Eva Machackova

Brno, JM, Czech Republic

Last Updated: 09/26/2026

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Found 45 publications

Polygenic risk score and its role in cancer susceptibility.

Polygenic risk score and its role in cancer susceptibility.

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: September 03, 2026

Reporting framework in the testing of predisposition to common adult solid tumors using next-generation sequencing.

Reporting framework in the testing of predisposition to common adult solid tumors using next-generation sequencing.

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: May 25, 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Journal: American journal of human genetics

Published: February 19, 2026

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Journal: Journal of medical genetics

Published: January 13, 2026

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.

Journal: Scientific reports

Published: December 26, 2024

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Journal: Scientific reports

Published: February 26, 2024

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Journal: Breast (Edinburgh, Scotland)

Published: February 21, 2024

A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.

A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.

Journal: Cancer medicine

Published: February 15, 2024

Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.

Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.

Journal: Cancer

Published: January 25, 2024

Genetic Predisposition to Male Breast Cancer.

Genetic Predisposition to Male Breast Cancer.

Journal: Folia biologica

Published: January 01, 2024

Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.

Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: December 29, 2023

Germline multigene panel testing of patients with endometrial cancer.

Germline multigene panel testing of patients with endometrial cancer.

Journal: Oncology letters

Published: November 22, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026