Germinal pathogenic CHEK2, novel APC and somatic JAK2V617F variants in a young patient with colorectal cancer, atypical leukemia, cerebral tumour and aggressive course Article Swipe
L. Rojas
,
J. Rodriguez
,
Sebastián Navarrete
,
Luis A. Carvajal
,
José Silva
,
L Martínez
,
Joseph J. Catanese
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3332/ecancer.2025.1833
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3332/ecancer.2025.1833
Higher CHEK2 and JAK2 expression have been correlated with better survival among patients with rectal adenocarcinoma, lung squamous cell carcinoma, breast cancer, ovarian cancer and several other cancer types. It has been suggested that genome alterations due to lowered or loss of CHEK2 and JAK2 expression may exacerbate cancer progression and predict poor patient survival. In this report, we present the clinical case of a 35-year-old patient exhibiting multiple tumours, an aggressive course, whose genetic analysis revealed a germinal mutation in CHEK2 gen, somatic JAK2V617F and a germinal novel variant in Adenomatous Polyposis Coli (APC) gene of uncertain significance may account for the polyposis and medulloblastoma in the patient, given the variant's genomic location. It is also possible that two germline mutations (CHEK2 and APC) are causing two concurrent conditions in the patient with poorer clinical course.
Related Topics
Concepts
Medicine
Colorectal cancer
Somatic cell
CHEK2
Cancer
Cancer research
Leukemia
Oncology
Pathology
Internal medicine
Genetics
Germline mutation
Gene
Mutation
Biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3332/ecancer.2025.1833
- OA Status
- gold
- Cited By
- 1
- References
- 22
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4406764209
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4406764209Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3332/ecancer.2025.1833Digital Object Identifier
- Title
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Germinal pathogenic CHEK2, novel APC and somatic JAK2V617F variants in a young patient with colorectal cancer, atypical leukemia, cerebral tumour and aggressive courseWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-01-23Full publication date if available
- Authors
-
L. Rojas, J. Rodriguez, Sebastián Navarrete, Luis A. Carvajal, José Silva, L Martínez, Joseph J. CataneseList of authors in order
- Landing page
-
https://doi.org/10.3332/ecancer.2025.1833Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.3332/ecancer.2025.1833Direct OA link when available
- Concepts
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Medicine, Colorectal cancer, Somatic cell, CHEK2, Cancer, Cancer research, Leukemia, Oncology, Pathology, Internal medicine, Genetics, Germline mutation, Gene, Mutation, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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22Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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