Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis
[Paper-level Aggregated] PMCID: PMC7785563
Evidence Type(s): Functional
Summary: Mutation: MSH6 | Summary: The tumor cell-specific loss of MSH6 expression in one case suggests that the mutation alters the molecular function of the MMR pathway, contributing to tumorigenesis.
Gene→Variant (gene-first): NA:MSH6
Genes: NA
Variants: MSH6
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis
[Paper-level Aggregated] PMCID: PMC7785563
Evidence Type(s): Oncogenic
Summary: Mutation: R132H | Summary: The IDH1-R132H mutation is associated with conventional supratentorial IDH-mutant astrocytomas, indicating its role in tumor development or progression.
Gene→Variant (gene-first): IDH1(3417):R132H
Genes: IDH1(3417)
Variants: R132H
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis
[Paper-level Aggregated] PMCID: PMC7785563
Evidence Type(s): Predisposing
Summary: Mutation: MSH2 (germline) | Summary: The presence of a known deleterious germline MSH2 mutation in cases diagnosed with Lynch syndrome suggests an inherited risk for colorectal cancer.
Evidence Type: Predisposing Mutation: MSH6 (germline) | Summary: The identification of germline mutations in MSH6 in several tumors indicates a hereditary predisposition to MMR-deficiency syndromes, including Lynch syndrome.
Gene→Variant (gene-first): NA:MSH2 (germline) NA:MSH6 (germline)
Genes: NA
Variants: MSH2 (germline) MSH6 (germline)
To get a deeper insight into the molecular characteristics of this group, we analyzed next-generation sequencing results from 17 cases. Seven cases were analyzed using the Heidelberg 130 gene panel, six cases were sequen
[Paragraph-level] PMCID: PMC7785563 Section: RESULTS PassageIndex: 12
Evidence Type(s): Oncogenic, Predisposing, Functional
Summary: Evidence Type: Oncogenic | Mutation: R132H | Summary: The IDH1-R132H mutation is associated with conventional supratentorial IDH-mutant astrocytomas, indicating its role in tumor development or progression. Evidence Type: Predisposing | Mutation: MSH2 (germline) | Summary: The presence of a known deleterious germline MSH2 mutation in cases diagnosed with Lynch syndrome suggests an inherited risk for colorectal cancer. Evidence Type: Predisposing | Mutation: MSH6 (germline) | Summary: The identification of germline mutations in MSH6 in several tumors indicates a hereditary predisposition to MMR-deficiency syndromes, including Lynch syndrome. Evidence Type: Functional | Mutation: MSH6 | Summary: The tumor cell-specific loss of MSH6 expression in one case suggests that the mutation alters the molecular function of the MMR pathway, contributing to tumorigenesis.
Gene→Variant (gene-first): 3417:R132H
Genes: 3417
Variants: R132H
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis
[Paper-level Aggregated] PMCID: PMC7785563
Evidence Type(s): Oncogenic, Predisposing
Justification: Oncogenic: The text indicates that 90% of the cases harbored the IDH1-R132H mutation, which is associated with conventional supratentorial IDH-mutant astrocytomas, suggesting its role in tumorigenesis. Predisposing: The mention of a personal and family history of colorectal cancer in case no. 10, along with the identification of germline mutations in MMR genes, suggests a predisposition to cancer in these cases.
Gene→Variant (gene-first): IDH1(3417):R132H
Genes: IDH1(3417)
Variants: R132H
To get a deeper insight into the molecular characteristics of this group, we analyzed next-generation sequencing results from 17 cases. Seven cases were analyzed using the Heidelberg 130 gene panel, six cases were sequen
[Paragraph-level] PMCID: PMC7785563 Section: RESULTS PassageIndex: 12
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage indicates that 90% of the cases harbored IDH1-R132H mutations, which are associated with conventional supratentorial IDH-mutant astrocytomas, suggesting a role in defining or classifying the disease. Oncogenic: The presence of IDH1-R132H mutations in the tumors suggests that this somatic variant contributes to tumor development or progression, as it is commonly found in a specific type of cancer.
Gene→Variant (gene-first): 3417:R132H
Genes: 3417
Variants: R132H
To get a deeper insight into the molecular characteristics of this group, we analyzed next-generation sequencing results from 17 cases. Seven cases were analyzed using the Heidelberg 130 gene panel, six cases were sequen
[Paragraph-level] PMCID: PMC7785563 Section: RESULTS PassageIndex: 12
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage indicates that 90% of the cases harbored IDH1-R132H mutations, which are associated with conventional supratentorial IDH-mutant astrocytomas, suggesting a role in defining or classifying the disease. Oncogenic: The presence of IDH1-R132H mutations in the tumors suggests that this somatic variant contributes to tumor development or progression, as it is commonly found in a specific type of cancer.
Gene→Variant (gene-first): 3417:R132H
Genes: 3417
Variants: R132H