ABGC
A couple who are first cousins inquire about the chance of having a child affected with a genetic disorder. Their common maternal uncle has galactosemia. The chance that they will have child with galactosemia is:
1/8
1/16
1/36
1/64
1/36
While most cancer is sporadic, what percentage of cancer is thought to be hereditary?
A. 1–2%
B. 5–10%
C. 20–30%
B. 5–10%
What is Molecular Residual Disease (MRD)?
A. Cancer that is visible on imaging after treatment
B. Small amounts of cancer remaining after treatment that are undetectable by standard imaging
C. Genetic mutations found only in healthy tissue
B. Small amounts of cancer remaining after treatment that are undetectable by standard imaging
What percentage of the U.S. population is RhD negative?
A. 5%
B. 15%
C. 30%
B. 15%
Mutations in which gene account for approximately 85% of cases of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
A. PKD2
B. HNF1B
C. PKD1
C. PKD1
Answer: False
False
An autosomal recessive condition has an incidence of 1/1600. What is the carrier frequency?
1/10
1/20
1/40
1/80
1/20
Pathogenic variants in the TP53 gene are associated with Li-Fraumeni syndrome. Humans have 2 copies of TP53—how many copies does an elephant have?
A. 10
B. 20
C. 40
C. 40
Which technology is most commonly used for MRD detection in solid tumors using blood samples?
A. Immunohistochemistry (IHC)
B. Circulating tumor DNA (ctDNA) via next-generation sequencing (NGS)
C. Karyotyping
B. Circulating tumor DNA (ctDNA) via next-generation sequencing (NGS)
What is the approximate rate of twin births?
A. 1 in 10
B. 1 in 30
C. 1 in 100
B. 1 in 30
Research suggests up to what percentage of chronic kidney disease (CKD) cases may have a genetic etiology?
A. 5%
B. 20%
C. 50%
B. 20%
What year was the first human gene fully sequenced?
$200 Bonus for naming gene
Answer: 1977
Bonus: gene CSH1 Human Chorionic Somatomammotropin
Osteogenesis Imperfecta (OI) is associated with pathogenic variants in multiple genes including COL1A1, COL1A2, CRTAP, LEPRE1, SERPINF1. What is this feature of genetic disease called?
Locus Heterogeneity
Allelic heterogeneity
Variable Expressivity
Linkage disequilibrium
Locus Heterogeneity
3. Question:
On which chromosome is the BRCA1 gene located?
A. Chromosome 13
B. Chromosome 17
C. Chromosome 21
B. Chromosome 17
A patient with stage II colorectal cancer has detectable MRD after surgery. What does this imply?
The patient has a high risk of recurrence
What percentage of twin pregnancies experience a vanished twin?
A. ~10%
B. ~30%
C. ~60%
B. ~30%
Which gene is the most frequent genetic cause of developmental renal anomalies, including renal cysts and diabetes syndrome?
A. HNF1B
B. HNF4A
C. PKD1
A. HNF1B
Long before genetic testing became as easy as sending in a sample, this 1953 discovery gave scientists the “instruction manual” shape that helped launch the genomics era.
What is the double helix structure of DNA?
What is the most appropriate test to evaluate a child with developmental delay, autism, and multiple congenital anomalies?
Chromosomal microarray (CMA)
While breast cancer is the most common cancer diagnosed in women, what is the most common cancer diagnosed in men?
A. Lung cancer
B. Colorectal cancer
C. Prostate cancer
C. Prostate cancer
What is a key advantage of tumor-informed MRD assays over tumor-agnostic assays?
A. Lower cost
B. Faster turnaround time
C. Higher sensitivity and specificity
C. Higher sensitivity and specificity
How is fetal fraction calculated?
A. Maternal DNA ÷ (fetal + maternal DNA)
B. Fetal DNA ÷ (fetal + maternal DNA)
C. Fetal DNA ÷ maternal DNA
B. Fetal DNA ÷ (fetal + maternal DNA)
In patients with hematuria, which gene family is most implicated, and what percentage of positive cases does it represent?
A. NPHS1/NPHS2 (~40%)
B. COL4A3, COL4A4, COL4A5 (~80%)
C. UMOD/MUC1 (~20%)
B. COL4A3, COL4A4, COL4A5 (~80%)
What is about 25% (~5,000 genes) of the total number of protein coding genes
What inheritance pattern is most consistent with mitochondrial disorders?
Maternal inheritance
What distinctive physical finding do patients with Constitutional Mismatch Repair Deficiency (CMMRD) and Neurofibromatosis Type 1 (NF1) share?
A. Telangiectasias
B. Café-au-lait spots
C. Hypopigmented macules
B. Café-au-lait spots
Why is serial MRD testing important?
It allows monitoring of disease status over time and earlier detection of recurrence
It allows monitoring of disease status over time and earlier detection of recurrence
What is the most common genetic cause of early pregnancy loss?
Trisomy 16
Why does donor-derived cell-free DNA (dd-cfDNA) increase in cases of allograft injury?
Injured donor cells release DNA into circulation
Collectively, rare disease affects over ________________ million people worldwide. Correct answer can be within 5 million.
DAILY DOUBLE
What is 350 million