Principles of Molecular Pathology — Flashcards

Flashcard 1: _____ is the most commonly mutated gene in sporadic breast carcinomas

Answer: TP53

Flashcard 2: Activating mutation in _____ is responsible for bladder carcinoma.

Answer: HRAS

Flashcard 3: In Array based Comparative Genomic Hybridization, if the test sample has deletion, then some spots on the array will fluoresce _____

Answer: Red

Extra: In Array-based Comparative Genomic Hybridization (aCGH), the standard color convention (as per Robbins Pathology) is: • **Test (Patient) DNA**: Labeled with **Green** fluorophore (Cy3) • **Reference (Control) DNA**: Labeled with **Red** fluorophore (Cy5) **Interpretation of Spots:** • **Red**: Indicates a **deletion** (loss) in the test DNA (more reference DNA bound). • **Green**: Indicates an **amplification** (gain) in the test DNA (more patient DNA bound). • **Yellow**: Indicates a **normal** (balanced) amount of DNA.

Flashcard 4: HER2-_____ cancers are most common subtype of breast cancer in patients with germline mutations in TP53 (Li Fraumeni syndrome)

Answer: positive

Flashcard 5: _____ pattern of staining represents antibodies to RNA

Answer: Nucleolar

Flashcard 6: What is the chromosomal translocation that results in malignancy from the **ABL** oncogene? _____

Answer: t(9;22)

Flashcard 7: Point mutation of _____ protein is seen in uveal melanoma.

Answer: GNAQ

Flashcard 8: _____ syndrome is a disease from abnormal biogenesis of lysosome-related organelles with impaired melanosome maturation and absent dense bodies in thrombocytes.

Answer: Hermansky Pudlak

Flashcard 9: _____ syndrome is most commonly characterized by a 47,XXY karyotype

Answer: Klinefelter

Flashcard 10: In _____, 24 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.

Answer: Multicolour FISH