Mutator Phenotypes & Cancer Predisposition

Question 0

What is Xeroderma Pigmentosum (XP)

Answer 0

Photosensitivity; early cancers
Nucleotide excision repair error
XPA thru XPG genes affected

Question 1

What is Lynch syndrome (hereditary colon cancer)?

Answer 1

Non-polyposis colon cancer
Mismatch correction error
hMSH2; hMLH genes affected

Question 2

What is XP Variant (XPV)?

Answer 2

Photosensitivity, early cancers
Specialized DNA polymerase eta error
hRAD30A (pol eta) gene affected

Question 3

What is Cockayne Syndrome (CS)?

Answer 3

Photosensitivity, premature senility, developmental disorders (no cancer predisposition)
Transcription-coupled repair error (loss of recruitment of NER/BER machinery)
CS-A, CS-B, XPB, XPD, XPG genes affected

Question 4

What is trichothiodystrophy?

Answer 4

Photosensitivity, premature senility, “brittle hair” (no cancer predisposition)
Repair; transcription errors
XPB, XPD, TTD-A (p8) genes affected

Question 5

What is Bloom syndrome?

Answer 5

Photosensitivity, growth arrest, cancer susceptibility
DNA helicase error
BLM gene affected

Question 6

What is Werner syndrome?

Answer 6

Premature aging, cancer susceptibility
DNA helicase/nuclease error
WRN gene