Miriam J. Smith
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View article: Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies
Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies Open
The three major schwannomatosis genes, NF2 , LZTR1 and SMARCB1 , are all located within approximately 9 megabases on chromosome 22 and cause three genetically distinct conditions with significant clinical phenotypic overlap. All forms of s…
View article: A novel PTCH1 non-canonical splice region variant associated with Gorlin syndrome: case report
A novel PTCH1 non-canonical splice region variant associated with Gorlin syndrome: case report Open
Introduction: Gorlin syndrome (GS) is a rare autosomal dominant condition that predisposes to cutaneous basal cell carcinomas, jaw keratocysts, and skeletal anomalies. Most patients with GS have a heterozygous pathogenic variant in the PTC…
View article: High-Dimensional Imaging of Vestibular Schwannoma Reveals Distinctive Immunological Networks Across Histomorphic Niches in<i>NF2</i>-related Schwannomatosis
High-Dimensional Imaging of Vestibular Schwannoma Reveals Distinctive Immunological Networks Across Histomorphic Niches in<i>NF2</i>-related Schwannomatosis Open
NF2 -related Schwannomatosis ( NF2 SWN) is a rare tumour-predisposition syndrome characterised by the growth of multiple central and peripheral nervous system neoplasms. The drivers of NF2 SWN are pathogenic variants in the tumour suppress…
View article: Registry-derived stage (RD-Stage) for capturing cancer stage at diagnosis for endometrial cancer
Registry-derived stage (RD-Stage) for capturing cancer stage at diagnosis for endometrial cancer Open
Background Capture of cancer stage at diagnosis is important yet poorly reported by health services to population-based cancer registries. In this paper we describe current completeness of stage information for endometrial cancer available…
View article: Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing Open
In order to detect higher PV rates on a population basis the best strategy is to reduce the MS threshold for genetic testing.
View article: Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent Open
Correction to: Genetics in Medicine 2023; https://doi.org/10.1016/j.gim.2023.100846, published online 12 April 2023. In the article "Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of …
View article: Validation of lung cancer polygenic risk scores in a high-risk case-control cohort
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort Open
PRSs may improve LC risk prediction and screening selection. Further research, particularly examining clinical utility and cost-effectiveness, is required.
View article: The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis
The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis Open
NF2-schwannomatosis is the most common genetic predisposition syndrome associated with meningioma. Meningioma in NF2-schwannomatosis is a major source of morbidity and mortality. This is due to accumulative tumor burden in patients with sy…
View article: Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 Open
Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MB SHH subtype specifically…
View article: Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21 Open
Vestibular schwannomas are benign nerve sheath tumours that arise on the vestibulocochlear nerves. Vestibular schwannomas are known to occur in the context of tumour predisposition syndromes NF2-related and LZTR1-related schwannomatosis. H…
View article: Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 Open
Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function (LoF), predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifi…
View article: Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome Open
Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linke…
View article: Cancer risk and tumour spectrum in 172 patients with a germline <i>SUFU</i> pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
Cancer risk and tumour spectrum in 172 patients with a germline <i>SUFU</i> pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group Open
Background Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. Methods To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients wit…
View article: Screening of potential novel candidate genes in schwannomatosis patients
Screening of potential novel candidate genes in schwannomatosis patients Open
Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most …
View article: Comparison of the frequency of loss‐of‐function <i>LZTR1</i> variants between schwannomatosis patients and the general population
Comparison of the frequency of loss‐of‐function <i>LZTR1</i> variants between schwannomatosis patients and the general population Open
Schwannomatosis is a rare tumor predisposition syndrome that causes multiple schwannomas. Germline loss-of-function (LoF) LZTR1 variants were only recently identified as disease-causing, so relatively few variants have been identified in p…
View article: Re‐evaluation of missense variant classifications in <i>NF2</i>
Re‐evaluation of missense variant classifications in <i>NF2</i> Open
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary…
View article: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition Open
Background Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linke…
View article: CTNI-54. A SINGLE ARM PHASE II STUDY OF THE DUAL MTORC1/MTORC2 INHIBITOR VISTUSERTIB PROVIDED FOR SPORADIC PATIENTS WITH GRADE II-III MENINGIOMAS THAT RECUR OR PROGRESS AFTER SURGERY AND RADIATION
CTNI-54. A SINGLE ARM PHASE II STUDY OF THE DUAL MTORC1/MTORC2 INHIBITOR VISTUSERTIB PROVIDED FOR SPORADIC PATIENTS WITH GRADE II-III MENINGIOMAS THAT RECUR OR PROGRESS AFTER SURGERY AND RADIATION Open
Grade II/III meningiomas have increased rates of recurrence with no approved medical therapies. The historical progression-free survival at 6 months (PFS-6) is 25% with rates >35% declared of interest for drug development. NF2 gene inac…
View article: Dominant‐negative pathogenic variant <scp>BRIP1</scp> c. <scp>1045G</scp> >C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study
Dominant‐negative pathogenic variant <span>BRIP1</span> c. <span>1045G</span> >C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study Open
BRIP1 is a moderate susceptibility epithelial ovarian cancer (EOC) gene. Having identified the BRIP1 c.1045G>C missense variant in a number of families with EOC, we aimed to investigate the frequency of this and BRIP1 .2392C>T pathogenic v…