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview
L Sanchez-Mete, L Mosciatti, M Casadio… - World Journal of …, 2023 - ncbi.nlm.nih.gov
BACKGROUND The presence of Spigelman stage (SS) IV duodenal polyposis is considered
the most significant risk factor for duodenal cancer in patients with MUTYH-associated …
the most significant risk factor for duodenal cancer in patients with MUTYH-associated …
[HTML][HTML] Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma
H Feng, S Cao, Q Ouyang, H Li, X Li… - Translational …, 2023 - ncbi.nlm.nih.gov
Background Germline pathogenic variants are estimated to affect 3–5% of patients with
renal cell carcinoma (RCC). The identification of patients with hereditary RCC is important …
renal cell carcinoma (RCC). The identification of patients with hereditary RCC is important …
Genotype–Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis
LH Zhu, J Dong, WL Li, ZY Kou, J Yang - Digestive Diseases and …, 2023 - Springer
The most prevalent type of intestinal polyposis, colorectal adenomatous polyposis (CAP), is
regarded as a precancerous lesion of colorectal cancer with obvious genetic characteristics …
regarded as a precancerous lesion of colorectal cancer with obvious genetic characteristics …
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer
ZG Ouedraogo, F Ceruti, M Lepage, M Gay-Bellile… - Genes, 2023 - mdpi.com
Hereditary predisposition to cancer affects about 3–5% of renal cancers. Testing criteria
have been proposed in France for genetic testing of non-syndromic renal cancer. Our study …
have been proposed in France for genetic testing of non-syndromic renal cancer. Our study …
[HTML][HTML] Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival
EJ Saunders, T Dadaev, MN Brook, S Wakerell… - European urology …, 2024 - Elsevier
Abstract Background Prostate cancer (PrCa) is a substantial cause of mortality among men
globally. Rare germline mutations in BRCA2 have been validated robustly as increasing risk …
globally. Rare germline mutations in BRCA2 have been validated robustly as increasing risk …
[HTML][HTML] MUTYH is a potential prognostic biomarker and correlates with immune infiltrates in hepatocellular carcinoma
F Yang, Q Lian, B Ni, X Qiu, Y He, X Zou, F He, W Chen - Liver Research, 2022 - Elsevier
Background Hepatocellular carcinoma (HCC) is a leading cause of cancer-related death
worldwide. The development of biomarkers for early detection and monitoring of HCC has …
worldwide. The development of biomarkers for early detection and monitoring of HCC has …
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
Abstract MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline
variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH …
variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH …