Lecture 35 - Autosomal Recessive Cancer Predisposition

Question 1

Ataxia-Telangiectasia patients have increased susceptibility to _____ and _____. The mutation in this disease is in the ____ gene, which normally recognizes DNA damage and phosphorylates p53 to stabilize it.

Answer 1

Leukemias and Lymphomas

ATM

Question 2

Fanconi Anemia results from a mutation in any of the 20+ genes involved in inter-strand DNA ________ repair which results in high incidence of _____ and tumors of the head, neck, and skin. Keep in mind the autosomal DOMINANT version involves a mutation in ____2, leading to a predisposition for breast and ovarian cancer.

Answer 2

Inter-strand DNA crosslink repair

AML

BRCA2

Question 3

_____ syndrome arises from a mutation in the BLM gene. These patients present with erythema on the cheeks, and their chromosomes show high frequency of breaks and _____ _____ exchanges.

Answer 3

Bloom Syndrome

Sister Chromatid Exchanges

Question 4

Xeroderma Pigmentosum arises from a mutation in any of 9 genes involved in Nucleotide _____ repair of INTRA-strand dimers. These patients show high susceptibility to skin cancers due to failure to repair pyrimidine dimers that result from UV radiation.

Answer 4

Nucleotide Excision Repair