Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C24fs
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BRCA1

NM_007294.4:p.C24fs

Associated Papers

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S11

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

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

Single-cell genomic variation induced by mutational processes in cancer.

Funnell T et al.

Nature, 2022

36289342 (PubMed )
Supplement: 41586_2022_5249_MOESM5_ESM.xlsx › 184hTERT_mutations

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Cell-type-specific epigenomic variations associated with BRCA1 mutation in pre-cancer human breast tissues.

Hsieh YP et al.

Nar Genomics and Bioinformatics, 2022

35118379 (PubMed )
Supplement: lqac006_supplemental_files.zip › Supplementary_Figures_and_Tables_12-12_final.pdf

Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.

Gallardo-Rincón D et al.

Frontiers in Genetics, 2022

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.

Golubeva VA et al.

Cancers, 2019

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

Chong HK et al.

Plos One, 2014

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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."