Hilary Racher
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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: 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: Cytogenetic Abnormalities for Predicting the Risk of Metastases in Choroidal and Ciliary Body Melanoma
Cytogenetic Abnormalities for Predicting the Risk of Metastases in Choroidal and Ciliary Body Melanoma Open
Specific cytogenetic abnormalities - including chromosome 8p loss, 1p loss, and monosomy 3 - are independent risk factors for distant metastasis in uveal melanoma. Larger tumor size at presentation and monosomy 3 contribute to a higher met…
View article: Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity <i>RB1</i> germline deletion
Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity <i>RB1</i> germline deletion Open
The clinical course of trilateral retinoblastoma can be unpredictable, and expressivity of germline RB1 variants may vary during development. We describe an unexpected fatal case of trilateral retinoblastoma with an intracranial tumor in a…
View article: ICE volume 42 issue 11 Cover and Front matter
ICE volume 42 issue 11 Cover and Front matter Open
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View article: Detection of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in outpatients: A multicenter comparison of self-collected saline gargle, oral swab, and combined oral–anterior nasal swab to a provider collected nasopharyngeal swab
Detection of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in outpatients: A multicenter comparison of self-collected saline gargle, oral swab, and combined oral–anterior nasal swab to a provider collected nasopharyngeal swab Open
Background: Widespread testing for severe acute respiratory coronavirus virus 2 (SARS-CoV-2) is necessary to curb the spread of coronavirus disease 2019 (COVID-19), but testing is undermined when the only option is a nasopharyngeal swab. S…
View article: Detection of SARS-CoV-2 from Saliva as Compared to Nasopharyngeal Swabs in Outpatients
Detection of SARS-CoV-2 from Saliva as Compared to Nasopharyngeal Swabs in Outpatients Open
Widely available and easily accessible testing for COVID-19 is a cornerstone of pandemic containment strategies. Nasopharyngeal swabs (NPS) are the currently accepted standard for sample collection but are limited by their need for collect…
View article: Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice
Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice Open
Background: Muir-Torre syndrome (MTS) is defined clinically as the association of cutaneous sebaceous neoplasm and visceral malignancy. Ancillary tests are considered crucial for diagnosis. Although screening guidelines for M…
View article: Supplementary Material for: Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice
Supplementary Material for: Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice Open
Background: Muir-Torre syndrome (MTS) is defined clinically as the association of cutaneous sebaceous neoplasm and visceral malignancy. Ancillary tests are considered crucial for diagnosis. Although screening guidelines for M…
View article: Abstract 3771: Oncogenes and tumour-suppressors drive differential retinoblastoma evolution
Abstract 3771: Oncogenes and tumour-suppressors drive differential retinoblastoma evolution Open
Unlike any other tumour type, retinoblastomas can be driven by only two tumour-initiating events: bi-allelic loss of the tumour suppressor RB1 or amplification of the MYCN oncogene. These mutations drive morphologically indistinguishable t…
View article: Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma
Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma Open