Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q126*
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BRCA1

NM_007294.4:p.Q126*

Associated Papers

Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe.

Pachuau L et al.

Breast Cancer Research and Treatment, 2025

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM9_ESM.xlsx › variant-CBE_library_annotation

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Efficacy of platinum in advanced triple-negative breast cancer with germline BRCA mutation determined by next generation sequencing.

Wang N et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Comprehensive genomic profiling of high-grade serous ovarian carcinoma from Chinese patients identifies co-occurring mutations in the Ras/Raf pathway with TP53.

Zhong F et al.

Cancer Medicine, 2019

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Yurgelun MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Liang Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

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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."