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In order to ensure appropriate topics are selected for, and appropriate key stakeholders are invited to, UKCGG national consensus meetings, as well as to facilitate efficient running of such meetings, we have developed a standard operating procedure. Please find this document here below.
The UKCGG and the CanGene-CanVar programme recently held a national consensus regarding use of CanRisk in clinical practice, involving key stakeholders from across the country. The meeting was held on May 16th 2023 at the Marriot Hotel in Leeds.
The aims of the meeting were to:
Please click on the links below to access background information, agenda, and slides from talks given by experts on the day.
Please find slides here below, kindly shared by the speakers.
Because of potential therapeutic implications, and expanding access to treatment with or clinical trials involving checkpoint inhibition, assessment of mismatch repair status of a wide range of tumours, including typical Lynch Syndrome-associated cancers as well as cancers that are less likely to be associated with Lynch Syndrome, is increasing. This is usually undertaken by immunohistochemistry testing to assess for expression of MMR proteins, or by microsatellite instability testing. As per current best practice guidelines, further testing is usually recommended to clarify the aetiology of dMMR when it is identified. This pathway is complex and multistep and can comprise somatic BRAF testing, tumour-based and/or constitutional MLH1 promoter hypermethylation testing, germline MMR gene testing (which may/may not include long-range PCR of PMS2) and tumour-based MMR gene testing +/- loss of heterozygosity testing. The term "Lynch-like Syndrome" has traditionally been applied where the aetiology of dMMR has not been identified, to direct colonoscopic screening in the proband in whom cancer has been identified, as well as their first-degree family members - to safeguard against a potentially missed germline genetic variant predisposing to colorectal cancer risk in that family. However, while enhanced colonoscopic screening may be appropriate where clinical suspicion of a heritable predisposition to colorectal cancer is high, this may represent over-investigation in those families where the likelihood of dMMR being due to Lynch Syndrome is low, even in the setting of "unexplained dMMR".
Following anecdotal observations of variability in the extent to which aetiology of dMMR was being investigated, and in the management of families where unexplained dMMR cancer has been identified, a UK Cancer Genetics Group national MDT was held on the topic, led by colleagues in South East Scotland Clinical Genetics service.
Further to that meeting, we held a national consensus meeting on 25th April 2023. In advance of the meeting, a survey was circulated to get a snapshot of practice across the UK. At the meeting, we presented the outcome of that survey, as well as an overview of the discussion at the national MDT, and a number of invited expert speakers provided an overview of testing strategies in different tumour types, and an overview of the history of "Lynch like Syndrome".
Thereafter, a number of polls were run in real-time to try to generate consensus about extent of investigation and screening in these families.
Please find agenda and presentation slides here below. A summary of outputs and recording of meeting will follow in due course.
Please find slides here below, kindly shared by the speakers. A recording of the session will follow.
On 16th and 17th March 2023, representatives from UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded-CanGene-CanVar programme and Association of Genetic Nurse Counsellors (AGNC) held a hybrid two-day meeting, with invited key stakeholders, including patient representatives. The aim of the meeting was view to generate best practice consensus guidelines regarding co-design of patient information leaflets for germline cancer susceptibility genetic testing.
Lynch syndrome and haematological malignancies were chosen as exemplar conditions.
Please find copies of the agenda and presentations here below. A summary of outputs arising from the meeting will follow.
The UK CGG & Central & South GMSA virtual Consensus meeting regarding tthe Management of Transgender and Gender Diverse Patients with Inherited Cancer Risks was held on 6th-7th October 2022.
The documents here below were made available to attendees in advance of the meeting:
1. Background Reading - a background of the key information which will be discussed in the meeting
2. Inherited Cancer Predisposition - a lay summary of cancer genetics for those without a background in genetics or cancer
3. Additional Resources - a list of websites, organisations, and contacts which may be helpful resources
Please see below for recordings of presentations from expert speakers delivered during the consensus meeting. Please note the recording of the presentation regarding gender-affirming surgery was started late, so is missing the introductory slides.
Please click on the link below to download a PowerPoint outlining results of in-meeting polls. A formal summary document will follow in due course.
Click on the link below to access published guidance arising from this meeting.
UK recommendations for the management of transgender and gender-diverse patients with inherited cancer risks. Giblin, J, Coad, B, Lamb, C, Berlin, C, Rea, G, Hanson, H, Snape, K, Berner, A, BJC Reports 2023; https://doi.org/10.1038/s44276-023-00002-0
Over the course of the session, we had talks from a number of experts. Given the nature of rare disease, the unique nature of the case studies described in some of the presentations are such that they may be identifiable, and therefore were not recorded. Those talks not including any patient-related information were recorded. Please see links to the recordings to these talks here below.
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 haematological malignancy for which a national consensus on clinical management pathways is required for both the affected individual and their relatives.
The UKCGG, CanGene-CanVar and the NHSE GLH Haematological Oncology Malignancies Working Group held a workshop over two days (28-29th April 2022) in an attempt to establish consensus guidelines on the clinical and laboratory pathways and the management of disease-causing germline variation in the following genes:
DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2
Please see agenda, background information, slides and recordings from the sessions here below.
Please see the summary of our discussions, and record of statements for which consensus was reached in the document here below.
On Day 1, we had a fantastic session with talks on the themes of:
1. Developing a sustainable national infrastructure for assessment and management of genomic variation predisposing to haematological malignancies
2. Clinical/laboratory pathways for confirmation of inherited predisposition: from somatic detection to germline confirmation: challenging cases
We also posed a number of statements for which consensus was sought - results and overview are included here below.
Click on each of the buttons here below to access slides pertaining to each talk.
The recording of the talks is available to access by clicking here.
On day 2, we focused on the current knowledge regarding phenotypes associated with pathogenic constitutional variants in DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2; as well as the processes around consent, confirmatory and cascade testing in families where such variants are suspected and/or identified.
Please click on buttons below to access relevant talks.
The recording of the Day 2 talks is available to access here.
Because of the paucity of data and evidence regarding natural history and phenotypes associated with constitutional variation in these genes, we did not reach consensus regarding management of unaffected carriers or monitoring of affected individuals. However, we did demonstrate a clear desire to work together to generate evidence to guide best practice - requiring a thoughtful approach to establishing the infrastructure to allow careful follow-up of carriers, but also to prospectively capture relevant data in a standardised and robust manner.
During the UKCGG, CanGene-CanVar and NHSE GLH Haematological Oncology Malignancies Working Group consensus meeting regarding the management of patients with or at risk of hereditary predisposition to haematological malignancies, it was recognised that a focussed session regarding specific issues related to bone marrow transplant in treatment of haematological malignancies associated with hereditary predisposition was urgently required. This prompted another consensus meeting in collaboration with the British Society of Blood and Marrow Transplantation and Cellular Therapy and involving key stakeholders from all of these groups as well as additional experts in bone marrow transplantation. The virtual meeting was held on 15th July 2022. A summary of the discussion is outlined here below.
A meeting regarding indications for testing of genes in which pathogenic variants confer a moderate risk of ovarian (+/- breast) cancer as well as management of carriers in whom such variants are identified was organised by UKCGG and CanGene-CanVar groups, and held virtually over two days 30th September-1st October 2021.
Many thanks to all the attendees of the TP53 Screening Guidelines UK Consensus Group Meeting (06/07/2018) for their productive and progressive discussions and a special thank you to:
Please see below for relevant documents pertaining to this meeting
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