Browsing by author "McVeigh, Terri"
Now showing items 1-19 of 19
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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska, DA; Fearon, C; McGuigan, C; McVeigh, TP; Houlden, H; et al. (ELSEVIER SCIENCE INC, 2021-10-01)We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome ... -
A Review of Breast Cancer Risk Factors in Adolescents and Young Adults.
McVeigh, UM; Tepper, JW; McVeigh, TP (MDPI, 2021-11-05)Cancer in adolescents and young adults (AYAs) deserves special consideration for several reasons. AYA cancers encompass paediatric malignancies that present at an older age than expected, or early-onset of cancers that are ... -
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz, S; O'Sullivan, H; Heelan, K; Alam, A; McVeigh, TP (SPRINGER, 2022-11-23)A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad ... -
Effectiveness of contrast-associated acute kidney injury prevention methods; a systematic review and network meta-analysis.
Ahmed, K; McVeigh, T; Cerneviciute, R; Mohamed, S; Tubassam, M; et al. (BMC, 2018-11-13)BACKGROUND: Different methods to prevent contrast-associated acute kidney injury (CA-AKI) have been proposed in recent years. We performed a mixed treatment comparison to evaluate and rank suggested interventions. METHODS: ... -
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.
McCluggage, WG; Apellaniz-Ruiz, M; Chong, A-L; Hanley, KZ; Velázquez Vega, JE; et al. (LIPPINCOTT WILLIAMS & WILKINS, 2020-06-01)DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report a primary ovarian and 2 primary fallopian tube ... -
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome.
Dawson, H; Smrke, A; Ellery, PM; Wilkinson, N; Rosenthal, AN; et al. (SPRINGER, 2021-09-15)PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, ... -
Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)
Cullinan, N; Capra, M; McVeigh, TP (SPRINGERNATURE, 2020-06-01) -
Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.
Grochot, R; Carreira, S; Miranda, S; Figueiredo, I; Bertan, C; et al. (ELSEVIER, 2023-06-01)BACKGROUND: Germline mutations in the ataxia telangiectasia mutated (ATM) gene occur in 0.5-1% of the overall population and are associated with tumour predisposition. The clinical and pathological features of ATM-mutated ... -
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong, L; Huntley, C; McRonald, F; Santaniello, F; Pethick, J; et al. (BMJ PUBLISHING GROUP, 2022-12-26)OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the ... -
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Speight, B; Hanson, H; Turnbull, C; Hardy, S; Drummond, J; et al. (WILEY, 2023-02-06)The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to ... -
KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.
Brodey, A; Kounnis, V; Hawkes, L; Jones, RL; McVeigh, TP; et al. (OXFORD UNIV PRESS, 2022-08-05)Sporadic gastrointestinal stromal tumors (GIST) are rare tumors, with a median age at diagnosis of 60 years. Familial GISTs are very rare and typically associated with earlier onset, with an average age at diagnosis of 48 ... -
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Clark, A; Thomas, S; Hamblin, A; Talley, P; Kulasekararaj, A; et al. (WILEY, 2023-04-01)Germline predisposition to haematological cancers is increasingly being recognised. Widespread adoption of high-throughput and whole genome sequencing is identifying large numbers of causative germline mutations. Constitutional ... -
Mixed Reality Platforms in Telehealth Delivery: Scoping Review
Worlikar, H; Coleman, S; Kelly, J; O’Connor, S; Murray, A; et al. (JMIR Publications Inc., 2023-03-24)<jats:sec> <jats:title>Background</jats:title> <jats:p>The distinctive features of the digital reality platforms, namely augmented reality (AR), virtual reality (VR), and mixed reality (MR) have ... -
Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services.
Moss, CA; Cojocaru, E; Hanwell, J; Ward, S; Xu, W; et al. (ELSEVIER SCI LTD, 2019-06-01)BACKGROUND: Molecular aberrations in cancer may represent therapeutic targets, and, if arising from the germline, may impact further cancer risk management in patients and their blood relatives. Annually, 600-700 patients ... -
MUTYH-Associated Polyposis: The Irish Experience>.
McVeigh, TP; Duff, M; Carroll, C; O'Shea, R; Bradley, L; et al. (2016-12-12)MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common ... -
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; et al. (ELSEVIER SCIENCE INC, 2022-01-01)PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. ... -
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen, S; Loong, L; Garrett, A; Torr, B; Durkie, M; et al. (BMJ PUBLISHING GROUP, 2024-03-21)BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level ... -
The role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials.
McVeigh, TP; Sundar, R; Diamantis, N; Kaye, SB; Banerji, U; et al. (ELSEVIER SCI LTD, 2018-05-01)INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15-39 years may harbour germline variants associated with cancer predisposition. Such variants represent putative therapeutic targets, ... -
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson, H; Durkie, M; Lalloo, F; Izatt, L; McVeigh, TP; et al. (BMJ PUBLISHING GROUP, 2022-03-08)SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with ...