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Endocrine neoplasms v1.12 EGFR Eleanor Williams Classified gene: EGFR as Amber List (moderate evidence)
Endocrine neoplasms v1.12 EGFR Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. More than one case of patient with ACC and germline variants in EGFR. But no family history/segregation data to further confirm the disease association.
Endocrine neoplasms v1.12 EGFR Eleanor Williams Gene: egfr has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.11 EGFR Eleanor Williams changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Sources: Literature
Endocrine neoplasms v1.11 EGFR Eleanor Williams gene: EGFR was added
gene: EGFR was added to Endocrine neoplasms. Sources: Literature
Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EGFR were set to 33326033
Phenotypes for gene: EGFR were set to Adrenocortical carcinoma
Review for gene: EGFR was set to AMBER
Added comment: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature