CANCER GENETICS
Penetrance is the proportion of individuals carrying pathogenic variants in the will to manifest the disease from adult onset. Penetrance is usually described by individual carriers, age and sex.
However, once identified, individuals can be approximately reffered for genetic counciling, risk assessment genetic testing and development of management plan.
FEATURES OF HEREDITARY CANCER
- Multiple primary tumors in same organ
- Multiple primary tumora in dfferent organs
- Tumors with rare histology
- Tumors associated with other genetic traits.
- Tumors occuring in sex not usually affected.
PATIENTS FAMILY
EFFECTS OF GENETIC INFORMATION.
- Information about cancer may inform a persons ability to plan for the future.
- Genetic information may provide a direct health benefit.
- May have psychological effect on social costs.
- It may affect medical and lifestyle decision.
- Testing might reveal the presence of non-paternity in a family.
- Some relatives may learn their carrier status without being directly being tested.
- Cancer is a genetic disease caused by certain change to genes that control ways our cells function.
- Gene control protein synthesis, which control cellular metabolism.
- Genetic changes that occur after conception are called somatic (acquired ) changes.
HEREDITARY CANCER SYNDROMES
Plays a role in about 5-10% of all cancers
- Most commonly mutated gene in all cancer is "TP53" which produces protein that suppresses the growth if tumors.
- Gamline mutation in this gene can cause "li-fraumeni syndrome"
- Inherited mutation in "BRCAI"and "BRCA2" gene are associated with hereditary breast ovarian cancer
- "PTENIS" another gene that suppresses growth of tumor. Mutation of these gene causes "Cowden Syndrome".
Salient Point👌
Cancer is really a hazard and should not be nursed or hidden...Speak up, embark on various physiotherapy and check up exercises.We fight to win😃