Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K179R
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CHEK2

NM_007194.4:p.K179R

Associated Papers

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

Cancer, 2024

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › Other_genes

Small-scale mutations are infrequent as mechanisms of resistance in post-PARP inhibitor tumour samples in high grade serous ovarian cancer.

Burdett NL et al.

Scientific Reports, 2023

38072854 (PubMed )
Supplement: 41598_2023_48153_MOESM1_ESM.xlsx › Supplementary_table_3

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.

Mondschein R et al.

Cancers, 2022

35892882 (PubMed )
Supplement: cancers-14-03623-s001.zip › cancers-1805198-supplementary.pdf

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

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Rizzolo P et al.

Frontiers in Oncology, 2018

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

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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."