[Paper-level Aggregated] PMCID: PMC6333965

Evidence Type(s): Oncogenic

Summary: Mutation: E545K | Summary: The PIK3CA E545K mutation is noted as a potentially targetable alteration and is established as a canonical mutation contributing to tumor development.

Evidence Type: Oncogenic Mutation: R58X | Summary: The CDKN2A R58X mutation is mentioned as a potentially targetable alteration and is associated with tumor development due to its role in cell cycle regulation.

Evidence Type: Oncogenic Mutation: R209Q/W | Summary: The TP53 inactivating mutations R209Q/W are implicated in cell cycle deregulation, contributing to tumor progression.

Evidence Type: Oncogenic Mutation: R243W/Q | Summary: The TP53 inactivating mutations R243W/Q are associated with cell cycle deregulation, indicating their role in tumor development.

Gene→Variant (gene-first): PIK3CA(5290):E545K CDKN2A(1029):R58X TP53(7157):R209Q/W TP53(7157):R243W/Q

Genes: PIK3CA(5290) CDKN2A(1029) TP53(7157)

Variants: E545K R58X R209Q/W R243W/Q

[Paragraph-level] PMCID: PMC6333965 Section: RESULTS PassageIndex: 12

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: E545K | Summary: The PIK3CA E545K missense mutation is established as a canonical mutation contributing to tumor development. Evidence Type: Oncogenic | Mutation: R58X | Summary: The CDKN2A R58X nonsense mutation is associated with tumor development due to its role in cell cycle regulation. Evidence Type: Oncogenic | Mutation: R209Q/W | Summary: The TP53 inactivating mutations R209Q/W are implicated in cell cycle deregulation, contributing to tumor progression. Evidence Type: Oncogenic | Mutation: R243W/Q | Summary: The TP53 inactivating mutations R243W/Q are associated with cell cycle deregulation, indicating their role in tumor development.

Gene→Variant (gene-first): 5290:E545K 7157:R209Q/W 7157:R243W/Q 1029:R58X

Genes: 5290 7157 1029

Variants: E545K R209Q/W R243W/Q R58X

[Paragraph-level] PMCID: PMC6333965 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: E545K | Summary: The PIK3CA E545K mutation is noted as a potentially targetable alteration, indicating its contribution to tumor development or progression. Evidence Type: Oncogenic | Mutation: R58X | Summary: The CDKN2A R58X mutation is also mentioned as a potentially targetable alteration, suggesting its role in tumor development or progression.

Gene→Variant (gene-first): 5290:E545K 1029:R58X

Genes: 5290 1029

Variants: E545K R58X

[Paper-level Aggregated] PMCID: PMC6333965

Evidence Type(s): Oncogenic, Prognostic

Justification: Oncogenic: The text mentions that mutations in PIK3CA (E545K) and CDKN2A (R58X) are potentially targetable, indicating their role in cancer development. Additionally, TP53 mutations (R209Q/W, R243W/Q) are associated with cell cycle deregulation, further supporting their oncogenic potential. Prognostic: The text states that mutations in TP53, CDKN2A, and CCND1 are significantly associated with poorer overall survival, indicating their prognostic value in the context of cancer outcomes.

Gene→Variant (gene-first): PIK3CA(5290):E545K TP53(7157):R209Q/W TP53(7157):R243W/Q CDKN2A(1029):R58X

Genes: PIK3CA(5290) TP53(7157) CDKN2A(1029)

Variants: E545K R209Q/W R243W/Q R58X

[Paragraph-level] PMCID: PMC6333965 Section: RESULTS PassageIndex: 12

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the identification of specific mutations in PIK3CA and CDKN2A, indicating their association with patient populations, which suggests their role in defining or classifying disease subtypes. Oncogenic: The mention of TP53 inactivating mutations (R209Q/W, R243W/Q) causing cell cycle deregulation implies that these somatic variants contribute to tumor development or progression.

Gene→Variant (gene-first): 5290:E545K 7157:R209Q/W 7157:R243W/Q 1029:R58X

Genes: 5290 7157 1029

Variants: E545K R209Q/W R243W/Q R58X

[Paragraph-level] PMCID: PMC6333965 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage mentions that PIK3CA E545K and CDKN2A R58X are potentially targetable alterations, indicating their association with specific tumor characteristics or responses, which aligns with diagnostic evidence. Oncogenic: The variants PIK3CA E545K and CDKN2A R58X are described as potentially targetable alterations, suggesting their role in tumor development or progression, which supports oncogenic evidence.

Gene→Variant (gene-first): 5290:E545K 1029:R58X

Genes: 5290 1029

Variants: E545K R58X

[Paragraph-level] PMCID: PMC6333965 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage mentions that PIK3CA E545K and CDKN2A R58X are potentially targetable alterations, indicating their association with specific tumor characteristics or responses, which aligns with diagnostic evidence. Oncogenic: The variants PIK3CA E545K and CDKN2A R58X are described as potentially targetable alterations, suggesting their role in tumor development or progression, which supports oncogenic evidence.

Gene→Variant (gene-first): 5290:E545K 1029:R58X

Genes: 5290 1029

Variants: E545K R58X