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List of works by Eva Macháčková

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

scientific article

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children

scientific article

Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing

scientific article published on 13 January 2019

GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies

scientific article published on 01 January 2019

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

scientific article

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

scientific article

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

scientific article published on 20 May 2019

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

scientific article published on 13 April 2020

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

scientific article published on 20 May 2008

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development

scientific article published on 27 April 2010

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

scientific article

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants

scientific article published on 01 January 2019

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

scientific article published on 12 April 2018

Hereditární nádorová onemocnění v klinické praxi

book edition published in 2022

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