Germline

Question 1

Germline exon 11 KIT mutation

Answer 1

Urticaria pigmentosa
Hyperpigmentation
Dysphagia
GISTs

Question 2

Germline pathogenic SDH mutation

Answer 2

GISTs and paragangliomas

Question 3

Germline pathogenic PRKAR1A mutation

Answer 3

Carney complex:
Gastric GISTs
Pulmonary chondromas
Paragangliomas

Question 4

SNRPN and UBE3A methylation

Answer 4

This locus can be read in two ways: In one direction it codes for SNRPN, in the other direction it codes for UBE3A. The maternal copy is methylated prior to reproduction.

Prader-Willi happens when there is paternal deletion.

Angelman happens when there is maternal deletion.

Question 5

Most prevalent BRCA1 variants in the Ashkenazi Jewish population

Answer 5

185delAG

5382insC

One of these is present in 1/40 Ashkenazi Jewish individuals.

Question 6

Current screening for cystic fibrosis in the United States

Answer 6

Blood levels of immunoreactive trypsinogen is first-line.

If this is abnormal, there will be DNA confirmation by some form of PCR or sequencing analysis.