Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes
Abstract
Inherited diseases are not always expressed in the same way in every individual that carries the same variant in a disease-causing gene. This phenomenon is known as reduced or incomplete penetrance. Variable and incomplete penetrance may explain why inherited diseases are occasionally transmitted through unaffected parents, but also why clinically healthy individuals can carry potentially pathogenic variants without expressing features of the disease. Here, we will provide an overview of factors that play a fundamental role in the concept of penetrance and expressivity of cancer predisposing genes in children with malignancies. These findings are important to understand the complexity of inherited diseases and cancer development and to improve genetic counselling for the affected families.
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The study could not correctly assess the influence of environmental factors and modifier genes on penetrance of APOE mutations.
“Meanwhile, it also prevents the correct and comprehensive assessment of the influence of environmental factors and modifier genes on the penetrance of APOE mutations9,18, 19, 20, 21”
From The First Case of Lipoprotein Glomerulopathy in a Patient With Male Infertility (2026) · cites this paper as [20]
Cites
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Pan-cancer analysis of whole genomes
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Germline Mutations in Predisposition Genes in Pediatric Cancer
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The First Case of Lipoprotein Glomerulopathy in a Patient With Male Infertility
Ye, C., Wang, Y., Liang, C., Wang, Y., Zhang, C., & Jiang, H. (2026) · Kidney Medicine · doi:10.1016/j.xkme.2026.101308
- Authors
- Taeubner, J., Wieczorek, D., Yasin, L., Brozou, T., Borkhardt, A., & Kuhlen, M.
- Affiliations
- Heinrich Heine University Düsseldorf (DE)
- Corresponding author
- Kuhlen, Michaela
- Venue
- Trends in Cancer
- Publisher
- Elsevier BV
- Published
- 2018-11
- Volume
- 4
- Issue
- 11
- Pages
- 718-728
- ISSN
- 2405-8025 (ISSN-L)
- 2405-8033
- OpenAlex
- W2890744727
- Cited by
- 56
- References
- 4
- Citations by year
- 2026: 13 · 2025: 3 · 2024: 3 · 2023: 6 · 2022: 8 · 2021: 13 · 2020: 6 · 2019: 3 · 2018: 1
- FWCI
- 0.79
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in cancer (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- penetrance, expressivity, hereditary cancer, incomplete penetrance, variable expressivity, pathogenic variants, pediatric malignancies, genetic counseling
- MeSH terms
- Humans, Neoplasms, Risk Factors, Syndrome, Genetic Variation, Penetrance, Genetic Predisposition to Disease
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