24 Questions
What type of mutation is involved in the conversion of a proto-oncogene to an oncogene?
Hypermorphic (gain of function)
In hereditary retinoblastoma, where is the inherited mutation located?
RB1 TS gene on one copy of Chr 13q14 in all cells
What is the classic example of a hereditary cancer syndrome related to the 'first hit' in a TSG being inherited as a constitutional mutation?
Hereditary Retinoblastoma
What is the percentage of cases in which sporadic retinoblastoma accounts for the two hits occurring de novo (somatic)?
2/3
What is the most common mechanism for the '2nd hit' to occur in familial cancer syndromes?
Loss of heterozygosity (LOH)
Which gene mutations are most common in hereditary breast cancer?
BRCA1 & 2
What type of inheritance pattern is observed in hereditary/familial cancer syndromes?
Autosomal dominant
What is the potential of molecular (gene expression) profiling in cancer management?
Assessing prognosis and guiding therapeutic selection
What did a 2018 study find about the mean total cost of NGS for targeted gene panels in clinical practice in France?
607€ (±207) in somatic genetics and 550€ (±140) in germline oncogenetic analysis
What did a 2018 meta-analysis find about WGS/WES in diagnosing genetic abnormalities in children?
Better at diagnosing clinically relevant genetic abnormalities in children than chromosomal microarray
What is the potential of cancer genomics and NGS technologies in clinical practice?
Design of personalized/precision medicine treatments
What is the main issue to be overcome for the clinical practice of cancer genomics and NGS technologies?
Data analysis and interpretation, managing incidental results, and ethical concerns
Which mechanism is the most important for the second hit in hereditary cancer syndromes?
Loss of Heterozygosity (LOH)
What percentage of Retinoblastoma cases have a positive family history?
10%
Which type of inheritance pattern is associated with hereditary cancer syndromes?
Autosomal dominant
What percentage of breast cancer cases is accounted for by Hereditary Breast Cancer (HBC)?
5%
Which gene is a tumor suppressor gene with a germ-line inherited non-functioning allele?
BRCA1
What drives breast cancer as a genetic disease?
DNA changes in somatic cells
What is the most significant factor contributing to cancer progression?
Accumulation of genetic and chromosomal changes
What are the challenges of Next Generation Sequencing (NGS) in clinical medicine and public health?
Data analysis, informed consent, data protection, and costs
Which syndrome is an example of a hereditary cancer syndrome?
Familial Adenomatous Polyposis (FAP)
Which type of mutation increases the likelihood of both copies being affected?
Inherited mutation
What is the risk of other forms of cancer in hereditary cancer syndrome patients?
Prone to other forms of cancer
Which gene is associated with a 95% risk of Retinoblastoma?
RB1
Study Notes
Hereditary Cancer Syndromes and Breast Cancer
- Inherited mutations increase the likelihood of both copies being affected
- Loss of Heterozygosity (LOH) is the most important mechanism of the second hit in hereditary cancer syndromes
- Retinoblastoma has a 95% risk, and only 10% of cases have a positive family history
- Hereditary cancer syndrome patients are prone to other forms of cancer
- Familial Adenomatous Polyposis (FAP) and Lynch Syndrome are examples of hereditary cancer syndromes
- Hereditary cancer syndromes are inherited in an autosomal dominant pattern
- Hereditary Breast Cancer (HBC) accounts for about 5% of breast cancer cases
- BRCA1 is a tumor suppressor gene with germ-line inherited non-functioning allele
- Breast cancer is a genetic disease driven by DNA changes in somatic cells
- Cancer progression is the result of the accumulation of several genetic and chromosomal changes
- Different cancers are associated with specific oncogenes or tumor suppressor genes
- Challenges of Next Generation Sequencing (NGS) in clinical medicine and public health include data analysis, informed consent, data protection, and costs.
Test your knowledge of hereditary cancer syndromes and their association with breast cancer with this quiz. Explore the inheritance patterns, genetic mechanisms, and specific examples of hereditary cancer syndromes, as well as the role of tumor suppressor genes like BRCA1. Delve into the challenges posed by Next Generation Sequencing (NGS) in clinical and public health settings.
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