Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development

In this study, we determined if BRCA1 partners involved in DNA double-strand break (DSB) and mismatch repair (MMR) may contribute to breast and ovarian cancer development. Taking advantage the functional conservation of DNA repair pathways between yeast and human, we expressed several BRCA1 missense...

Full description

Bibliographic Details
Main Authors:	Luisa Maresca, Samuele Lodovichi, Alessandra Lorenzoni, Tiziana Cervelli, Rossella Monaco, Laura Spugnesi, Mariella Tancredi, Elisabetta Falaschi, Katia Zavaglia, Elisabetta Landucci, Manuela Roncella, Caterina Congregati, Angiolo Gadducci, Antonio Giuseppe Naccarato, Maria Adelaide Caligo, Alvaro Galli
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2018-09-01
Series:	Frontiers in Genetics
Subjects:	BRCA1 missense variants DNA repair genes yeast based-functional assay breast and ovarian cancer somatic variants
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2018.00397/full

Similar Items

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants
by: Francesca Bellè, et al.
Published: (2022-04-01)

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
by: Richard C. Caswell, et al.
Published: (2022-07-01)

DVA: predicting the functional impact of single nucleotide missense variants
by: Dong Wang, et al.
Published: (2024-03-01)

Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
by: Anam Nayab, et al.
Published: (2023-06-01)

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia
by: Joel A. Morales‐Rosado, et al.
Published: (2020-09-01)

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
by: Adam Colin Gunning, et al.
Published: (2023-12-01)

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
by: Yuyi Ying, et al.
Published: (2020-12-01)

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
by: Corinna Ernst, et al.
Published: (2018-03-01)

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
by: Zhiying Xie, et al.
Published: (2024-03-01)

Classic Galactosemia: Clinical and Computational Characterization of a Novel <i>GALT</i> Missense Variant (p.A303D) and a Literature Review
by: Giovanna Forte, et al.
Published: (2023-12-01)

Congenital cataract: An ocular manifestation of classical homocystinuria
by: Neelam Saba, et al.
Published: (2021-09-01)

Functional evaluation of a novel GLA causative mutation in Fabry disease
by: Ping Li, et al.
Published: (2019-09-01)

DiscoSnp-RAD: de novo detection of small variants for RAD-Seq population genomics
by: Jérémy Gauthier, et al.
Published: (2020-06-01)

Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease
by: Capucine Piat, et al.
Published: (2024-01-01)

<i>ABCG2</i> Polymorphisms and Predictive Fluoroquinolone Phototoxicity in Nondomestic Felids
by: Alexandria E. Gochenauer, et al.
Published: (2022-11-01)

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants ‘bad’?
by: Lucinda M Gruber, et al.
Published: (2023-04-01)

Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them?
by: Scott Rodney J, et al.
Published: (2005-08-01)

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
by: Hui Yu, et al.
Published: (2021-07-01)

[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in silico Predictors and Variant Annotation Databases
by: Marcus Michels, et al.

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance
by: Svetlana I. Tarnovskaya, et al.
Published: (2021-08-01)

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
by: Sinan Li, et al.
Published: (2023-09-01)

Variant effect predictions capture some aspects of deep mutational scanning experiments
by: Jonas Reeb, et al.
Published: (2020-03-01)

Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia
by: Sarah C. McCarley, et al.
Published: (2023-12-01)

Functional analysis of novel A20 variants in patients with atypical inflammatory diseases
by: Saori Kadowaki, et al.
Published: (2021-02-01)

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
by: Linya Ma, et al.
Published: (2021-10-01)

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
by: Muhammad Usman Rashid, et al.
Published: (2019-10-01)

Genome-wide diversity and admixture of five indigenous cattle populations from the Tigray region of northern Ethiopia
by: Tsadkan Zegeye, et al.
Published: (2023-07-01)

Association study of CREBRF missense variant (rs373863828:G > A; p.Arg457Gln) with levels of serum lipid profile in the Pacific populations
by: Jun Ohashi, et al.
Published: (2018-04-01)

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
by: Malene Djursby, et al.
Published: (2020-04-01)

Breast cancer risks associated with missense variants in breast cancer susceptibility genes
by: Leila Dorling, et al.
Published: (2022-05-01)

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
by: Sixian Wu, et al.
Published: (2022-06-01)

Understanding protein structural changes for oncogenic missense variants
by: Rolando Hernandez, et al.
Published: (2021-01-01)

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
by: Dennis Lal, et al.
Published: (2020-03-01)

SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models
by: Kobe Janssen, et al.
Published: (2023-07-01)

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
by: Qing Liu, et al.
Published: (2020-10-01)

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
by: Elena Álvarez de la Campa, et al.
Published: (2017-08-01)

The <i>BRCA1</i> c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times
by: Paolo Aretini, et al.
Published: (2023-10-01)

The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia
by: Jiaqi Dai, et al.
Published: (2022-06-01)

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
by: Khalid Al Hawsawi, et al.
Published: (2022-08-01)

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
by: Giulio Poli, et al.
Published: (2022-12-01)