Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E904*
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BRCA1

NM_007294.4:p.E904*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.

Silverman IM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40705098 (PubMed )
Supplement: ccr-25-1248_supplementary_table_s2_suppts2.xlsx › Sheet_1

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_MOESM6_ESM.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

Correction to: In-Silico analyses of Nonsynonymous Variants in the BRCA1 Gene.

Arshad S et al.

Biochemical Genetics, 2022

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

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-s007.xlsx › CIMBA

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

Walker LC et al.

Plos Genetics, 2010

20174566 (PubMed )
Supplement: pgen.1000850.s013.doc

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N et al.

Plos Genetics, 2008

18497862 (PubMed )
Supplement: pgen.1000080.s002.xls › Sheet1
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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."