Cancer Genetics
Dysmorphology
General Genetics
Reproductive /
Prenatal Genetics
Prenatal Genetics
Cyto/Molecular Lab
100
Many hereditary cancer predisposition syndromes are caused by loss-of-function pathogenic/likely pathogenic variants in tumor suppressor genes. Name one cancer predisposition syndrome that is caused by gain-of-function germline pathogenic variants in an oncogene. (Accept Multiple Responses)
MEN2A or MEN2B / Noonan or Costello Syndrome
100
34-year-old man with aortic root dilatation and ascending aortic aneurysm and a physical finding as shown. Name this condition
Loeys-Dietz Syndrome
100
Mother with karyotype 45, XX, rob(14;21)(q10;q10) visited the prenatal genetics clinic for evaluation of Down syndrome risk in her upcoming pregnancy. What is the empirical risk that her fetus is affected with Down syndrome prior to prenatal diagnosis?
Estimated risk of 10-15%
200
A pathogenic variant in this gene can cause a spectrum of cancers, as shown in this family pedigree.
TP53 (Li-Fraumeni syndrome)
200
Name one additional screening imaging in an 18-year-old boy who presented with clinical features as shown.
Branchio-oto-renal syndrome (Renal ultrasound)
200
This molecular genetic technique is considered the GOLD STANDARD for detecting small copy number variants of a single gene/exon.
MLPA (multiple ligation probe amplification) Assay
300
Name two types of cancer/neoplasms related to this findings.
Medullary thyroid cancer and Pheochromocytoma (Mucosal Neuroma in MEN2B)
300
A 3-year-old boy with short limb and progressive kyphosis. Physical exam shows this finding. Name this condition (or related gene) and the mode of inheritance.
Diastrophic dysplasia (SLC26A2), autosomal recessive inheritance
300
Name one molecular technique to detect DNA methylation disorders in germline or somatic cancer disorders.
MS-MLPA (methylation-specific MLPA) or Disulfite-based sequencing
400
A 45-year-old man was diagnosed with chromophobe renal cell carcinoma. He has a history of recurrent pneumothorax. HRCT shows numerous lung cysts. What is the gene and name of this condition?
Birt-Hogg-Dube Syndrome (FLCN)
500
A germline loss-of-function variant of this gene can lead to hereditary cancer syndrome as a result of impaired function of an endoribonuclease that processes microRNAs, thus impairing the regulation of mRNA translation and mRNA decay. Name the gene and one of the associated tumor.
DICER1 Syndrome (Pleuropulmonary blastoma, Ovarian Sertoli-Leydig cell tumor, embryonal rhabdomyo sarcoma, thyroid multinodular goiter, cancer, adenoma, cystic nephroma, other blastoma)