Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R466G
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BRCA1

NM_007294.4:p.R466G

Associated Papers

Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.

Ammous-Boukhris N et al.

Bmc Cancer, 2025

Stronger preference of human tumor suppressor protein BRCA1 for an open-planar Holliday junction: Insights from a combined spectroscopic and computational study.

Kabir SH et al.

International Journal of Biological Macromolecules, 2025

Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.

Al Ali AAAA et al.

Journal of Cancer Research and Clinical Oncology, 2025

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Rawashdeh RR et al.

Jco Global Oncology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM3_ESM.xlsx › Sheet1

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

AlHarbi M et al.

Oncotarget, 2023

37306523 (PubMed )
Supplement: oncotarget-14-28457-s002.xlsx › Table_S3

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_TableS1.xlsx › Sheet3

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_1.xlsx › Sheet1

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

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-s006.xlsx › Total_BRCA1___BRCA2

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Abulkhair O et al.

Journal of Global Oncology, 2018

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A et al.

Gynecologic Oncology, 2012

Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

Burk-Herrick A et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2006

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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."