Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L16fs
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CDKN2A

NM_000077.5:p.L16fs

Associated Papers

Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.

Inoue M et al.

Surgical Case Reports, 2024

Chemotherapy-free treatment targeting fusions and driver mutations in KRAS wild-type pancreatic ductal adenocarcinoma, a case series.

Mehdi M et al.

Therapeutic Advances in Medical Oncology, 2024

The molecular tumor board as a step in cancer patient management: a southern Italian experience.

Tommasi S et al.

Frontiers in Medicine, 2024

39323465 (PubMed )
Supplement: Table_1.xlsx › Foglio1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › CDKN2A

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

33350171 (PubMed )
Supplement: CAM4-10-933-s001.xlsx › SNV

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

33747920 (PubMed )
Supplement: DataSheet_2.xlsx › Table_S5

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Conroy JM et al.

Plos One, 2021

34855780 (PubMed )
Supplement: pone.0260089.s001.xlsx › ST12

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.

Lin JC et al.

Journal of Clinical Medicine, 2020

33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S2-Organoid-response.xlsx › ___1

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."