Table 1.
Defining the process of literature search for existing guidelines and guidelines in development.
| Step | Detail | Outcome |
|---|---|---|
| 1 | Searching national genomic test directory to identify cancer-predisposing genetic variants | List of conditions and mutations which are tested for as of April 2022 [4] |
| 2 | PubMed search to identify existing guidelines which summarise the management of people with cancer-predisposing genetic variants | No UK guidelines identified. U.S.A. summary of guidelines (2006) identified which highlighted the lack of multiple endocrine neoplasia as a condition included in the national genomic test directory [9]. |
| 3 | NICE guidelines search (preventative/ prevention/ prophylaxis/ prophylactic/ surveillance/risk-reducing/genetic. |
Identified management of inherited breast cancer syndromes [CG164] [13] Some guidelines available for Lynch syndrome [NG151] [56] |
| 4 | NICE guidelines ‘in development’ searched | Ovarian cancer guidelines in development [38]—due for publication March 2024 |
| 5 | British society guidelines searched. UK cancer genetics group (UKCGG), British Society of Gastroenterologists (BSG), Royal College of Obstetricians and Gynaecologists (RCOG), British Gynaecological Cancer Society (BGCS), British Association of Endocrine and Thyroid Surgeons (BAETS), Association of Cancer Physicians (ACP), Association of Upper GI Surgery of Great Britain and Northern Ireland (AUGIS) and British Association of Paediatric Surgeons (BPS) websites manually screened for guidelines. |
UKCGG—directs to NICE guidelines for breast cancer [CG164 [13]] PALB2, PTEN, hereditary colorectal cancer and Lynch syndrome and TP53 [8] BSG/ACPGBI/UKCGG—guidelines for management of hereditary colorectal cancer [49] RCOG—risk-reducing bilateral salpingo-oophorectomy guidelines [32] BGCS—guidelines for management of uterine cancer [44] BAETS/British thyroid association—guidelines for management of MEN2 [68] No relevant guidelines found on AUGIS, BPS or ACP websites |
| 6 | PubMed search to identify and existing papers not endorsed by U.K. sub-speciality groups | See supplementary table 1 |
| 7 | Subspecialty surgical expertise | Review of relevant sections of article by local expert surgeon in each sub-speciality for accuracy |