Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N588fs
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BRCA2

NM_000059.4:p.N588fs

Associated Papers

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

The prognostic and predictive value of homologous recombination deficiency status in patients with advanced stage epithelial ovarian carcinoma after first-line platinum-based chemotherapy.

Xu Y et al.

Frontiers in Oncology, 2024

Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.

Subaşıoğlu A et al.

European Journal of Breast Health, 2023

RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

Liu P et al.

The Journal of Biological Chemistry, 2022

35952757 (PubMed )
Supplement: mmc3.xls › BRCA2

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

Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2.

Narváez D et al.

Ecancermedicalscience, 2022

Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Huang CC et al.

Bmc Cancer, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM4_ESM.xlsx › Sheet1

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 › ARUP

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.

Torres D et al.

Scientific Reports, 2017

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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."