Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.M1_S8ins2
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CDKN2A

NM_000077.5:p.M1_S8ins2

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S1-Clinical_Information

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.

Bodnar S et al.

Seminars in Hematology, 2025

Germline cancer-related mutations detected by routine targeted NGS for tumour analysis: A series of 357 melanoma patients.

Garcia-Casado Z et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Lincoln SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM1_ESM.pdf

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Lincoln SE et al.

Jama Network Open, 2020

33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf

Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer.

Boyle JL et al.

Jco Precision Oncology, 2020

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Watson CM et al.

Molecular Diagnosis & Therapy, 2017

Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.

Chan SH et al.

Npj Genomic Medicine, 2016

29263814 (PubMed )
Supplement: npjgenmed201615-s1.doc
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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."