Retinoblastoma and RB1 Gene Quiz

<p>Certain chromosomes contain cancer suppressor genes (D)</p> Signup and view all the answers

<p>Deletions and point mutations (C)</p> Signup and view all the answers

<p>Enhanced transformed properties (C)</p> Signup and view all the answers

<p>Polymorphisms (C)</p> Signup and view all the answers

<p>It is a sequence variation that might not relate to any disease (B)</p> Signup and view all the answers

<p>Germline and somatic mutations (B)</p> Signup and view all the answers

<p>It was discovered using positional cloning linked to chromosomal deletions. (B)</p> Signup and view all the answers

<p>Single-strand conformation polymorphism (SSCP) (D)</p> Signup and view all the answers

<p>FGFR3 exhibits activating mutations and becomes constitutively active. (D)</p> Signup and view all the answers

<p>Investigating expression, mutation, and functional status of FGF receptor genes. (A)</p> Signup and view all the answers

<p>It highlights the complexity of tumor suppressor functions within specific gene families. (A)</p> Signup and view all the answers

<p>Somatic mutations that contribute to oncogenesis. (A)</p> Signup and view all the answers

<p>t(9;22) translocation (B)</p> Signup and view all the answers

<p>RT-PCR (A)</p> Signup and view all the answers

<p>It is an oncogene activated by gene fusion. (C)</p> Signup and view all the answers

<p>Malignancy can be independent of tumor size. (D)</p> Signup and view all the answers

<p>It acts as a tumor suppressor despite being a kinase. (D)</p> Signup and view all the answers

<p>Translocations involving chromosomes 9 and 22. (C)</p> Signup and view all the answers

<p>Loss on chromosome 10. (A)</p> Signup and view all the answers

<p>Multiple FGF receptors may function as tumor suppressors. (B)</p> Signup and view all the answers

<p>To act as a tumour suppressor (D)</p> Signup and view all the answers

<p>Loss of the functional allele (A)</p> Signup and view all the answers

<p>Paediatric tumours (A)</p> Signup and view all the answers

<p>Hypermethylation leading to transcriptional silencing (A)</p> Signup and view all the answers

<p>Maintaining genome integrity (A)</p> Signup and view all the answers

<p>It generally leads to gene transcriptional silencing (B)</p> Signup and view all the answers

<p>H19 (A)</p> Signup and view all the answers

<p>Transcriptional gene silencing by DNA methylation (D)</p> Signup and view all the answers

<p>Always active due to constitutively present GTP-binding activity (D)</p> Signup and view all the answers

<p>Balanced translocation (B)</p> Signup and view all the answers

<p>Through Southern blot analysis with a specific probe (C)</p> Signup and view all the answers

<p>Multifocal green signals indicating multiple copies (A)</p> Signup and view all the answers

<p>Morphological transformation and enhanced malignancy (D)</p> Signup and view all the answers

<p>Amplification is associated with poor prognosis (A)</p> Signup and view all the answers

<p>Chromosomal translocation (A)</p> Signup and view all the answers

<p>Chromosome 22 (B)</p> Signup and view all the answers

<p>Promoter-driven overexpression of c-MYC (D)</p> Signup and view all the answers

<p>It functions in a constitutively active state (B)</p> Signup and view all the answers

A genetic alteration where an individual loses one copy of a gene, often leading to increased cancer risk. This is common in osteosarcoma, especially when occurring on chromosome 13q14.

A gene found on chromosome 13q14 that acts as a tumor suppressor, meaning it normally helps prevent cancer growth. When mutated or deleted, it increases the risk of cancer, particularly osteosarcoma and retinoblastoma.

A type of cancer that originates in bone. It can occur sporadically (on its own) or as a secondary tumor after another cancer, like retinoblastoma.

A cancer of the retina, often linked to mutations in the RB1 gene. Hereditary retinoblastoma is often associated with LOH on chromosome 13q14.

A normal cell's ability to suppress cancer growth. This is often disrupted when tumor suppressor genes like RB1 are mutated or deleted.

A method for detecting genetic variations by separating single-stranded DNA fragments based on their conformation, using electrophoresis. Denatured and re-natured PCR products are separated, highlighting differences in their structure.

A family of genes that encode receptors for fibroblast growth factors, which are involved in cell growth and development. Mutations in FGFR genes can contribute to the development of various cancers.

A type of cancer that affects the lining of the urinary bladder. It's often associated with mutations in the FGFR3 gene.

These mutations in the FGFR3 gene lead to a constantly active FGFR3 protein, even when there's no signal to activate it. This can cause uncontrolled cell growth and contributes to cancer development.

A gene that encodes a protein that acts as a receptor for fibroblast growth factors (FGFs). Mutations in FGFR3 are known to promote bladder tumor growth, making it an oncogene.

FGFR3 is a receptor tyrosine kinase, and mutations in FGFR3 can cause bladder cancer. Specifically, activating mutations in FGFR3 lead to uncontrolled cell growth and proliferation.

A genetic alteration is a change in the DNA sequence. It can be quantitative, meaning a change in the amount of DNA, or qualitative, meaning a change in the type of DNA.

Genetic polymorphisms are variations in the DNA sequence within a population. These variations are not necessarily associated with disease, but they can be used to track genetic inheritance.

A specific chromosomal translocation found in chronic myeloid leukemia (CML) that involves chromosomes 9 and 22. It is characterized by the fusion of the ABL gene on chromosome 9 with the BCR gene on chromosome 22.

The fusion of the BCR and ABL genes resulting from the Philadelphia chromosome translocation, leading to the formation of a constitutively active BCR-ABL fusion protein.

A type of molecular testing that uses a probe that binds to specific DNA sequences on chromosomes 9 and 22, enabling the detection of the Philadelphia chromosome translocation.

A technique used to detect the presence of BCR-ABL fusion transcripts in cells, indicating the presence of the Philadelphia chromosome and CML.

A tyrosine kinase inhibitor that targets the BCR-ABL fusion protein, effectively treating CML by inhibiting its activity.

Loss of chromosome 10, particularly involving the FGF receptor 2 (FGFR2) gene, in bladder cancer, unexpectedly showing a tumor suppressor role.

The observation that multiple members of the FGF receptor family, including FGFR2 and FGFR3, may act as tumor suppressors in bladder cancer, challenging the traditional view of kinases in cancer development.

The complex biological mechanisms that contribute to the progression and malignancy of tumors, often involving chromosomal changes and gene mutations.

A type of mutation where a single nucleotide change in DNA leads to the substitution of one amino acid for another in a protein.

A gene that, when mutated or overexpressed, can promote cancer development.

A type of protein that acts like a molecular switch, controlling cell growth and division. It's active when bound to GTP and inactive when bound to GDP.

A specific type of RAS protein that can become an oncogene when mutated. It becomes constitutively active, constantly promoting cell growth.

A type of cancer that primarily affects B cells, a type of white blood cell.

A gene that regulates cell growth and proliferation, often found rearranged and overexpressed in Burkitt's Lymphoma.

A type of chromosomal rearrangement where a piece of one chromosome breaks off and attaches to another chromosome.

A gene that is similar to v-myc, an oncogene found in certain viruses. It's often amplified in neuroblastoma, a cancer that affects nerve tissue.

A technique used to visualize and locate specific DNA sequences within chromosomes.

The process of introducing a gene into a cell to study its effects.

A gene that normally suppresses tumour formation, but when mutated or inactivated, can contribute to cancer development.

The process of a wild type RB1 gene being introduced into a cell, potentially reversing abnormal cell growth caused by dysregulation of the RB1 gene.

Changes in gene expression that don't involve alterations to the DNA sequence itself. These changes can affect how genes are read and used.

A non-coding RNA gene involved in growth regulation and frequently silenced by hypermethylation in cancers. Its inactivation may contribute to tumor progression.

The process where one parent's copy of a gene is silenced, while the other parent's copy is expressed. This plays a role in cancer development by affecting tumour suppressor genes.

An example of a tumour suppressor gene located on chromosome 3p25.3. Inactivation of the VHL gene can cause the growth of certain types of kidney cancer.

Regions of DNA containing high concentrations of the base pair 'CG', often found in promoters and exon 1. Methylation of these regions can regulate gene expression and contribute to cancer development.

A type of tumour suppressor gene involved in DNA repair. Mutations in these genes can increase susceptibility to certain cancers like Lynch syndrome and breast cancer.