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Article: Diagnosis of thanatophoric dysplasia using clinical exome screening.

Holub, Michal / Sekowská, Martina / Smetanová, Dagmar / Koudová, Monika / Sobolová, Kateřina / Šinská, Alexandra / Heřman, Hynek

Ceska gynekologie

2023 Volume 88, Issue 5, Page(s) 376–379

Abstract: Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd ... ...

Title translation	Diagnostika thanatoforické dysplazie pomocí vyšetření klinického exomu.
Abstract	Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.
MeSH term(s)	Pregnancy ; Female ; Humans ; Thanatophoric Dysplasia/diagnosis ; Thanatophoric Dysplasia/genetics ; Exome ; Pregnancy Trimester, Second ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Ultrasonography, Prenatal
Chemical Substances	Receptor, Fibroblast Growth Factor, Type 3 (EC 2.7.10.1)
Language	English
Publishing date	2023-11-06
Publishing country	Czech Republic
Document type	Journal Article
ZDB-ID	1187094-1
ISSN	1805-4455 ; 1210-7832 ; 0374-6852
ISSN (online)	1805-4455
ISSN	1210-7832 ; 0374-6852
DOI	10.48095/cccg2023376
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Article ; Online: Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.

Koudová, Monika / Puchmajerová, Alena

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

2019 Volume 32, Issue Supplementum2, Page(s) 14–23

Abstract: Expanded gene panel testing for hereditary cancer predispositions using massive parallel sequencing can identify heterozygous pathogenic variants of genes that cause autosomal recessive inherited cancer syndromes. There are no clinical guidelines ... ...

Title translation	Rizika solidních nádorů u heterozygotních přenašečů recesivních syndromů.
Abstract	Expanded gene panel testing for hereditary cancer predispositions using massive parallel sequencing can identify heterozygous pathogenic variants of genes that cause autosomal recessive inherited cancer syndromes. There are no clinical guidelines regarding assessment of the risk of developing solid tumors or for developing appropriate surveillance strategies for heterozygotes for most of these genes, nor is there delineation with respect to the management for genetic testing of relatives and partners. Based on current knowledge, our aim was to create “Czech guidelines” for these cases. Here, we present an overview of the selected genes for autosomal recessive inherited tumor syndromes. The genes were divided into two groups: genes causing Fanconi anemia and genes causing other autosomal recessive inherited tumor syndromes. A summary table was created for each group. The table shows the population frequency of heterozygotes, the cancer risk for heterozygotes, the proposed surveillance strategy, and recommendations for family prediction and genetic testing of partners. Predictive testing should be performed in the case of heterozygotes that have an increased risk of cancer and/or as prerequisite to further reproduction of heterozygotes for a given gene with significant population frequency (this allows an estimation of the risk of autosomal recessive syndrome for children of heterozygote for mutation). These suggestions and recommendations are based on current knowledge and would need to be further corrected in the future based on increasing knowledge of existing or as-yet-unidentified genes. The authors thank to all the staff of the Molecular Genetic Laboratory of the GENNET Medical Genetics and Reproductive Medicine Center for their cooperation. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 21. 3. 2019 Accepted: 2. 5. 2019.
MeSH term(s)	Fanconi Anemia/genetics ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Neoplastic Syndromes, Hereditary/genetics ; Practice Guidelines as Topic ; Risk Factors
Language	English
Publishing date	2019-08-12
Publishing country	Czech Republic
Document type	Journal Article ; Review
ZDB-ID	1217739-8
ISSN	1802-5307 ; 0862-495X
ISSN (online)	1802-5307
ISSN	0862-495X
DOI	10.14735/amko2019S14
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Article: Stepwise molecular-genetic examination in aborted fetuses.

Trková, Marie / Prokopcová, Lenka / Bakardjieva-Mihaylova, Violeta / Němec, Michael / Borgulová, Irena / Vilímová, Zuzana / Dohnalová, Lucie / Bečvářová, Věra / Bittóová, Martina / Horáček, Jiří / Stejskal, David / Koudová, Monika

Ceska gynekologie

2022 Volume 87, Issue 2, Page(s) 104–110

Abstract: Objective: The evaluation of quantitative fluorescence PCR (QF-PCR) and single nucleotide polymorphism array (SNP array) analysis for the identification of chromosomal abnormalities in products of conception (POC).: Materials and methods: A total of ... ...

Title translation	Kaskádové molekulárně genetické vyšetření u potracených plodů.
Abstract	Objective: The evaluation of quantitative fluorescence PCR (QF-PCR) and single nucleotide polymorphism array (SNP array) analysis for the identification of chromosomal abnormalities in products of conception (POC). Materials and methods: A total of 1,094 POC samples were processed at Gennet in the years 2018-2020. Chromosomal aneuploidies were tested by QF-PCR using a Omnibor set (STR markers 13, 18, 21, X a Y), SAB-I set (STR markers 2, 7, 15, 16, 22), SAB-II set (from November 2019, STR markers 4, 6, 14) followed by SNP array analysis (Illumina) on samples with a negative QF-PCR result. All POC samples were tested for maternal contamination. Results: After exclusion of maternal contamination (32% samples) the total number of 742 POC samples were tested by QF-PCR. Chromosomal aneuploidies were found in 273 POC samples (36.8%). Then, 469 QF-PCR negative POC samples were tested by SNP array analysis. Normal female/male profile was confirmed in 402 samples (85.7%) and chromosomal aneuploidies and chromosomal aberrations (deletion/duplication > 10 Mb) in 51 samples (10.9%). Microdeletion/microduplication was found in 16 POC samples (3.4%), two were classified as pathogenic variants and 14 as variants of unknown significance. In a group of women > 35 years of age, statistically significant increase of the chromosomal abnormalities was confirmed. No statistically significant difference between the in vitro fertilization group and the group of spontaneous conception was found. Conclusion: The application of the molecular work-up based on the stepwise use of QF-PCR and SNP array clarifies the cause of the abortion in 43% POC samples. The overall detection rate in the I. trimester was 50.4%.
MeSH term(s)	Aborted Fetus ; Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; Male ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis
Language	English
Publishing date	2022-05-20
Publishing country	Czech Republic
Document type	Journal Article
ZDB-ID	1187094-1
ISSN	1805-4455 ; 1210-7832 ; 0374-6852
ISSN (online)	1805-4455
ISSN	1210-7832 ; 0374-6852
DOI	10.48095/cccg2022104
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Article ; Online: A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Zemankova, Petra / Cerna, Marta / Horackova, Klara / Ernst, Corinna / Soukupova, Jana / Borecka, Marianna / Blümcke, Britta / Cerna, Leona / Cerna, Monika / Curtisova, Vaclava / Dolezalova, Tatana / Duskova, Petra / Dvorakova, Lenka / Foretova, Lenka / Havranek, Ondrej / Hauke, Jan / Hahnen, Eric / Hodulova, Miloslava / Hovhannisyan, Milena /

Hruskova, Lucie / Janatova, Marketa / Janikova, Maria / Jelinkova, Sandra / Just, Pavel / Kosarova, Marcela / Koudova, Monika / Krutilkova, Vera / Machackova, Eva / Matejkova, Katerina / Michalovska, Renata / Misove, Adela / Nehasil, Petr / Nemcova, Barbora / Novotny, Jan / Panczak, Ales / Pesek, Pavel / Scheinost, Ondrej / Springer, Drahomira / Stastna, Barbora / Stranecky, Viktor / Subrt, Ivan / Tavandzis, Spiros / Tureckova, Eva / Vesela, Kamila / Vlckova, Zdenka / Vocka, Michal / Wappenschmidt, Barbara / Zima, Tomas / Kleibl, Zdenek / Kleiblova, Petra

Breast (Edinburgh, Scotland)

2024 Volume 75, Page(s) 103721

Abstract: Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature ... ...

Abstract	Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors. Based on these observations, we classified this variant as likely pathogenic.
Language	English
Publishing date	2024-03-25
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1143210-x
ISSN	1532-3080 ; 0960-9776
ISSN (online)	1532-3080
ISSN	0960-9776
DOI	10.1016/j.breast.2024.103721
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Article ; Online: Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.

Soukupová, Jana / Lhotová, Klára / Zemánková, Petra / Vočka, Michal / Janatová, Markéta / Stolařová, Lenka / Borecká, Marianna / Kleiblová, Petra / Macháčková, Eva / Foretová, Lenka / Koudová, Monika / Lhota, Filip / Tavandzis, Spiros / Zikán, Michal / Stránecký, Viktor / Veselá, Kamila / Panczak, Aleš / Kotlas, Jaroslav / Kleibl, Zdeněk

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

2019 Volume 32, Issue Supplementum2, Page(s) 72–78

Abstract: Background: Ovarian cancer is a disease with high mortality. Approximately 1,000 women are diagnosed with ovarian cancer in the Czech Republic annually. Women harboring a mutation in cancer-predisposing genes face an increased risk of tumor development. ...

Title translation	Přínos masivního paralelního sekvenování pro diagnostiku dědičných forem nádorů ovaria v České republice.
Abstract	Background: Ovarian cancer is a disease with high mortality. Approximately 1,000 women are diagnosed with ovarian cancer in the Czech Republic annually. Women harboring a mutation in cancer-predisposing genes face an increased risk of tumor development. Mutations in BRCA1, BRCA2, BRIP1, and Lynch syndrome genes (RAD51C, RAD51D, and STK11) are associated with a high risk of ovarian cancer, and mutations in ATM, CHEK2, NBN, PALB2, and BARD1 appear to increase the risk. Our aim was to examine the frequency of mutations in cancer-predisposing genes in the Czech Republic. Materials and methods: We analyzed 1,057 individuals including ovarian cancer patients and 617 non-cancer controls using CZECANCA panel next-generation sequencing on the Illumina platform. Pathogenic mutations in high-risk genes, including CNVs, were detected in 30.6% of patients. The mutation frequency reached 25.0% and 18.2% in subgroups of unselected ovarian cancer patients and patients with a negative family cancer history, respectively. The most frequently mutated genes were BRCA1 and BRCA2. The overall frequency of mutations in non-BRCA genes was comparable to that in BRCA2. The mutation frequency in ovarian cancer patients aged >70 years was three times higher than that in patients diagnosed before the age of 30. Conclusion: Ovarian cancer is a heterogeneous disease with a high proportion of hereditary cases. The lack of efficient screening for early diagnosis emphasizes the importance of identifying carriers of mutations in ovarian cancer-predisposing genes; this is because proper follow-up and prevention strategies can reduce overall ovarian cancer-related mortality. This work was supported by grants AZV 15-27695A, SVV2019/260367, PROGRES Q28/LF1. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 7. 3. 2019 Accepted: 24. 4. 2019.
MeSH term(s)	BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Czech Republic ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Ovarian Neoplasms/genetics
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2019-08-12
Publishing country	Czech Republic
Document type	Journal Article
ZDB-ID	1217739-8
ISSN	1802-5307 ; 0862-495X
ISSN (online)	1802-5307
ISSN	0862-495X
DOI	10.14735/amko2019S72
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Article ; Online: Germline multigene panel testing of patients with endometrial cancer.

Kral, Jan / Jelinkova, Sandra / Zemankova, Petra / Vocka, Michal / Borecka, Marianna / Cerna, Leona / Cerna, Marta / Dostalek, Lukas / Duskova, Petra / Foretova, Lenka / Havranek, Ondrej / Horackova, Klara / Hovhannisyan, Milena / Chvojka, Stepan / Kalousova, Marta / Kosarova, Marcela / Koudova, Monika / Krutilkova, Vera / Machackova, Eva /

Nehasil, Petr / Novotny, Jan / Otahalova, Barbora / Puchmajerova, Alena / Safarikova, Marketa / Slama, Jiri / Stranecky, Viktor / Subrt, Ivan / Tavandzis, Spiros / Zikan, Michal / Zima, Tomas / Soukupova, Jana / Kleiblova, Petra / Kleibl, Zdenek / Janatova, Marketa

Oncology letters

2023 Volume 25, Issue 6, Page(s) 216

Abstract: Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, ... ...

Abstract	Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes. Gene-level risks were calculated using 1,662 population-matched controls (PMCs). Patients were sub-categorized to fulfill GGT criteria for LS, HBOC, both or none. A total of 60 patients (11.4%) carried PV in LS (5.1%) and HBOC (6.6%) predisposition genes, including two carriers of double PV. PV in LS genes conferred a significantly higher EC risk [odds ratio (OR), 22.4; 95% CI, 7.8-64.3; P=1.8×10
Language	English
Publishing date	2023-04-12
Publishing country	Greece
Document type	Journal Article
ZDB-ID	2573196-8
ISSN	1792-1082 ; 1792-1074
ISSN (online)	1792-1082
ISSN	1792-1074
DOI	10.3892/ol.2023.13802
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Article ; Online: Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.

Hancarova, Miroslava / Simandlova, Martina / Drabova, Jana / Petrak, Borivoj / Koudova, Monika / Havlovicova, Marketa / Sedlacek, Zdenek

European journal of medical genetics

2013 Volume 56, Issue 3, Page(s) 171–173

MeSH term(s)	Abnormalities, Multiple/diagnosis ; Arthrogryposis/diagnosis ; Chromosome Deletion ; Chromosomes, Human, Pair 12/genetics ; Female ; Humans ; Intellectual Disability/diagnosis
Language	English
Publishing date	2013-03
Publishing country	Netherlands
Document type	Comment ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2012.12.003
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Article ; Online: Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Koudova, Monika / Seemanova, Eva / Zenker, Martin

European journal of medical genetics

2009 Volume 52, Issue 5, Page(s) 337–340

Abstract: Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade. There are strong genotype-phenotype correlations. BRAF is the major gene for cardio-facio-cutaneous ... ...

Abstract	Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade. There are strong genotype-phenotype correlations. BRAF is the major gene for cardio-facio-cutaneous syndrome (CFCS), and usually patients with a BRAF mutation have significant cognitive impairment. We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. The mutation p.L245F was demonstrated to be de novo with no evidence of somatic mosaicism. This observation illustrates that the phenotypic spectrum caused by BRAF mutations is broader than previously assumed and that mental retardation is not necessarily associated. We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS.
MeSH term(s)	Abnormalities, Multiple/genetics ; Adolescent ; Amino Acid Sequence ; Amino Acid Substitution ; Conserved Sequence ; DNA/genetics ; DNA/isolation & purification ; DNA Mutational Analysis ; Facies ; Heart Defects, Congenital/genetics ; Humans ; LEOPARD Syndrome/genetics ; Leucine/metabolism ; Male ; Molecular Sequence Data ; Mutation ; Noonan Syndrome/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Sequence Homology, Amino Acid
Chemical Substances	DNA (9007-49-2) ; BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Leucine (GMW67QNF9C)
Language	English
Publishing date	2009-09
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2009.04.006
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Article: Monozygotic twins with 17q21.31 microdeletion syndrome.

Vlckova, Marketa / Hancarova, Miroslava / Drabova, Jana / Slamova, Zuzana / Koudova, Monika / Alanova, Renata / Mannik, Katrin / Kurg, Ants / Sedlacek, Zdenek

Twin research and human genetics : the official journal of the International Society for Twin Studies

2014 Volume 17, Issue 5, Page(s) 405–410

Abstract: Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype ... ...

Abstract	Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but in neither of their parents. Potential copy number differences between the genomes of the twins were subsequently searched using high-resolution single nucleotide polymorphism (SNP) and comparative genome hybridisation (CGH) arrays. However, these analyses identified no additional aberrations or genomic differences that could potentially be responsible for the subtle phenotypic differences. These could possibly be related to the more severe perinatal history of Twin B, or to the variable expressivity of the disorder. In accord with the expectations, one of the parents (the mother) was shown to carry the H2 haplotype, and the maternal allele of chromosome 17q21.31 was missing in the twins.
MeSH term(s)	Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Female ; Haplotypes ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Polymorphism, Single Nucleotide ; Smith-Magenis Syndrome ; Twins, Monozygotic/genetics
Language	English
Publishing date	2014-10
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Twin Study
ZDB-ID	2182682-1
ISSN	1839-2628 ; 1832-4274
ISSN (online)	1839-2628
ISSN	1832-4274
DOI	10.1017/thg.2014.29
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Article: Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova, Klara / Stolarova, Lenka / Zemankova, Petra / Vocka, Michal / Janatova, Marketa / Borecka, Marianna / Cerna, Marta / Jelinkova, Sandra / Kral, Jan / Volkova, Zuzana / Urbanova, Marketa / Kleiblova, Petra / Machackova, Eva / Foretova, Lenka / Hazova, Jana / Vasickova, Petra / Lhota, Filip / Koudova, Monika / Cerna, Leona /

Tavandzis, Spiros / Indrakova, Jana / Hruskova, Lucie / Kosarova, Marcela / Vrtel, Radek / Stranecky, Viktor / Kmoch, Stanislav / Zikan, Michal / Macurek, Libor / Kleibl, Zdenek / Soukupova, Jana

Cancers

2020 Volume 12, Issue 4

Abstract: Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in ... ...

Abstract	Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We aimed to analyze 219 genes in 1333 Czech OC patients and 2278 population-matched controls using next-generation sequencing. We revealed germline mutations in 18 OC/BC predisposition genes in 32.0% of patients and in 2.5% of controls. Mutations in
Language	English
Publishing date	2020-04-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers12040956
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