Hypothesis

1 Matching Annotations

May 2022
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup

1
1. nslotnick 02 May 2022
  
  in Public
  
  Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
  
  HGNCID:
  
  GeneName: DICER1 PMID (PubMed ID): 33846547 Inheritance Pattern: Non- inheritance(DNA methylation) Disease Entity: Embryonal rhabdomyosarcoma (ERMS) Mutation: c5113G>A Mutation: c.4420A>G Mutation: c.5428G>T Mutation: c.5125G > A Mutation: c.4267G>T Mutation: c.3580delA Mutation: 5428 G>C Mutation: c.5438 A> C Zygosity: Some Cases displayed homozygosity Variant: Clinvar ID not identified Family Information: not identified case mut: f 28-67 case wt: m&f 0.5-19 pathogenicity: only 2 of 17 patients died from disease
Visit annotations in context

Tags

Mutation: 5428 G>C

pathogenicity: only 2 of 17 patients died from disease

PMID (PubMed ID): 33846547

Mutation: c.5428G>T

Family Information: not identified

Mutation: c5113G>A

Disease Entity: Embryonal rhabdomyosarcoma (ERMS)

Mutation: c.5438 A> C

Mutation: c.4420A>G

case wt: m&f 0.5-19

Mutation: c.3580delA

GeneName: DICER1

Variant: Clinvar ID not identified

Inheritance Pattern: Non- inheritance(DNA methylation)

case mut: f 28-67

Mutation: c.4267G>T

Zygosity: Some Cases displayed homozygosity

Mutation: c.5125G > A

Annotators

nslotnick

URL

ncbi.nlm.nih.gov/pmc/articles/PMC8295035/pdf/41379_2021_Article_804.pdf