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PubPharm (78)
1
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
enthalten in:
Breast (Edinburgh, Scotland)
| 2024
von
Zemankova, P.
|
Cerna, M.
|
Horackova, K.
| +47
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2
Early-Onset Ovarian Cancer <30 Years : What Do We Know about Its Genetic Predisposition?
enthalten in:
International journal of molecular sciences
| 2023
von
Horackova, K.
|
Janatova, M.
|
Kleiblova, P.
| +2
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3
ENIGMA CHEK2gether Project : A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
enthalten in:
Clinical cancer research : an official journal of the American Association for Cancer Research
| 2023
von
Stolarova, L.
|
Kleiblova, P.
|
Zemankova, P.
| +98
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4
Germline multigene panel testing of patients with endometrial cancer
enthalten in:
Oncology letters
| 2023
von
Kral, J.
|
Jelinkova, S.
|
Zemankova, P.
| +31
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5
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex
enthalten in:
International journal of molecular sciences
| 2023
von
Otahalova, B.
|
Volkova, Z.
|
Soukupova, J.
| +5
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6
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
enthalten in:
Cancers
| 2022
von
Horackova, K.
|
Frankova, S.
|
Zemankova, P.
| +21
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7
Comprehensive quantitative analysis of alternative splicing variants reveals the HNF1B mRNA splicing pattern in various tumour and non-tumour tissues
enthalten in:
Scientific reports
| 2022
von
Hojny, J.
|
Michalkova, R.
|
Krkavcova, E.
| +7
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8
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant : relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
enthalten in:
Hormones (Athens, Greece)
| 2021
von
Bezdicka, M.
|
Kleiblova, P.
|
Soucek, J.
| +7
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9
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
enthalten in:
Cancers
| 2021
von
Wieme, G.
|
Kral, J.
|
Rosseel, T.
| +22
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10
Re : ERCC3, a new ovarian cancer susceptibility gene?
enthalten in:
European journal of cancer (Oxford, England : 1990)
| 2021
von
Soukupova, J.
|
Zemankova, P.
|
Nehasil, P.
| +43
CommentOn: Eur J Cancer. 2020 Dec;141:1-8. - PMID 33125943
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EC 2.7.11.1
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7
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breast cancer
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5
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Antimetabolites, Antineoplastic
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