Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R1495Splc
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BRCA1

NM_007294.4:p.R1495Splc

Associated Papers

Exploring breast cancer associated-gene panel for next-generation sequencing and identifying new, pathogenic variants in breast cancer from western China.

Cheng J et al.

Journal of Cancer, 2025

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

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-s005.xlsx › Chinese

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 › BRCA1

Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.

Ji G et al.

Journal of Cancer Research and Clinical Oncology, 2021

Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.

Li L et al.

Computational and Mathematical Methods in Medicine, 2021

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

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.

Peixoto A et al.

Frontiers in Oncology, 2020

Mutational analysis of BRCA1 and BRCA2 in northwest Chinese breast cancer patients.

Wang T et al.

Translational Cancer Research, 2019

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Zuntini R et al.

Frontiers in Genetics, 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."