Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q210*
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BRCA1

NM_007294.4:p.Q210*

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

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

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Adedokun B et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.

Cho HG et al.

Jci Insight, 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

Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

Enyedi 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."