Search Results - "McVeigh, Terri"

A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing by Bracke, Xavier, Roberts, Jonathan, McVeigh, Terri P.

“…Pathogenic variants in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer. Individuals with identified pathogenic variants in the BRCA1…”
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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 by Speight, Beverley, Hanson, Helen, Turnbull, Clare, Hardy, Steven, Drummond, James, Khorashad, Jamshid, Wragg, Christopher, Page, Paula, Parkin, Nicholas W., Rio‐Machin, Ana, Fitzgibbon, Jude, Kulasekararaj, Austin Gladston, Hamblin, Angela, Talley, Polly, McVeigh, Terri P., Snape, Katie

“…Summary The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of…”
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KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management by Brodey, Alexandra, Kounnis, Valentinos, Hawkes, Lara, Jones, Robin L, McVeigh, Terri P, Cojocaru, Elena

“…Abstract Sporadic gastrointestinal stromal tumors (GIST) are rare tumors, with a median age at diagnosis of 60 years. Familial GISTs are very rare and…”
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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review by Aziz, Shahram, O’Sullivan, Hazel, Heelan, Kara, Alam, Afrina, McVeigh, Terri P.

“…A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help…”
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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) by Clark, Andrew, Thomas, Sally, Hamblin, Angela, Talley, Polly, Kulasekararaj, Austin, Grinfeld, Jacob, Speight, Beverley, Snape, Katie, McVeigh, Terri P., Snowden, John A.

“…Summary Germline predisposition to haematological cancers is increasingly being recognised. Widespread adoption of high‐throughput and whole genome sequencing…”
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Clinical use of the Oncotype DX genomic test to guide treatment decisions for patients with invasive breast cancer by McVeigh, Terri P, Kerin, Michael J

“…Implementation of the Oncotype DX assay has led to a change in the manner in which chemotherapy is utilized in patients with early stage, estrogen receptor…”
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Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations by McCluggage, W. Glenn, Apellaniz-Ruiz, Maria, Chong, Anne-Laure, Hanley, Krisztina Z., Velázquez Vega, Jose E., McVeigh, Terri P., Foulkes, William D.

“…DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma…”
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A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer by Cui, Wanyuan, Milner-Watts, Charlotte, McVeigh, Terri P., Minchom, Anna, Bholse, Jaishree, Davidson, Michael, Yousaf, Nadia, MacMahon, Suzanne, Mugalaasi, Hood, Gunapala, Ranga, Lee, Richard, George, Angela, Popat, Sanjay, O'Brien, Mary

“…•Blood-first NGS for suspected NSCLC led to timely treatment decisions during COVID19.•22% of patients commenced targeted therapy based on cfDNA NGS without…”
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Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) by Wade, Isaac, Witkowski, Leora, Ahmed, Afrida, Rowlands, Charlie F., Banerjee, Susana, Pressey, Joseph G., McVeigh, Terri P., Tischkowitz, Marc D., Foulkes, William D., Turnbull, Clare

“…Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an extremely rare, highly aggressive cancer (mean age of onset, 24 years). Nearly all cases…”
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Sleep disordered breathing in children with Down syndrome in the Republic of Ireland by Diskin, Catherine, McVeigh, Terri P., Cox, Des W.

“…Down syndrome (DS) is associated with a complex respiratory phenotype, including obstructive sleep apnea syndrome (OSAS). The study explored parent‐reported…”
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Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer by Grochot, Rafael, Carreira, Suzanne, Miranda, Susana, Figueiredo, Ines, Bertan, Claudia, Rekowski, Jan, Yuan, Wei, Ferreira, Ana, Riisnaes, Ruth, Neeb, Antje, Gurel, Bora, de Los Dolores Fenor de la Maza, Maria, Guo, Christina, Carmichael, Juliet, Westaby, Daniel, Mateo, Joaquin, Sharp, Adam, McVeigh, Terri P., De Bono, Johann

“…Features of germline ATM mutation–associated prostate cancers remain inadequately described. Beyond serving as a potential prognostic biomarker, ATM loss of…”
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Corrigendum to: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823–10 G>T at the intron 9/exon 10 of the MAPT gene by Olszewska, Diana A., Fearon, Conor, McGuigan, Christopher, McVeigh, Terri P., Houlden, Henry, Polke, James M., Lawlor, Brian, Coen, Robert, Hutchinson, Michael, Hutton, Michael, Beausang, Alan, Delon, Isabelle, Brett, Francesca, Sevastou, Ioanna, Seto-Salvia, Nuria, de Silva, Rohan, Lynch, Tim

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Postgraduate training in Cancer Genetics—a cross-specialty survey exploring experience of clinicians in Ireland by McHugh, Jana K, Offiah, Gozie, Daly, Sean, El Beltagi, Nazmy, Barry, Michael Kevin, O’Reilly, Seamus, McVeigh, Terri P

“…Background As genomic profiling of constitutional and tumour-derived DNA becomes increasingly critical in cancer risk estimation, prognostication and…”
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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 by Olszewska, Diana A., Fearon, Conor, McGuigan, Christopher, McVeigh, Terri P, Houlden, Henry, Polke, James M, Lawlor, Brian, Coen, Robert, Hutchinson, Michael, Hutton, Michael, Beausang, Alan, Delon, Isabelle, Brett, Francesca, Sevastou, Ioanna, Seto-Salvia, Nuria, de Silva, Rohan, Lynch, Tim

“…•c.823-10G>T Microtubule associated tau (MAPT) gene variant was reported in one family with frontotemporal dementia.•No pathological data was available…”
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Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome by Foo, Tiffany, Nama, Vivek, Attygalle, Ayoma D., Williams, Jonathan, Heelan, Kara, Butler, Samantha, McVeigh, Terri P.

“…FH Tumour Predisposition Syndrome, also known as Hereditary Leiomyomatosis and renal cell cancer (HLRCC), or Reed Syndrome, is an autosomal dominant condition…”
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Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome by Dawson, Hannah, Smrke, Alannah, Ellery, Peter M., Wilkinson, Nafisa, Rosenthal, Adam N., McVeigh, Terri P.

“…PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of…”
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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey by Allen, Sophie, Loong, Lucy, Garrett, Alice, Torr, Bethany, Durkie, Miranda, Drummond, James, Callaway, Alison, Robinson, Rachel, Burghel, George J, Hanson, Helen, Field, Joanne, McDevitt, Trudi, McVeigh, Terri P, Bedenham, Tina, Bowles, Christopher, Bradshaw, Kirsty, Brooks, Claire, Butler, Samantha, Del Rey Jimenez, Juan Carlos, Hawkes, Lorraine, Stinton, Victoria, MacMahon, Suzanne, Owens, Martina, Palmer-Smith, Sheila, Smith, Kenneth, Tellez, James, Valganon-Petrizan, Mikel, Waskiewicz, Erik, Yau, Michael, Eccles, Diana M, Tischkowitz, Marc, Goel, Shilpi, McRonald, Fiona, Antoniou, Antonis C, Morris, Eva, Hardy, Steven, Turnbull, Clare

“…National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of…”
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UK recommendations for SDHA germline genetic testing and surveillance in clinical practice by Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P, Cook, Jackie A, Brewer, Carole, Drummond, James, Butler, Samantha, Cranston, Treena, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M, Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin, Maher, Eamonn R

“…pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type…”
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Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans by Casey, Ruth T, McLean, Mary A, Challis, Benjamin G, McVeigh, Terri P, Warren, Anne Y, Mendil, Lee, Houghton, Richard, De Sanctis, Stefano, Kosmoliaptsis, Vasilis, Sandford, Richard N, Gallagher, Ferdia A, Maher, Eamonn R

“…Inherited pathogenic variants in genes encoding the metabolic enzymes succinate dehydrogenase (SDH) and fumarate hydratase predispose to tumor development…”
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Non-invasive Technology Advances in Cancer—A Review of the Advances in the Liquid Biopsy for Endometrial and Ovarian Cancers by Openshaw, Mark R., McVeigh, Terri P.

“…Improving cancer survival rates globally requires improvements in disease detection and monitoring, with the aim of improving early diagnosis and prediction of…”
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