Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V233fs
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BRCA1

NM_007294.4:p.V233fs

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_6

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.

Stubbins RJ et al.

Haematologica, 2024

37139596 (PubMed )
Supplement: 2022_281580_STUBBINS_SUPPL.pdf

The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.

Mandelker D et al.

Jnci Cancer Spectrum, 2019

31360903 (PubMed )
Supplement: supplementary_data_pkz027.pdf

Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.

You YN et al.

Diseases of the Colon and Rectum, 2019

Comparative oncogenomics identifies combinations of driver genes and drug targets in BRCA1-mutated breast cancer.

Annunziato S et al.

Nature Communications, 2019

30674894 (PubMed )
Supplement: 41467_2019_8301_MOESM1_ESM.pdf

Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.

Walsh MF et al.

Cold Spring Harbor Molecular Case Studies, 2017

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_20.Germline.Analysis.11052015.v2.xlsx › Sheet1

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW et al.

Jama Oncology, 2016

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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."