GENETICS EDUCATIONAL PORTAL

Genomics image long large

There are a number of online educational resources relating to genetics and molecular pathology and these are freely available for NHS and UK universities members. Details below give an overview of some of the courses available which range from very basic introductory sessions to Masterclasses. The majority of courses are free for NHS healthcare professionals and university members. The resources below have been identified as resources that are most likely to be of value to the BNOS membership.

Online courses:

There are a number of courses to suit most levels, including resources such as videos and podcasts on the central Health Education England (HEE) Genomics Education Programme website:

See below for some examples of what is available.

Bitesize Genomics:

Genomics Education, Bitesize
– What is genomics?
– Where does our genome come from?

Videos for the basics e.g.,

HEE, Genomics Education

Taught courses: blended learning, up to 6 weeks, on many aspects of genomics
(funding is available for NHS healthcare professional and some limited Universities, please see website for details) e.g.,

Molecular Pathology of Cancer and Application in Diagnosis, Screening and Treatment
Pharmacogenomics and Stratified Healthcare

Genomics in Healthcare – resources tailored to profession/specialty:

Genomics in Neurology

Laboratory requirements for genomic testing:

Sample Processing and DNA Extraction –
Sample Processing and DNA Extraction: Introduction
Sample Processing and DNA Extraction: Processing Solid Tumour Samples

Tumour Assessment in the Genomic Era –
Tumour Assessment in the Genomic Era

Genomics image 2 original

References used in report interpretation:
(where freely available, direct links to papers have been included) 

Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G, Soffietti R, von Deimling A, Ellison DW. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106. PMID: 34185076; PMCID: PMC8328013

Chamberlain MC, Born D. Prognostic significance of relative 1p/19q codeletion in oligodendroglial tumors. J Neurooncol. 2015 Nov;125(2):249-51. doi: 10.1007/s11060-015-1906-y. Epub 2015 Sep 4. PMID: 26341371

Ren X, Jiang H, Cui X, Cui Y, Ma J, Jiang Z, Sui D, Lin S. Co-polysomy of chromosome 1q and 19p predicts worse prognosis in 1p/19q codeleted oligodendroglial tumors: FISH analysis of 148 consecutive cases. Neuro Oncol. 2013 Sep;15(9):1244-50. doi: 10.1093/neuonc/not092. Epub 2013 Jul 16. PMID: 23861470; PMCID: PMC3748924

Scheie D, Meling TR, Cvancarova M, Skullerud K, Mørk S, Lote K, Eide TJ, Helseth E, Beiske K. Prognostic variables in oligodendroglial tumors: a single-institution study of 95 cases. Neuro Oncol. 2011 Nov;13(11):1225-33. doi: 10.1093/neuonc/nor114. Epub 2011 Aug 19. PMID: 21856683; PMCID: PMC3199152

Stupp R, Hegi ME, Mason WP, van den Bent MJ, Taphoorn MJ, Janzer RC, Ludwin SK, Allgeier A, Fisher B, Belanger K, Hau P, Brandes AA, Gijtenbeek J, Marosi C, Vecht CJ, Mokhtari K, Wesseling P, Villa S, Eisenhauer E, Gorlia T, Weller M, Lacombe D, Cairncross JG, Mirimanoff RO; European Organisation for Research and Treatment of Cancer Brain Tumour and Radiation Oncology Groups; National Cancer Institute of Canada Clinical Trials Group. Effects of radiotherapy with concomitant and adjuvant temozolomide versus radiotherapy alone on survival in glioblastoma in a randomised phase III study: 5-year analysis of the EORTC-NCIC trial. Lancet Oncol. 2009 May;10(5):459-66. doi: 10.1016/S1470-2045(09)70025-7. Epub 2009 Mar 9. PMID: 19269895.

Gállego Pérez-Larraya J, Ducray F, Chinot O, Catry-Thomas I, Taillandier L, Guillamo JS, Campello C, Monjour A, Cartalat-Carel S, Barrie M, Huchet A, Beauchesne P, Matta M, Mokhtari K, Tanguy ML, Honnorat J, Delattre JY. Temozolomide in elderly patients with newly diagnosed glioblastoma and poor performance status: an ANOCEF phase II trial. J Clin Oncol. 2011 Aug 1;29(22):3050-5. doi: 10.1200/JCO.2011.34.8086. Epub 2011 Jun 27. PMID: 21709196

Wick W, Platten M, Meisner C, Felsberg J, Tabatabai G, Simon M, Nikkhah G, Papsdorf K, Steinbach JP, Sabel M, Combs SE, Vesper J, Braun C, Meixensberger J, Ketter R, Mayer-Steinacker R, Reifenberger G, Weller M; NOA-08 Study Group of Neuro-oncology Working Group (NOA) of German Cancer Society. Temozolomide chemotherapy alone versus radiotherapy alone for malignant astrocytoma in the elderly: the NOA-08 randomised, phase 3 trial. Lancet Oncol. 2012 Jul;13(7):707-15. doi: 10.1016/S1470-2045(12)70164-X. Epub 2012 May 10. PMID: 22578793

DeAngelis LM. Anaplastic glioma: how to prognosticate outcome and choose a treatment strategy. [corrected]. J Clin Oncol. 2009 Dec 10;27(35):5861-2. doi: 10.1200/JCO.2009.24.5985. Epub 2009 Nov 9. Erratum in: J Clin Oncol. 2010 Mar 10;28(8):1439. PMID: 19901101

van den Bent MJ, Dubbink HJ, Sanson M, van der Lee-Haarloo CR, Hegi M, Jeuken JW, Ibdaih A, Brandes AA, Taphoorn MJ, Frenay M, Lacombe D, Gorlia T, Dinjens WN, Kros JM. MGMT promoter methylation is prognostic but not predictive for outcome to adjuvant PCV chemotherapy in anaplastic oligodendroglial tumors: a report from EORTC Brain Tumor Group Study 26951. J Clin Oncol. 2009 Dec 10;27(35):5881-6. doi: 10.1200/JCO.2009.24.1034. Epub 2009 Nov 9. PMID: 19901104; PMCID: PMC2793037

Nguyen HN, Lie A, Li T, Chowdhury R, Liu F, Ozer B, Wei B, Green RM, Ellingson BM, Wang HJ, Elashoff R, Liau LM, Yong WH, Nghiemphu PL, Cloughesy T, Lai A. Human TERT promoter mutation enables survival advantage from MGMT promoter methylation in IDH1 wild-type primary glioblastoma treated by standard chemoradiotherapy. Neuro Oncol. 2017 Mar 1;19(3):394-404. doi: 10.1093/neuonc/now189. PMID: 27571882; PMCID: PMC5464302

Arita H, Yamasaki K, Matsushita Y, Nakamura T, Shimokawa A, Takami H, Tanaka S, Mukasa A, Shirahata M, Shimizu S, Suzuki K, Saito K, Kobayashi K, Higuchi F, Uzuka T, Otani R, Tamura K, Sumita K, Ohno M, Miyakita Y, Kagawa N, Hashimoto N, Hatae R, Yoshimoto K, Shinojima N, Nakamura H, Kanemura Y, Okita Y, Kinoshita M, Ishibashi K, Shofuda T, Kodama Y, Mori K, Tomogane Y, Fukai J, Fujita K, Terakawa Y, Tsuyuguchi N, Moriuchi S, Nonaka M, Suzuki H, Shibuya M, Maehara T, Saito N, Nagane M, Kawahara N, Ueki K, Yoshimine T, Miyaoka E, Nishikawa R, Komori T, Narita Y, Ichimura K. A combination of TERT promoter mutation and MGMT methylation status predicts clinically relevant subgroups of newly diagnosed glioblastomas. Acta Neuropathol Commun. 2016 Aug 8;4(1):79. doi: 10.1186/s40478-016-0351-2. PMID: 27503138; PMCID: PMC4977715

Kang SH, Park KJ, Kim CY, Yu MO, Park CK, Park SH, Chung YG. O6-methylguanine DNA methyltransferase status determined by promoter methylation and immunohistochemistry in gliosarcoma and their clinical implications. J Neurooncol. 2011 Feb;101(3):477-86. doi: 10.1007/s11060-010-0267-9. Epub 2010 Jun 17. PMID: 20556478.

Frandsen J, Orton A, Jensen R, Colman H, Cohen AL, Tward J, Shrieve DC, Suneja G. Patterns of care and outcomes in gliosarcoma: an analysis of the National Cancer Database. J Neurosurg. 2018 Apr;128(4):1133-1138. doi: 10.3171/2016.12.JNS162291. Epub 2017 Jun 16. PMID: 28621623

Killela PJ, Pirozzi CJ, Healy P, Reitman ZJ, Lipp E, Rasheed BA, Yang R, Diplas BH, Wang Z, Greer PK, Zhu H, Wang CY, Carpenter AB, Friedman H, Friedman AH, Keir ST, He J, He Y, McLendon RE, Herndon JE 2nd, Yan H, Bigner DD. Mutations in IDH1, IDH2, and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas. Oncotarget. 2014 Mar 30;5(6):1515-25. doi: 10.18632/oncotarget.1765. PMID: 24722048; PMCID: PMC4039228

Pekmezci M, Rice T, Molinaro AM, Walsh KM, Decker PA, Hansen H, Sicotte H, Kollmeyer TM, McCoy LS, Sarkar G, Perry A, Giannini C, Tihan T, Berger MS, Wiemels JL, Bracci PM, Eckel-Passow JE, Lachance DH, Clarke J, Taylor JW, Luks T, Wiencke JK, Jenkins RB, Wrensch MR. Adult infiltrating gliomas with WHO 2016 integrated diagnosis: additional prognostic roles of ATRX and TERT. Acta Neuropathol. 2017 Jun;133(6):1001-1016. doi: 10.1007/s00401-017-1690-1. Epub 2017 Mar 2. PMID: 28255664; PMCID: PMC5432658

Horbinski C. To BRAF or not to BRAF: is that even a question anymore? J Neuropathol Exp Neurol. 2013 Jan;72(1):2-7. doi: 10.1097/NEN.0b013e318279f3db. PMID: 23242278; PMCID: PMC3530158

Brandner S, von Deimling A. Diagnostic, prognostic and predictive relevance of molecular markers in gliomas. Neuropathol Appl Neurobiol. 2015 Oct;41(6):694-720. doi: 10.1111/nan.12246. Epub 2015 Jun 10. PMID: 25944653

Brandner S, Jaunmuktane Z. Neurological update: gliomas and other primary brain tumours in adults. J Neurol. 2018 Mar;265(3):717-727. doi: 10.1007/s00415-017-8652-3. Epub 2017 Nov 2. PMID: 29098416; PMCID: PMC5834564

Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, Schmieder K, Wesseling P, Mawrin C, Hasselblatt M, Louis DN, Korshunov A, Pfister S, Hartmann C, Paulus W, Reifenberger G, von Deimling A. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 2011 Mar;121(3):397-405. doi: 10.1007/s00401-011-0802-6. Epub 2011 Jan 29. PMID: 21274720.

Nakajima N, Nobusawa S, Nakata S, Nakada M, Yamazaki T, Matsumura N, Harada K, Matsuda H, Funata N, Nagai S, Nakamura H, Sasaki A, Akimoto J, Hirato J, Yokoo H. BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity. Brain Pathol. 2018 Sep;28(5):663-673. doi: 10.1111/bpa.12572. Epub 2017 Dec 5. PMID: 29105198; PMCID: PMC8028676

Haag D, Mack N, Benites Goncalves da Silva P, Statz B, Clark J, Tanabe K, Sharma T, Jäger N, Jones DTW, Kawauchi D, Wernig M, Pfister SM. H3.3-K27M drives neural stem cell-specific gliomagenesis in a human iPSC-derived model. Cancer Cell. 2021 Mar 8;39(3):407-422.e13. doi: 10.1016/j.ccell.2021.01.005. Epub 2021 Feb 4. PMID: 33545065

Korshunov A, Capper D, Reuss D, Schrimpf D, Ryzhova M, Hovestadt V, Sturm D, Meyer J, Jones C, Zheludkova O, Kumirova E, Golanov A, Kool M, Schüller U, Mittelbronn M, Hasselblatt M, Schittenhelm J, Reifenberger G, Herold-Mende C, Lichter P, von Deimling A, Pfister SM, Jones DT. Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity. Acta Neuropathol. 2016 Jan;131(1):137-46. doi: 10.1007/s00401-015-1493-1. PMID: 26482474.

Brat DJ, Aldape K, Colman H, Holland EC, Louis DN, Jenkins RB, Kleinschmidt-DeMasters BK, Perry A, Reifenberger G, Stupp R, von Deimling A, Weller M. cIMPACT-NOW update 3: recommended diagnostic criteria for “Diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV”. Acta Neuropathol. 2018 Nov;136(5):805-810. doi: 10.1007/s00401-018-1913-0. Epub 2018 Sep 26. PMID: 30259105; PMCID: PMC6204285

Shirahata M, Ono T, Stichel D, Schrimpf D, Reuss DE, Sahm F, Koelsche C, Wefers A, Reinhardt A, Huang K, Sievers P, Shimizu H, Nanjo H, Kobayashi Y, Miyake Y, Suzuki T, Adachi JI, Mishima K, Sasaki A, Nishikawa R, Bewerunge-Hudler M, Ryzhova M, Absalyamova O, Golanov A, Sinn P, Platten M, Jungk C, Winkler F, Wick A, Hänggi D, Unterberg A, Pfister SM, Jones DTW, van den Bent M, Hegi M, French P, Baumert BG, Stupp R, Gorlia T, Weller M, Capper D, Korshunov A, Herold-Mende C, Wick W, Louis DN, von Deimling A. Novel, improved grading system(s) for IDH-mutant astrocytic gliomas. Acta Neuropathol. 2018 Jul;136(1):153-166. doi: 10.1007/s00401-018-1849-4. Epub 2018 Apr 23. PMID: 29687258

Appay R, Dehais C, Maurage CA, Alentorn A, Carpentier C, Colin C, Ducray F, Escande F, Idbaih A, Kamoun A, Marie Y, Mokhtari K, Tabouret E, Trabelsi N, Uro-Coste E, Delattre JY, Figarella-Branger D; POLA Network. CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas. Neuro Oncol. 2019 Dec 17;21(12):1519-1528. doi: 10.1093/neuonc/noz124. PMID: 31832685; PMCID: PMC7145561

Updated: January 2022