Genes

Question 1

Transitional cell carcinoma of the bladder
+ invasive ductal breast cancer
+ colonic adenocarcinoma….

Gene? —> Protein function?

Answer 1

CHEK2 mutation –> serine/threonine kinase –> effects DNA damage repair and apoptosis

Question 2

CHEK2 (Checkpoint Kinase 2):

• chromosome?
• protein function?
• Associated cancers?

Answer 2

Chromosome 22

Serine/threonine kinase involved in DNA damage

Breast, colorectal and bladder cancer

Question 3

BRCA1

• chromosome?
• protein function?
• associated cancers?

Answer 3

• chromosome 17q21
• complexes with RNA polymerase in transcription
• Breast and ovarian cancers

Question 4

BRCA2

• chromosome?
• protein function?
• associated cancers?

Answer 4

Chromosome 13q13

Binds directly to DNA to repair damage

• Breast, ovarian, prostate and pancreatic cancer

Question 5

PALB2

• chromosome?
• protein function?
• associated cancers?

Answer 5

“partner and localizer of BRCA2.”

chromosome 16

genome maintenance (repair of double-strand breaks)

• Breast and pancreatic cancer

Question 6

p53

• chromosome?
• protein function?
• associated cancers?

Answer 6

Li-Fraumeni syndrome

chromosome 17p13

regulates cell division

• breast, brain, lung, hematologic malignancies, sarcoma, adrenal cortical carcinoma

Question 7

CDH1

• chromosome?
• protein function?
• associated cancers?

Answer 7

chromosome 16q22

involves i cell adhesion (cadherin)

• breast and gastric cancer

Question 8

PTEN

• chromosome?
• protein function?
• associated cancers?

Answer 8

Cowden syndrome

10q23

phosphatase involved in cell cycle regulation

• breast, thyroid and genitourinary tract

Question 9

Most common genetic defect in colon cancer?

• chromosome?

Answer 9

APC gene

Chromosome 5

Question 10

Which gene is a maker that indicates patients will likely do poorly with chemotherapy?

Answer 10

KRAS