Screening for Hereditary Cancer Syndromes
Venkata S Katabathina1, Haneen Marji1, Krishna P Shanbhogue2
1Department of Radiology, University of Texas Health, San Antonio, TX, USA.
Radiologic Clinics of North America
|April 22, 2026
Summary
Hereditary cancer syndromes increase susceptibility to early-onset tumors due to gene mutations. Studying these rare conditions improves understanding of common cancers, their drivers, and prognosis.
Area of Science:
- Genetics
- Oncology
- Pathology
Background:
- Hereditary cancer syndromes feature increased risk for early-onset, multifocal tumors.
- These syndromes are typically autosomal dominant, linked to germline mutations in tumor suppressor genes.
Purpose of the Study:
- To elucidate the molecular biology and tumor pathways in hereditary cancer syndromes.
- To enhance understanding of sporadic neoplasms through the study of rare hereditary syndromes.
Main Methods:
- Review of recent advances in genetics and pathology.
- Comprehensive investigation of rare hereditary cancer syndromes.
Main Results:
- New insights into molecular biology, tumor pathways, and tumor behavior in hereditary syndromes.
- Improved understanding of driver mutations, tumor pathways, natural history, and prognosis for sporadic neoplasms.
Conclusions:
- Investigating rare hereditary cancer syndromes offers valuable insights into common sporadic cancers.
- Advances in genetics and pathology are crucial for deciphering cancer pathogenesis and management.
Related Concept Videos
02:59Cancer Prevention
6.5K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.5K
02:59Cancer Prevention
2.6K
2.6K
02:46Genetic Screens
4.6K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.6K
01:20The Retinoblastoma Gene
2.1K
2.1K
01:20The Retinoblastoma Gene
3.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
3.7K
01:33Cancer-Critical Genes I: Proto-oncogenes
8.8K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.8K