Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.P21A
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CHEK2

NM_007194.4:p.P21A

Associated Papers

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.

Złowocka-Perłowska E et al.

Hereditary Cancer in Clinical Practice, 2022

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2018

Dupuytren's disease and the risk of malignant neoplasms.

Zyluk A et al.

Hereditary Cancer in Clinical Practice, 2014

An inherited NBN mutation is associated with poor prognosis prostate cancer.

Cybulski C et al.

British Journal of Cancer, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

BRCA1 mutations and colorectal cancer in Poland.

Suchy J et al.

Familial Cancer, 2010

The contribution of founder mutations in BRCA1 to breast cancer in Belarus.

Uglanitsa N et al.

Clinical Genetics, 2010

Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.

Cybulski C et al.

Journal of Medical Genetics, 2009

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

Distelman-Menachem T et al.

Familial Cancer, 2009

Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.

Laitman Y et al.

The Israel Medical Association Journal : Imaj, 2007

Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.

Cybulski C

Hereditary Cancer in Clinical Practice, 2007

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

Nanda R et al.

Jama, 2005

Breast cancer predisposing alleles in Poland.

Górski B et al.

Breast Cancer Research and Treatment, 2005

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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."