Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1447fs
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BRCA1

NM_007294.4:p.Q1447fs

Associated Papers

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.

Shirota H et al.

Cancer Medicine, 2025

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

PARPis response and outcome of ovarian cancer patients with BRCA1/2 germline mutation and a history of breast cancer.

Yuan H et al.

Journal of Gynecologic Oncology, 2024

38246184 (PubMed )
Supplement: jgo-35-e51-s001.xls › jgo-35-e51-i003

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer.

Kim SH et al.

Breast Cancer Research and Treatment, 2020

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Arai_et_al.

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

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Sunami K et al.

Cancer Science, 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

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
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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."