Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Autor: Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice ^{1, 2}, Allen, Sophie ¹, Durkie, Miranda ³, Burghel, George J. ⁴, Robinson, Rachel ⁵, Callaway, Alison ⁶, Field, Joanne ⁷, Frugtniet, Bethan ², Palmer-Smith, Sheila ⁸, Grant, Jonathan ⁹, Pagan, Judith ¹⁰, McDevitt, Trudi ¹¹, Rowlands, Charlie F. ¹, McVeigh, Terri ¹², Hanson, Helen ^{1, 13, 14}, Turnbull, Clare ^{1, 12, ∗}

Publikováno v: In Genetics in Medicine February 2025 27(2)

European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer

Autor: Vergote, I., Ausems, M., Brasiuniene, B., Brenton, J., Büttner, R., Colombo, N., González-Martín, A., Harter, P., Lambrechts, D., Lorusso, D., Madry, R., Mirza, M.R., Pujol, P., Ray-Coquard, I., Abreu, M., Balboni, S., Banerjee, S., Barberis, M., Barretina Ginesta, M.P., Baurain, J.-F., Bignami, M., Bjorge, L., Blecharz, P., Bruchim, I., Capilna, M., Cerana, N., Cicchetti, A., Collins, D., Concin, N., D’Incalci, M., Davidson, B., de la Motte Rouge, T., De Iaco, P., Demirkiran, F., Denys, H., Doerk, T., Dorum, A., Ferrero, A., Fidalgo, A.P., Genuardi, M., Gladieff, L., Glasspool, R., Grimm, C., Gultekin, M., Hahnen, E., Hasenburg, A., Hegmane, A., Heinzelmann, V., Hogdall, E., Janavicius, R., Jarmalaite, S., Kalachand, R., Kaneva, R., Kilickap, S., Kocian, R., Kolencik, D., Kristeleit, R., Kryzhanivska, A., Leary, A., Lemley, B., Ligtenberg, M., López-Guerrero, J.A., Lord, C.J., Avall-Lundqvist, E., Maenpaa, J., Mahner, S., Marmé, F., Marth, C., McNeish, I., Merkelbach-Bruse, S., Mourits, M., Normanno, N., Oaknin, A., Ojamaa, K., Papdimitriou, C., Penault-Llorca, F., Perrone, A.M., Pignata, S., Pikarsky, E., Rouleau, E., Rubio, M., Sapino, A., Schmalfeldt, B., Sehouli, J., Shapira, R., Steffensen, K.D., Sukhin, V., Syrios, J., Szallasi, Z., Taskiran, C., Terzic, M., Tischkowitz, M., Toth, I., Van de Vijver, K., Vardar, M.A., Wasag, B., Wimberger, P., Witteveen, E., Brenton, J.D., Ausems, M.G.E.M.

Publikováno v: In Annals of Oncology March 2022 33(3):276-287

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Autor: Pal T; Department of Medicine, Vanderbilt University Medical Center/Vanderbilt-Ingram Cancer Center, Nashville, TN., Schon KR; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Astiazaran-Symonds E; Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Hospital Campus, Barcelona, Spain., Foulkes WD; Departments of Human Genetics, Oncology and Medicine, McGill University, Montréal, Québec, Canada., James P; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Klugman S; Division of Reproductive & Medical Genetics, Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY., Livinski AA; National Institutes of Health Library, Office of Research Services, OD, NIH, Bethesda, MD., Mak JS; University of California San Francisco Helen Diller Family Comprehensive Cancer Center, San Francisco, CA., Ngeow J; Genomic Medicine, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore., Voian N; Providence Genetic Risk Clinic, Providence Cancer Institute, Portland, OR., Wick MJ; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, MN., Hanson H; Peninsula Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, United Kingdom., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec 04, pp. 101243. Date of Electronic Publication: 2024 Dec 04.

Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Autor: Li S; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Madanat-Harjuoja L; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Finnish Cancer Registry, Helsinki, Finland., Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Barnes DR; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Parsons MT; Public Health Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Apostolou P; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Bosse K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., On Behalf Of Embrace Collaborators ACA; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Evans DG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Gehrig A; Department of Human Genetics, University Würzburg, Würzburg, Germany., Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Harbeck N; Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany., Hauke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Hentschel J; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Izatt L; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Kiechle M; Department of Gynaecology and Obstetrics, University Hospital Klinikum rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Yie JNY; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.; Cancer Genetics Service, National Cancer Centre, Singapore., Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Ritter J; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany., Santamariña M; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Searle C; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada., Tripathi V; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Vega A; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., Wallaschek H; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Weber BHF; Institute of Human Genetics, University Regensburg, Regensberg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Zhao E; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Chenevix-Trench G; Cancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Rebbeck TR; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Dana-Farber Cancer Institute, Boston, MA, USA., Diller LR; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

Publikováno v: Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Nov 25. Date of Electronic Publication: 2024 Nov 25.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Autor: Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA. Electronic address: mrichardson@ambrygen.com., Holdren M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Brannan T; Ambry Genetics, Aliso Viejo, CA, USA., de la Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, 28040 Madrid, Spain., Spurdle AB; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Tavtigian SV; Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA., Young CC; Ambry Genetics, Aliso Viejo, CA, USA., Zec L; Natera, Inc, San Carlos, CA, USA., Hiraki S; GeneDx, Gaithersburg, MD, USA., Anderson MJ; Invitae Corporation, San Francisco, CA, USA., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., McNulty S; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Turnbull C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, UK., Schon K; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, UK., Slavin T; City of Hope Comprehensive Cancer Center, Duarte, CA, USA., Foulkes WD; Departments of Human Genetics, McGill University, Montreal, QC, Canada., Cline M; UC Santa Cruz Genomics Institute, Mail Stop: Genomics, University of California, Santa Cruz, Santa Cruz, CA, USA., Monteiro AN; Department of Cancer Epidemiology, H Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: couch.fergus@mayo.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2411-2426. Date of Electronic Publication: 2024 Sep 23.