Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q858*
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BRCA1

NM_007294.4:p.Q858*

Associated Papers

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Ekram SN et al.

Discover Oncology, 2025

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › TJMUCH_n_118_

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

Zhou N et al.

Journal of Translational Medicine, 2025

Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

38900059 (PubMed )
Supplement: ADVS-11-2309817-s002.xlsx › Table_S5

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

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Outcomes and the effect of PGT-M in women with hormone-related hereditary tumor syndrome.

Wang D et al.

Frontiers in Oncology, 2024

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Nacer DF et al.

Genome Medicine, 2023

37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7

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

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.

Huang Y et al.

Journal of Personalized Medicine, 2022

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

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

Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Agha N et al.

Bmc Cancer, 2022

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.

Rivera D et al.

Journal of Clinical Pathology, 2021

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.

Dong H et al.

Journal of Medical Genetics, 2021

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Olaparib Treatment in a Patient with Advanced Gallbladder Cancer Harboring BRCA1 Mutation.

Li X et al.

Oncotargets and Therapy, 2021

Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.

Li J et al.

Frontiers in Oncology, 2021

Phase I dose-escalation and expansion study of PARP inhibitor, fluzoparib (SHR3162), in patients with advanced solid tumors.

Li H et al.

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

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.

Huang X et al.

Frontiers in Oncology, 2020

Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.

Wang L et al.

Artificial Cells, Nanomedicine, and Biotechnology, 2019

Precision oncology for gallbladder cancer: insights from genetic alterations and clinical practice.

Lin J et al.

Annals of Translational Medicine, 2019

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

Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.

Wang X et al.

Molecular Genetics & Genomic Medicine, 2019

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J et al.

Cancer Medicine, 2019

30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.

Li JY et al.

International Journal of Cancer, 2019

Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Wei H et al.

Oncology Letters, 2018

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

Lang GT et al.

International Journal of Cancer, 2017

Response of BRCA1-mutated gallbladder cancer to olaparib: A case report.

Xie Y et al.

World Journal of Gastroenterology, 2016

Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.

Zhang J et al.

Breast Cancer Research and Treatment, 2016

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

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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."