Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A4A
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CDKN2A

NM_000077.5:p.A4A

Associated Papers

Genomic Profile of Non-Small Cell Lung Cancer in a Spanish Cohort: A 2-Year Descriptive Study Using Next-Generation Sequencing.

Carnero-Gregorio M et al.

Genes, 2026

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

Molecular analysis of lung adenocarcinomas from the SAFIR02-Lung cohort reveals new metastasis-associated copy-number alterations including frequent mutant-specific KRAS-allelic imbalance and identifies CDKN2A homozygous deletions as an independent biomarker of poor prognosis.

Hamza A et al.

British Journal of Cancer, 2025

40931129 (PubMed )
Supplement: 41416_2025_3183_MOESM4_ESM.xlsx › S4B_Amino-acid_substitions

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-supp10.xlsx › Appendix_1-table_10

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-10.pdf

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.

Mondal K et al.

Cells, 2024

Activity of osimeRTInib in non-small-cell lung Cancer with UNcommon epidermal growth factor receptor mutations: retrospective Observational multicenter study (ARTICUNO).

Pizzutilo EG et al.

Esmo Open, 2024

38878323 (PubMed )
Supplement: mmc1.docx

Targeting KRAS in cancer.

Singhal A et al.

Nature Medicine, 2024

Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study.

Westphalen CB et al.

Esmo Open, 2023

37922692 (PubMed )
Supplement: mmc1.docx

Liquid biopsy detects genomic drivers in NSCLC without EGFR mutations by single-plex testing: WJOG13620L.

Uemura T et al.

Cancer Medicine, 2023

Impact of KRAS Mutations on Clinical Outcomes of Patients with Advanced Non-Squamous Non-Small Cell Lung Cancer Receiving Anti-PD-1/PD-L1 Therapy.

Veccia A et al.

Targeted Oncology, 2023

Molecular Biology and Therapeutic Perspectives for K-Ras Mutant Non-Small Cell Lung Cancers.

Cekani E et al.

Cancers, 2022

Potential genetic biomarker of Saudi Arabian patients with colorectal cancer.

Younis NS et al.

European Review for Medical and Pharmacological Sciences, 2022

KRAS Mutation in Rare Tumors: A Landscape Analysis of 3453 Chinese Patients.

Wang S et al.

Frontiers in Molecular Biosciences, 2022

Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death-Ligand 1 Blockade Responses.

Yoon JG et al.

Hepatology (baltimore, Md.), 2021

Genomic alterations and possible druggable mutations in carcinoma of unknown primary (CUP).

Es HA et al.

Scientific Reports, 2021

An overview of genetic mutations and epigenetic signatures in the course of pancreatic cancer progression.

Khan AA et al.

Cancer Metastasis Reviews, 2021

Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Chang YS et al.

Respiratory Research, 2021

KRAS G12C mutations in Asia: a landscape analysis of 11,951 Chinese tumor samples.

Loong HH et al.

Translational Lung Cancer Research, 2020

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

Impact of KRAS mutation subtype and concurrent pathogenic mutations on non-small cell lung cancer outcomes.

Aredo JV et al.

Lung Cancer (amsterdam, Netherlands), 2019

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Kaur P et al.

Scientific Reports, 2019

30728399 (PubMed )
Supplement: 41598_2018_37574_MOESM1_ESM.pdf

Surface microstructures are associated with mutational intratumoral heterogeneity in colorectal tumors.

Harada T et al.

Journal of Gastroenterology, 2018

Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Sikdar N et al.

Current Genomics, 2018

Genetic characterisation of molecular targets in carcinoma of unknown primary.

Clynick B et al.

Journal of Translational Medicine, 2018

Mutational Aberrations Detected in Mucinous Epithelial Ovarian Cancer of Asian Women.

Chay WY et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018

Cancer-Associated Mutations in Endometriosis without Cancer.

Anglesio MS et al.

The New England Journal of Medicine, 2017

K-Ras mutation detection in liquid biopsy and tumor tissue as prognostic biomarker in patients with pancreatic cancer: a systematic review with meta-analysis.

Li T et al.

Medical Oncology (northwood, London, England), 2016

KRAS Mutations in Mucinous Lesions of the Uterus.

He M et al.

American Journal of Clinical Pathology, 2015

KRAS and guanine nucleotide-binding protein mutations in pancreatic juice collected from the duodenum of patients at high risk for neoplasia undergoing endoscopic ultrasound.

Eshleman JR et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2015

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

25790293 (PubMed )
Supplement: ncomms7604-s6.xls › Sheet1

KRAS-G12C mutation is associated with poor outcome in surgically resected lung adenocarcinoma.

Nadal E et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014

Alterations of INPP4B, PIK3CA and pAkt of the PI3K pathway are associated with squamous cell carcinoma of the lung.

Stjernström A et al.

Cancer Medicine, 2014

Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers.

Spaans VM et al.

Plos One, 2014

[Kras oncogene and pancreatic cancer: thirty years after].

Bournet B et al.

Medecine Sciences : M/s, 2013

KRAS, BRAF genotyping reveals genetic heterogeneity of ovarian borderline tumors and associated implants.

Heublein S et al.

Bmc Cancer, 2013

Somatic mutations in exocrine pancreatic tumors: association with patient survival.

Rachakonda PS et al.

Plos One, 2013

Specific mutations in KRAS codons 12 and 13, and patient prognosis in 1075 BRAF wild-type colorectal cancers.

Imamura Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

High-throughput mutation profiling of primary and metastatic endometrial cancers identifies KRAS, FGFR2 and PIK3CA to be frequently mutated.

Krakstad C et al.

Plos One, 2012

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.

Andrews LJ et al.

Neuro-oncology Advances, 0

38130901 (PubMed )
Supplement: vdad145_suppl_supplementary_data.xlsx › Individual_data
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