Jaime Jessen
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View article: Canadian consensus for the assessment and testing of Lynch syndrome
Canadian consensus for the assessment and testing of Lynch syndrome Open
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome caused by a germline pathogenic variant, or epigenetic silencing, of a mismatch repair (MMR) gene, leading to a wide cancer spectrum with gene-specific …
View article: Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case–control study
Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case–control study Open
View article: Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 Open
The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and di…
View article: Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 Open
The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and di…
View article: P101: Confirmation of MYCN amplification as the cause for retinoblastoma eliminates risks for RB related cancers in proband and family members
P101: Confirmation of MYCN amplification as the cause for retinoblastoma eliminates risks for RB related cancers in proband and family members Open
While the majority of Retinoblastoma (RB) is caused by biallelic inactivation of the RB1 gene, approximately 1.5% of RB occurs as a result of MYCN gene amplification. Unlike RB1 pathogenic variants, which are present in constitutional cell…
View article: P122: Retinoblastoma discordant monozygotic twins and the discovery of an intron 15 RB1 variant
P122: Retinoblastoma discordant monozygotic twins and the discovery of an intron 15 RB1 variant Open
In most families with heritable retinoblastoma (RB), all individuals who inherit the pathogenic RB1 variant develop tumors in both eyes (complete penetrance). As such, instances of monozygotic twins harboring germline RB1 variants would ge…
View article: P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes
P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes Open
Identification of families with hereditary cancer syndromes is crucial for providing risk assessment, risk reduction and personalized cancer treatment options. Although BRCA1/2 pathogenic variants constitute a significant percentage of det…
View article: MRI Features for Identifying <i>MYCN</i> -amplified <i>RB1</i> Wild-type Retinoblastoma
MRI Features for Identifying <i>MYCN</i> -amplified <i>RB1</i> Wild-type Retinoblastoma Open
Background MYCN-amplified RB1 wild-type (MYCNARB1+/+) retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to …