Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.N470S
Back to variants list

BARD1

NM_000465.4:p.N470S

Associated Papers

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information

The role of ankyrin repeat-containing proteins in epigenetic and transcriptional regulation.

Wu M et al.

Cell Death Discovery, 2025

Structural dynamics of clinically-reported VUS in the BARD1 ARD-BRCT region to predict the molecular basis of alterations.

Barua SA et al.

Journal of Biomolecular Structure & Dynamics, 2024

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Madariaga A et al.

Nature Communications, 2023

36922497 (PubMed )
Supplement: 41467_2023_37084_MOESM1_ESM.pdf

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

Pérez-Ibave DC et al.

Genes, 2023

36833268 (PubMed )
Supplement: genes-14-00341-s001.zip › Table_S1.xlsx › Hoja1

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Möhrmann L et al.

Nature Communications, 2022

35918329 (PubMed )
Supplement: 41467_2022_31866_MOESM7_ESM.xlsx › 4.1_germline_variants

Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Arslan Ates E et al.

Medeniyet Medical Journal, 2022

BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression enhance sensitivity to DNA damage in Ewing sarcoma.

Maurer LM et al.

Cancer Research Communications, 2022

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

Nakamura K et al.

Nature Cell Biology, 2019

30804502 (PubMed )
Supplement: NIHMS81307-supplement-Supplementary_Table_2.xlsx › Sup_Fig.4c

H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex.

Saredi G et al.

Nature, 2016

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

New concepts on BARD1: Regulator of BRCA pathways and beyond.

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2016

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Alshatwi AA et al.

Plos One, 2012

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

De Brakeleer S et al.

Human Mutation, 2010

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

Rebbeck TR et al.

Cancer Research, 2009

Crystal structure of the BARD1 ankyrin repeat domain and its functional consequences.

Fox D et al.

The Journal of Biological Chemistry, 2008

Is there more to BARD1 than BRCA1?

Irminger-Finger I et al.

Nature Reviews. Cancer, 2006

Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.

Karppinen SM et al.

Journal of Medical Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."