62 Molecular Genetics

Question 1

What is the chromosome, gene, and function associated with Wilms’ tumor in Wilms’ tumor syndrome?

Answer 1

Chromosome: 11p13, Gene: WT1, Function: Transcriptional repressor

Question 2

What is the chromosome, gene, and function associated with Wilms’ tumor in Beckwith-Wiedemann syndrome?

Answer 2

Chromosome: 11p15, Gene: CDKN1C, Function: Cell cycle regulator

Question 3

What is the chromosome, gene, and function associated with clear cell renal cell carcinoma in Von Hippel-Lindau syndrome?

Answer 3

Chromosome: 3p25, Gene: VHL, Function: Transcriptional elongation and ubiquitination

Question 4

What is the chromosome, gene, and function associated with papillary renal cell carcinoma in Hereditary papillary renal cancer?

Answer 4

Chromosome: 7q31, Gene: MET, Function: Receptor tyrosine kinase

Question 5

What is the chromosome, gene, and function associated with papillary renal cell carcinoma in Birt-Hogg-Dubé syndrome?

Answer 5

Chromosome: 17p11.2, Gene: FLCN, Function: Unknown function

Question 6

What is the chromosome and gene associated with pheochromocytoma in Multiple endocrine neoplasia type II?

Answer 6

Chromosome: 10q11, Gene: RET, Function: Receptor tyrosine kinase

Question 7

What are the chromosomes, genes, and function associated with upper tract transitional cell carcinoma in Hereditary nonpolyposis colorectal cancer?

Answer 7

Chromosomes: 2p22, 3p21.3, 2p18, 2q31-q33, 7p22, 14q24.3, Genes: MSH2, MLH1, MSH6, PMS1, PMS2, MLH3, Function: DNA mismatch repair

Question 8

What are the chromosomes, genes, and function associated with prostate cancer in Hereditary prostate cancer?

Answer 8

Chromosomes: 1q24-25, 1p36, 1q42-43, 8p22-23, 17p11, 20q13, Xq27-28, Genes: RNASEL, MSR1, ELAC2, Function: Endoribonuclease, macrophage-specific receptor, cell cycle regulator

Question 9

What is the chromosome, gene, and function associated with retinoblastoma in Familial retinoblastoma?

Answer 9

Chromosome: 13q14, Gene: RB, Function: Transcriptional regulation

Question 10

What are the chromosomes, genes, and function associated with sarcoma and breast carcinoma in Li-Fraumeni syndrome?

Answer 10

Chromosome: 17p13, Genes: TP53, Function: Transcription factor, serine kinase

Question 11

What is the chromosome, gene, and function associated with colorectal carcinoma in Familial adenomatous polyposis?

Answer 11

Chromosome: 5q21, Gene: APC, Function: Regulates β-catenin activity

Question 12

What are the chromosomes, genes, and function associated with breast carcinoma in Familial breast carcinoma?

Answer 12

Chromosomes: 17q21, 13q12, Genes: BRCA1, BRCA2, Function: DNA double-strand break repair

Question 13

What is the chromosome, gene, and function associated with breast carcinoma in Cowden’s disease?

Answer 13

Chromosome: 10q23, Gene: PTEN, Function: Phosphatase; PI3K antagonist

Question 14

What is the chromosome, gene, and function associated with pancreatic islet cell carcinoma in Multiple endocrine neoplasia type I?

Answer 14

Chromosome: 11q13, Gene: MEN1, Function: Transcription factor