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Familial breast and bowel cancer: does it exist?
Rodney J Scott1, Katie A Ashton
1Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia. Rodney.Scott@hunter.health.nsw.gov.au.
Hereditary Cancer in Clinical Practice
|March 18, 2010
Summary
Familial breast and bowel cancers lack clear genetic links, though hereditary non-polyposis colorectal cancer (HNPCC) may involve breast cancer with DNA microsatellite instability.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Familial cancer predispositions, particularly for breast and bowel cancers, are debated.
- Evidence for specific susceptibility genes in these kindreds is limited.
- Hereditary non-polyposis colorectal cancer (HNPCC) is a controversial syndrome in this context.
Purpose of the Study:
- To review the relationship between breast and bowel cancers.
- To explore potential genetic links and explanations for differing literature viewpoints.
- To investigate the role of DNA microsatellite instability in HNPCC-related breast cancers.
Main Methods:
- Literature review of familial cancer predispositions.
- Analysis of molecular data from breast tumors in HNPCC contexts.
- Examination of DNA microsatellite instability patterns.
Main Results:
- Overall incidence of breast cancer in HNPCC is not elevated compared to the general population.
- Breast tumors within HNPCC kindreds frequently exhibit DNA microsatellite instability.
- This instability suggests a potential molecular link to the genetic entity of HNPCC.
Conclusions:
- The molecular findings, specifically DNA microsatellite instability, suggest a connection between breast cancer and HNPCC.
- A possible explanation for the diverse literature views on breast and bowel cancer predisposition is proposed.
- Further research into genetic susceptibility and molecular markers is warranted.
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