Varaico: Literature-Extracted Genetic Variants

Gene:RAD52
Variant:p.S346*
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RAD52

NM_134424.4:p.S346*

Associated Papers

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.

Dwornik R et al.

Hereditary Cancer in Clinical Practice, 2025

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Oligogenic basis of premature ovarian insufficiency: an observational study.

Long P et al.

Journal of Ovarian Research, 2024

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.

Setton J et al.

Nature, 2023

37587346 (PubMed )
Supplement: 41586_2023_6461_MOESM10_ESM.xlsx › EDF4B_ONCOTABLE

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

Kumpula TA et al.

Plos Genetics, 2023

Selective Killing of BRCA2-Deficient Ovarian Cancer Cells via MRE11 Blockade.

Alblihy A et al.

International Journal of Molecular Sciences, 2023

A moving target for drug discovery: Structure activity relationship and many genome (de)stabilizing functions of the RAD52 protein.

Bhat DS et al.

Dna Repair, 2022

BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.

Boussios S et al.

Cancers, 2022

Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.

Hamid AB et al.

Plos One, 2022

Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?

Chang TY et al.

Diagnostics (basel, Switzerland), 2021

Single-Strand Annealing in Cancer.

Blasiak J

International Journal of Molecular Sciences, 2021

RAD52: Paradigm of Synthetic Lethality and New Developments.

Rossi MJ et al.

Frontiers in Genetics, 2021

The function of RAD52 N-terminal domain is essential for viability of BRCA-deficient cells.

Hanamshet K et al.

Nucleic Acids Research, 2020

Variants of the human RAD52 gene confer defects in ionizing radiation resistance and homologous recombination repair in budding yeast.

Clear AD et al.

Microbial Cell (graz, Austria), 2020

The RAD52 S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.

Adamson AW et al.

Molecular Oncology, 2020

RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers.

Biswas K et al.

Molecular Oncology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

Luo W et al.

International Journal of Cancer, 2018

A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Sun JX et al.

Plos Computational Biology, 2018

29415044 (PubMed )
Supplement: pcbi.1005965.s006.pdf

Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.

Zhao Q et al.

Journal of Gynecologic Oncology, 2017

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Stafford JL et al.

Plos One, 2017

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1

Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.

Rajkumar T et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Mutational landscape of candidate genes in familial prostate cancer.

Johnson AM et al.

The Prostate, 2014

Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia.

Sellick G et al.

Leukemia & Lymphoma, 2008

Genetic susceptibility to tobacco-related cancer.

Wu X et al.

Oncogene, 2004

Common nonsense mutations in RAD52.

Bell DW et al.

Cancer Research, 1999

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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."