Next-Generation Sequencing — Flashcards

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

Answer: TP53

Flashcard 2: A _____ score is calculated using the molecular tests for breast cancer, ranging from 0-100

Answer: recurrence

Flashcard 3: Mutations of the _____ gene in 97% of adult granulosa cell tumors

Answer: FOXL2

Flashcard 4: 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 5: Best method for detection of mutation with low allele frequency is _____ PCR

Answer: Droplet digital

Flashcard 6: _____ is a molecular test in breast cancer that is a 70-gene assay

Answer: Mammaprint

Flashcard 7: _____ 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 8: In _____, 24 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.

Answer: Multicolour FISH

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

Answer: Klinefelter

Flashcard 10: _____ syndrome is caused by a defect in fibrillin, a glycoprotein that forms a sheath around elastin

Answer: Marfan