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Reproductive decision-making in cancer susceptibility syndromes
Helena Carley1, Anjana Kulkarni2
1Clinical Genetics, 7(th) Floor Borough Wing, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK; Clinical Ethics, Law, & Society Group, Wellcome Centre for Human Genetics, Nuffield Department of Medicine, Roosevelt Drive, Oxford, OX3 7BN, UK.
Cancer susceptibility syndromes increase cancer risk due to genetic variants. This review covers common syndromes, reproductive options like genetic testing, and genetic counseling to aid patient decisions.
Area of Science:
- Genetics
- Oncology
- Reproductive Medicine
Background:
- Germline pathogenic variants in cancer susceptibility genes increase lifetime cancer risk.
- Clinical genetics services offer risk management but face uncertainties due to incomplete risk understanding.
- Reproductive options exist for individuals/couples with offspring at risk of hereditary cancer syndromes.
Purpose of the Study:
- To review common cancer susceptibility syndromes.
- To outline reproductive options including prenatal diagnosis and preimplantation genetic testing.
- To present a genetic counseling framework for informed decision-making, addressing complexities of penetrance and ethical issues.
Main Methods:
- Literature review of common cancer susceptibility syndromes.
- Analysis of available reproductive options for hereditary cancer.
- Development of a genetic counseling framework for decision support.
- Exploration of ethical considerations in managing hereditary cancer risks.
Main Results:
- Identified common cancer susceptibility syndromes and their associated genetic variants.
- Detailed reproductive choices available for at-risk individuals and couples.
- Outlined a framework to support genetic counseling and decision-making.
- Discussed challenges related to gene penetrance and ethical dilemmas.
Conclusions:
- Understanding cancer susceptibility syndromes is crucial for risk assessment and management.
- Reproductive genetic testing and counseling empower informed choices for families.
- Addressing complexities of variable penetrance and ethical issues is vital in clinical genetics.
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