Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines
Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines
Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.
383-392
McCarthy, Rebecca L.
515387da-6070-4186-ae12-f315a1ab667b
Copson, Ellen
a94cdbd6-f6e2-429d-a7c0-462c7da0e92b
Tapper, William
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Bolton, Helen
0f6ec750-89da-48e0-8b47-46c575f66baf
Mirnezami, Alex H.
0b9bae13-5c03-4645-ad9f-c648b558f51d
O'Neill, J. Robert
15609f26-f51f-4a54-8c51-47c193c3c4a2
Patel, Nimesh N.
4ab11f33-89db-43db-8f33-ed553a237a50
Tischkowitz, Marc
dde7a0ce-14a3-4171-8f9c-c3f4d0623735
Cutress, Ramsey I.
68ae4f86-e8cf-411f-a335-cdba51797406
31 May 2023
McCarthy, Rebecca L.
515387da-6070-4186-ae12-f315a1ab667b
Copson, Ellen
a94cdbd6-f6e2-429d-a7c0-462c7da0e92b
Tapper, William
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Bolton, Helen
0f6ec750-89da-48e0-8b47-46c575f66baf
Mirnezami, Alex H.
0b9bae13-5c03-4645-ad9f-c648b558f51d
O'Neill, J. Robert
15609f26-f51f-4a54-8c51-47c193c3c4a2
Patel, Nimesh N.
4ab11f33-89db-43db-8f33-ed553a237a50
Tischkowitz, Marc
dde7a0ce-14a3-4171-8f9c-c3f4d0623735
Cutress, Ramsey I.
68ae4f86-e8cf-411f-a335-cdba51797406
McCarthy, Rebecca L., Copson, Ellen, Tapper, William, Bolton, Helen, Mirnezami, Alex H., O'Neill, J. Robert, Patel, Nimesh N., Tischkowitz, Marc and Cutress, Ramsey I.
(2023)
Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines.
British Journal of Cancer, 129 (3), .
(doi:10.1038/s41416-023-02296-w).
Abstract
Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.
Text
s41416-023-02296-w
- Version of Record
More information
Accepted/In Press date: 21 April 2023
e-pub ahead of print date: 31 May 2023
Published date: 31 May 2023
Additional Information:
Funding Information:
RLM was supported by the University of Southampton National Institute of Health Research Academic Foundation Programme. MT was supported by the Cancer Research UK Catalyst Award CanGene-CanVar (C61296/A27223) and the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). JRON is supported in part by the CRUK Cambridge Centre Thoracic Cancer programme (CTRQQR-2021\100012). EC and RIC have received research support from SECA and Astra-Zeneca (70053237). The views expressed are those of the authors and not necessarily the NIHR or the Department of Health and Social Care.
Publisher Copyright:
© 2023, The Author(s).
Identifiers
Local EPrints ID: 477563
URI: http://eprints.soton.ac.uk/id/eprint/477563
ISSN: 0007-0920
PURE UUID: 5081b3fe-a0f4-4609-a4bb-e8062868af54
Catalogue record
Date deposited: 08 Jun 2023 16:45
Last modified: 15 Aug 2024 01:36
Export record
Altmetrics
Contributors
Author:
Rebecca L. McCarthy
Author:
Helen Bolton
Author:
Alex H. Mirnezami
Author:
J. Robert O'Neill
Author:
Nimesh N. Patel
Author:
Marc Tischkowitz
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics
