Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
[Paper-level Aggregated] PMCID: PMC2910708
Evidence Type(s): Functional
Summary: Mutation: c.1728_1766dup39bp | Summary: The duplication mutation c.1728_1766dup39bp in KIT exon 11 alters molecular or biochemical function.
Gene→Variant (gene-first): KIT(3815):c.1728_1766dup39bp
Genes: KIT(3815)
Variants: c.1728_1766dup39bp
Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
[Paper-level Aggregated] PMCID: PMC2910708
Evidence Type(s): Oncogenic
Summary: Mutation: c.1735_1737delGAT | Summary: The deletion mutation c.1735_1737delGAT in KIT exon 11 is associated with tumor development or progression.
Evidence Type: Oncogenic Mutation: c.1661_1705del45bp | Summary: The deletion mutation c.1661_1705del45bp in KIT exon 11 is associated with tumor development or progression.
Gene→Variant (gene-first): KIT(3815):c.1735_1737delGAT KIT(3815):c.1661_1705del45bp
Genes: KIT(3815)
Variants: c.1735_1737delGAT c.1661_1705del45bp
Three different DNA samples containing mutations in KIT exon 11 (i.e. two deletions, c.1735_1737delGAT; p.D579del and c.1661_1705del45bp; p.E554_Y568del and one duplication, c.1728_1766dup39bp; p.L576_L588dup) were analy
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 16
Evidence Type(s): Oncogenic, Functional
Summary: Evidence Type: Oncogenic | Mutation: c.1735_1737delGAT | Summary: The deletion mutation c.1735_1737delGAT in KIT exon 11 is associated with tumor development or progression. Evidence Type: Oncogenic | Mutation: c.1661_1705del45bp | Summary: The deletion mutation c.1661_1705del45bp in KIT exon 11 is associated with tumor development or progression. Evidence Type: Functional | Mutation: c.1728_1766dup39bp | Summary: The duplication mutation c.1728_1766dup39bp in KIT exon 11 alters molecular or biochemical function.
Gene→Variant (gene-first): 3815:L588dup 3815:Y568del 3815:c.1661_1705del45bp 3815:c.1728_1766dup39bp 3815:c.1735_1737delGAT 3815:p.D579del
Genes: 3815
Variants: L588dup Y568del c.1661_1705del45bp c.1728_1766dup39bp c.1735_1737delGAT p.D579del
Taken together, analysis of KIT exon 11 failed in three cases, including two cases with the detection of wild-type sequences instead of point mutation and duplication, respectively, and one case with the description of a
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 5
Evidence Type(s): None
Summary: Not enough information in this passage.
Gene→Variant (gene-first): 5156:D842V
Genes: 5156
Variants: D842V
For five out of 10 samples (T1.2, T1.5, T1.7, T1.8 and T1.9), all six laboratories achieved identical assessments. In five samples, conflicting data were obtained by at least one of the panel labs. For these samples, the
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 4
Evidence Type(s): None
Summary: Not enough information in this passage.
Gene→Variant (gene-first): 5156:p.R822 H
Genes: 5156
Variants: p.R822 H
Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
[Paper-level Aggregated] PMCID: PMC2910708
Evidence Type(s): nan
Justification: No positive paragraphs to aggregate.
Gene→Variant (gene-first):
Genes:
Variants:
Three different DNA samples containing mutations in KIT exon 11 (i.e. two deletions, c.1735_1737delGAT; p.D579del and c.1661_1705del45bp; p.E554_Y568del and one duplication, c.1728_1766dup39bp; p.L576_L588dup) were analy
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 16
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 3815:L588dup 3815:Y568del 3815:c.1661_1705del45bp 3815:c.1728_1766dup39bp 3815:c.1735_1737delGAT 3815:p.D579del
Genes: 3815
Variants: L588dup Y568del c.1661_1705del45bp c.1728_1766dup39bp c.1735_1737delGAT p.D579del
Taken together, analysis of KIT exon 11 failed in three cases, including two cases with the detection of wild-type sequences instead of point mutation and duplication, respectively, and one case with the description of a
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 5
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 5156:D842V
Genes: 5156
Variants: D842V
For five out of 10 samples (T1.2, T1.5, T1.7, T1.8 and T1.9), all six laboratories achieved identical assessments. In five samples, conflicting data were obtained by at least one of the panel labs. For these samples, the
[Paragraph-level] PMCID: PMC2910708 Section: RESULTS PassageIndex: 4
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 5156:p.R822 H
Genes: 5156
Variants: p.R822 H