Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T367delFs
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BRCA1

NM_007294.4:p.T367delFs

Associated Papers

Immunohistochemical findings and clinicopathological features of breast cancers with pathogenic germline mutations in Non-BRCA genes.

Singh K et al.

Human Pathology, 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

Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations.

Gąsior-Perczak D et al.

Cancers, 2024

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

The impact of coding germline variants on contralateral breast cancer risk and survival.

Morra A et al.

American Journal of Human Genetics, 2023

36827971 (PubMed )
Supplement: mmc1.pdf

BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity.

Wu B et al.

Journal for Immunotherapy of Cancer, 2023

36731891 (PubMed )
Supplement: jitc-2022-005852supp005.pdf

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Borde J et al.

Bmc Cancer, 2022

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

Mavaddat N et al.

Jama Oncology, 2022

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

Fonfria M et al.

Journal of Personalized Medicine, 2021

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Dorling L et al.

The New England Journal of Medicine, 2021

Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.

Gąsior-Perczak D et al.

Cancers, 2021

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Yadav S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Prediction and clinical utility of a contralateral breast cancer risk model.

Giardiello D et al.

Breast Cancer Research : Bcr, 2019

31847907 (PubMed )
Supplement: 13058_2019_1221_MOESM1_ESM.xlsx › SupplementaryTable2

Molecular characteristics of breast cancer according to clinicopathological factors.

Huszno J et al.

Molecular and Clinical Oncology, 2019

Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.

Krivokuca A et al.

Journal of Human Genetics, 2019

Mixing Mutation Location With Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?

Pathania S et al.

Journal of the National Cancer Institute, 2018

Associations between mutations of the cell cycle checkpoint kinase 2 gene and gastric carcinogenesis.

Hong Y et al.

Molecular Medicine Reports, 2017

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.

Muranen TA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.

Lener MR et al.

Cancer Research and Treatment, 2017

27488870 (PubMed )
Supplement: crt-2016-217-supple.pdf

Current perspectives on CHEK2 mutations in breast cancer.

Apostolou P et al.

Breast Cancer (dove Medical Press), 2017

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Liu J et al.

Scientific Reports, 2016

27845421 (PubMed )
Supplement: srep36874-s1.pdf

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.

Muranen TA et al.

Breast Cancer Research : Bcr, 2016

27716369 (PubMed )
Supplement: 13058_2016_758_MOESM1_ESM.docx

Genomic Disparities in Breast Cancer Among Latinas.

Lynce F et al.

Cancer Control : Journal of the Moffitt Cancer Center, 2016

The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera.

Janiszewska H et al.

British Journal of Haematology, 2016

A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2014

Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele.

Suspitsin EN et al.

Medical Oncology (northwood, London, England), 2014

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

Cybulski C et al.

British Journal of Cancer, 2013

CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

Weischer M et al.

The Journal of Investigative Dermatology, 2012

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM et al.

Breast Cancer Research : Bcr, 2011

21356067 (PubMed )
Supplement: bcr2832-S1.PDF

Results based on 124 cases of breast cancer and 97 controls from Taiwan suggest that the single nucleotide polymorphism (SNP309) in the MDM2 gene promoter is associated with earlier onset and increased risk of breast cancer.

Sun YF et al.

Bmc Cancer, 2009

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Campeau PM et al.

Human Genetics, 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 functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW et al.

International Journal of Cancer, 2007

A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland.

Cybulski C et al.

Breast Cancer Research and Treatment, 2007

Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Górski B

Hereditary Cancer in Clinical Practice, 2006

Association between the CHEK2*1100delC germ line mutation and estrogen receptor status.

de Bock GH et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2006

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.

Varley J et al.

Breast Cancer Research : Bcr, 2003

[Analysis of K-ras, BRCA1/2, CHEK2 mutations and microsatellite markers (loss of heterozygosity at 9p, 17p and 18q) in sporadic pancreas adenocarcinomas].

Amosenko FA et al.

Molekuliarnaia Biologiia, 0

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