Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q34delFs
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CHEK2

NM_007194.4:p.Q34delFs

Associated Papers

Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.

Fedorov K et al.

Current Hematologic Malignancy Reports, 2025

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

Morra A et al.

Cancer Medicine, 2023

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

Morra A et al.

Research Square, 2023

CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors.

Švajdler P et al.

Cancers, 2022

Genetic predisposition to male breast cancer in Poland.

Szwiec M et al.

Bmc Cancer, 2021

Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.

Malhotra H et al.

Jco Global Oncology, 2020

Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.

Carter HB et al.

European Urology, 2019

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.

Berger G et al.

British Journal of Haematology, 2019

Hereditary breast cancer syndromes and genetic testing.

Rich TA et al.

Journal of Surgical Oncology, 2015

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation.

Choi DH et al.

Breast Cancer Research and Treatment, 2008

Association of common PALB2 polymorphisms with breast cancer risk: a case-control study.

Chen P et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer.

Wasielewski M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.

Libé R et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

Anczuków O et al.

Human Mutation, 2008

Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers.

Williams LH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes.

Naseem H et al.

Clinical Genetics, 2006

CHEK2-positive breast cancers in young Polish women.

Cybulski C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

Breast cancer screening, outside the population-screening program, of women from breast cancer families without proven BRCA1/BRCA2 mutations: a simulation study.

Jacobi CE et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.

Caligo MA et al.

Human Mutation, 2004

Limited relevance of the CHEK2 gene in hereditary breast cancer.

Dufault MR et al.

International Journal of Cancer, 2004

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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."