Variant interpretation Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Genetic changes that may be missed in testing

A
  • epigenetic alterations (abnormal methylation)
  • trinucleotide repeat expansion
  • deep intronic changes
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2
Q

Li- Fraumeni syndrome

A
  • autosomal dominant
  • TP53
  • The lifetime risk of cancer is ≥70% for men and ≥90% for women Risk changes with age. 22% of the cancers between 0 and 15 years, 51% between 16 and 50 years, and 27% between 51 and 80 years
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3
Q

Phasing (testing parents)

A

Variants in cis or trans in AR disorder
De novo data gives moderate/strong evidence of pathogenicity

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