Genetics - Cancer Predisposition Flashcards
1
Q
Extragenic DNA
A
- Repetitive sequences
- Control regions
- Spacer DNA between genes
- Unknown function
2
Q
Heretibility of ovarian and breast cancer
A
- Majority sporadic
- Moderately caused by family clusters
- Small portion hereditary
3
Q
Germline vs somatic cancer
A
- Germline
- Present in eggs or sperm
- Heritable
- Causes family cancer syndrome
- Somatic
- Occurs in non-germline tissues
- Non-heritable
4
Q
Define oncogene
A
- Gene which in certain circumstances can transform a cell into a tumour cell
- Mutation leads to accelerated cell division
- Sufficent for role in cancer development
*
4
Q
Define oncogene
A
- Gene which in certain circumstances can transform a cell into a tumour cell
- Mutation leads to accelerated cell division
- Sufficent for role in cancer development
*
5
Q
Define retinoblastoma
A
- Rare cancer formed from immature cells of the retina → primary tissue of the eye
- Predominately causes malignant IO cancer in children
- Associated with hereditary defect of chromosome 13 gene 13q14 retinoblastoma protein
6
Q
Define Li-fraumeni Syndrome
A
- Inheritable familial predisposition to range of rare cancers
- Mutation of tumour suppressor gene (TP53) → damaged P53 protein
- Unable to prevent development of malignant tumours
- Commonly causes soft-tissue and bone sarcoma, breast cancer, brain tumours and adrenocortical carcinoma
7
Q
When to suspect hereditary cancer syndrome
A
- 2 or more family members with cancer
- Early age of diagnosis
- Multiple primary tumours
- Characteristic pattern (breast and ovary)
- Autosomal dominant transmission
8
Q
Aspects of a clinical genetic consultation
A
- Family history
- Risk estimation
- Explanation of risk
- Intervention
- Awareness of signs and symptoms
- Lifestyle changes
- Screening
- Prophylactic surgery
- Genetic testing
9
Q
Multistep carcinogenesis
A
