2023
Watkins, J. A., Hatcher, H., Malhotra, S., Amen, F., Bruty, J., Trotman, J., Tarpey, P., & Tadross, J. A. (2023). Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm. Head and neck pathology, 10.1007/s12105-023-01526-0. Advance online publication. https://doi.org/10.1007/s12105-023-01526-0
Mavaddat, N., Ficorella, L., Carver, T., Lee, A., Cunningham, A. P., Lush, M., Dennis, J., Tischkowitz, M., Downes, K., Hu, D., Hahnen, E., Schmutzler, R. K., Stockley, T. L., Downs, G. S., Zhang, T., Chiarelli, A. M., Bojesen, S. E., Liu, C., Chung, W. K., Pardo, M., … Easton, D. F. (2023). Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, EPI-22-0756. Advance online publication. https://doi.org/10.1158/1055-9965.EPI-22-0756
De Noon, S., Piggott, R., Trotman, J., Tadross, J. A., Fittall, M., Hughes, D., Ye, H., Munasinghe, E., Murray, M., Tirabosco, R., Amary, F., Coleman, N., Watkins, J., Hubank, M., Tarpey, P., Behjati, S., & Flanagan, A. M. (2023). Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma. The Journal of pathology, 259(2), 119–124. https://doi.org/10.1002/path.6038
2022
Ellingford, J. M., Ahn, J. W., Bagnall, R. D., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D. R., Greally, J. M., Ingles, J., Krishnan, N., Lord, J., Martin, H. C., Newman, W. G., O'Donnell-Luria, A., Ramsden, S. C., Rehm, H. L., Richardson, E., … Whiffin, N. (2022). Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome medicine, 14(1), 73.
Archer, S., Fennell, N., Colvin, E., Laquindanum, R., Mills, M., Dennis, R., Stutzin Donoso, F., Gold, R., Fan, A., Downes, K., Ford, J., Antoniou, A. C., Kurian, A. W., Evans, D. G., & Tischkowitz, M. (2022). Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial. Cancers, 14(11), 2716.
Briggs, M., Das, A., Firth, H., Levine, A., Sánchez-Ramírez, S., Negm, L., Ercan, A. B., Chung, J., Bianchi, V., Jalloh, I., Phyu, P., Thorp, N., Grundy, R. G., Hawkins, C., Trotman, J., Tarpey, P., Tabori, U., Allinson, K., Murray, M. J., & Genomics England Research Consortium (2022). Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD). Neuropathology and applied neurobiology, e12862. Advance online publication.https://doi.org/10.1111/nan.12862
Zhao, Y., Gardner, E. J., Tuke, M. A., Zhang, H., Pietzner, M., Koprulu, M., Jia, R. Y., Ruth, K. S., Wood, A. R., Beaumont, R. N., Tyrrell, J., Jones, S. E., Lango Allen, H., Day, F. R., Langenberg, C., Frayling, T. M., Weedon, M. N., Perry, J., Ong, K. K., & Murray, A. (2022). Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. Genetics in medicine : official journal of the American College of Medical Genetics, S1098-3600(22)00777-8. Advance online publication. https://doi.org/10.1016/j.gim.2022.05.011
French, C. E., Dolling, H., Mégy, K., Sanchis-Juan, A., Kumar, A., Delon, I., Wakeling, M., Mallin, L., Agrawal, S., Austin, T., Walston, F., Park, S. M., Parker, A., Piyasena, C., Bradbury, K., Next Generation Children’s Project Consortium, Ellard, S., Rowitch, D. H., & Raymond, F. L. (2022). Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. HGG advances, 3(3), 100113. https://doi.org/10.1016/j.xhgg.2022.100113
Trotman, J., Armstrong, R., Firth, H. Firth, H., Trayers, C., Watkins, J., Allinson, K., Jacques, T.S., Nicholson, J.C., Burke, G.A.A., Genomics England Research Consortium, Behjati, S., Murray, M.J., Hook, C.E., Tarpey, P. The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer. Br J Cancer (2022). https://doi.org/10.1038/s41416-022-01788-5
Sagi, S. V., Joshi, H., Trotman, J., Elsey, T., Swamy, A., Rajkanna, J., Bhat, N. A., Haddadin, F., Oyibo, S. O., & Park, S. M. (2020). A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism. Endocrinology, diabetes & metabolism case reports, 2020, 20-0084. Advance online publication. https://doi.org/10.1530/EDM-20-0084
Truelove, A., Mulay, A., Prapa, M., Casey, R. T., Adler, A. I., Offiah, A. C., Poole, K., Trotman, J., Al Hasso, N., & Park, S. M. (2019). Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. American journal of medical genetics. Part A, 179(7), 1330–1337. https://doi.org/10.1002/ajmg.a.61163
Garrett, A., Loveday, C., King, L., Butler, S., Robinson, R., Horton, C., Yussuf, A., Choi, S., Torr, B., Durkie, M., Burghel, G. J., Drummond, J., Berry, I., Wallace, A., Callaway, A., Eccles, D., Tischkowitz, M., Tatton-Brown, K., Snape, K., McVeigh, T., … Cancer Variant Interpretation Group UK (CanVIG-UK) (2022). Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genetics in medicine : official journal of the American College of Medical Genetics, 24(1), 41–50. https://doi.org/10.1016/j.gim.2021.08.004
MMR: CanVIG-UK Gene-Specific Guidance. Date: 05/01/2022 Version: 1.4. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , E. Woodward, G. Evans, H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/gene-specific-recommendations)
2021
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C. (2021) Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. Genetics in Medicine, 24(3), 552-563 https://doi.org/10.1016/j.gim.2021.11.011
BRCA1/BRCA2: CanVIG-UK Gene-Specific guidance. Date: 02/12/2021 Version: 1.14. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , S. Ellard , E Baple , H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/gene-specific-recommendations)
CanVIG-UK Consensus Specification for Cancer Susceptibility Genes (CSGs) of ACGS Best Practice Guidelines for Variant Classification. Date: 06/08/2021 Version: 2.14. A Garrett , L Loong , L King , M Durkie, J. Drummond , G.J. Burghel , R. Robinson , A Callaway, I. Berry, A. Wallace , S. Ellard , E Baple , H. Hanson, C.Turnbull (https://www.cangene-canvaruk.org/canvig-uk-guidance)
Garrett, A., Durkie, M., Callaway, A., Burghel, G. J., Robinson, R., Drummond, J., Torr, B., Cubuk, C., Berry, I. R., Wallace, A. J., Ellard, S., Eccles, D. M., Tischkowitz, M., Hanson, H., Turnbull, C., & CanVIG-UK (2021). Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. Journal of medical genetics, 58(5), 297–304. https://doi.org/10.1136/jmedgenet-2020-107248
Hirayama, Y., Daniels, N. F., Evans, S., Clarke, D., Purvis, S., Oliver, C., Woodmansey, S., Staniforth, J., & Soilleux, E. J. (2021). High Prevalence of Pre-Existing Liver Abnormalities Identified Via Autopsies in COVID-19: Identification of a New Silent Risk Factor?. Diagnostics (Basel, Switzerland), 11(9), 1703. https://doi.org/10.3390/diagnostics11091703
Mensah, N. E., Sabir, A. H., Bond, A., Roworth, W., Irving, M., Davies, A. C., & Ahn, J. W. (2021). Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics, S1098-3600(21)05401-0. Advance online publication. https://doi.org/10.1016/j.gim.2021.11.021
Attygalle AD, Wren D, Dobson R, Vroobel KM, Sharma B, O’Connor S, Wotherspoon AC, Du MQ, Cunningham D, (2021). Lymphomatoid papulosis mimicking relapsed angioimmunoblastic T-cell lymphoma on histology: the importance of clinicopathologic correlation. Histopathology;78(3):470-473. https://doi.org/10.1111/his.14287. Epub 2020 Dec 8. PMID: 33098681
Chadda KR, Holland K, Scoffings D, Dean A, Pickles JC, Behjati S, Jacques TS, Trotman J, Tarpey P, Allinson K, Murray MJ; Genomics England Research Consortium, (2021). A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. Neuropathol Appl Neurobiol. 2021 Feb 3 https://doi.org/10.1111/nan.12701. Epub ahead of print. PMID: 33534137
Dobson R, Du PY, Rásó-Barnett L, Yao WQ, Chen Zi, Casa C, EI-Daly H, Farkas L, Soilleux E, Wright P, Grant JW, Rodriguez-Justo M, Follows GA, Rashed H, Wotherspoon A, Attygalle AD, Liu H, Du MQ, (2021). Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis. Haematologica 2021 Feb 11 https://doi.org/10.3324/haematol.2020.265991. Online ahead of print. PMID: 33567811
Gong C, Krupka JA, Gao J, Grigoropoulos NF, Screen M, Usheva Z, Cucco F, Mohammed M, Bornelöv S, De Los Mozos IR, Meng W, Bain A, Burke GA, Forde S, Matthews J, Beer P, Cooke S, Burton C, Campbell P, Roman E, Turner S, Ule J, Rand V, Oellerich T, Tooze R, Turner M, Du MQ, Samarajiwa S & Hodson DJ, (2021). DDX3X and DDX3Y co-operate to facilitate MYC-driven B cell lymphomas. Mol Cell, S1097-2765(21)00625-0. https://doi.org/10.1016/j.molcel.2021.07.041. Online ahead of print. PMID: 34437837
Kiesewetter B, Copie-Bergman C, Levy M, Wu F, Dupuis J, Barau C, Arcaini L, Paulli M, Lucioni M, Bonometti A, Salar A, Fernández-Rodriguez C, Piris MA, Cucco F, Dobson R, Li Y, Chen Z, Robe C, Simonitsch-Klupp I, Wotherspoon AC, Raderer M, Du MQ, (2021). Genetic characterization and clinical features of Helicobacter pylori negative gastric mucosa-associated lymphoid tissue lymphoma. Cancers 13(12):2993. https://doi.org/10.3390/cancers13122993. PMID: 34203889
Korona B, Korona D, Wotherspoon AC, Du MQ, (2021). GPR34 activation bridges lymphoepithelial lesion to genesis of salivary gland MALT lymphoma. Blood. 2021 Jun 4. https://doi.org/10.1182/blood.2020010495. Online ahead of print. PMID: 34086889
Olszewska DA, Fearon C, McGuigan C, McVeigh TP, Houlden H, Polke JM, Lawlor B, Coen R, Hutchinson M, Hutton M, Beausang A, Delon I, Brett F, Sevastou I, Seto-Salvia N, de Silva R, Lynch T, (2021). 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. Neurobiol Aging, S0197-4580(21)00171-8. doi: 10.1016/j.neurobiolaging.2021.05.010. Epub ahead of print. PMID: 34274155
Wu F, Watanabe N, Tzioni MM, Li Y, Chen Z, Cucco F, Zhang C, Noh JY, Ito K, Dobson R, Moody S, Yao W, Zhang W, Liu W, Liu H, Okosun J, Chott A, Bi Y, Chuang SS, Raderer M, Li JY, Du MQ, (2021). Thyroid MALT lymphoma: self-harm to gain T-cell help. Leukemia. 2021 May 21. https://doi.org/10.1038/s41375-021-01289-z. Online ahead of print. PMID: 34021249
Zhao Y, Stankovic S, Koprulu M, Wheeler E, Day FR, Lango Allen H, Kerrison ND, Pietzner M, Loh PR, Wareham NJ, Langenberg C, Ong KK, Perry J, (2021). GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. Nature communications, 12(1), 4178. https://doi.org/10.1038/s41467-021-24504-y. PMID: 34234147