Portal de investigação
Hereditary diffuse gastric cancer: updated clinical practice guidelines
Data de publicação:
Autores da FMUP
Participantes de fora da FMUP
- Blair, VR
- McLeod, M
- Coit, DG
- D'Addario, JL
- van Dieren, JM
- Harris, KL
- Hoogerbrugge, N
- van der Post, RS
- Arnold, J
- Benusiglio, PR
- Bisseling, TM
- Boussioutas, A
- Cats, A
- Charlton, A
- Schreiber, KEC
- Davis, JL
- di Pietro, M
- Fitzgerald, RC
- Ford, JM
- Gamet, K
- Hardwick, RH
- Huntsman, DG
- Kaurah, P
- Kupfer, SS
- Latchford, A
- Mansfield, PF
- Nakajima, T
- Parry, S
- Rossaak, J
- Sugimura, H
- Svrcek, M
- Tischkowitz, M
- Ushijima, T
- Yamada, H
- Yang, HK
- Claydon, A
- Paringatai, K
- Seruca, R
- Bougen Zhukov, N
- Brew, T
- Busija, S
- Carneiro, P
- DeGregorio, L
- Fisher, H
- Gardner, E
- Godwin, TD
- Holm, KN
- Humar, B
- Lintott, CJ
- Monroe, EC
- Muller, MD
- Norero, E
- Nouri, Y
- Sanches, JM
- Schulpen, E
- Ribeiro, AS
- Sporle, A
- Whitworth, J
- Zhang, LY
- Reeve, AE
- Guilford, P
Unidades de investigação
Abstract
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.
Dados da publicação
- ISSN/ISSNe:
- 1470-2045, 1474-5488
- Tipo:
- Review
- Páginas:
- 386-397
- Link para outro recurso:
- www.scopus.com
LANCET ONCOLOGY Lancet Publishing Group
Citações Recebidas na Web of Science: 187
Citações Recebidas na Scopus: 273
Documentos
- Não há documentos
Filiações
Keywords
- PROPHYLACTIC TOTAL GASTRECTOMY; GERMLINE MUTATIONS; BARIATRIC SURGERY; LOBULAR CARCINOMA; CDH1; OUTCOMES; BRCA1; SURVEILLANCE; INDIVIDUALS; ASSOCIATION
Financiamento
Proyectos asociados
Studying the value of embryonic stem cell (ESC) markers in breast cancer pathology
Investigador Principal: Joana Cancela de Amorim Falcão Paredes
Estudo Clínico Académico . 2019
Citar a publicação
Blair VR,McLeod M,Carneiro F,Coit DG,D'Addario JL,van JM,Harris KL,Hoogerbrugge N,Oliveira C,van der Post RS,Arnold J,Benusiglio PR,Bisseling TM,Boussioutas A,Cats A,Charlton A,Schreiber K,Davis JL,di M,Fitzgerald RC,Ford JM,Gamet K,Gullo I,Hardwick RH,Huntsman DG,Kaurah P,Kupfer SS,Latchford A,Mansfield PF,Nakajima T,Parry S,Rossaak J,Sugimura H,Svrcek M,Tischkowitz M,Ushijima T,Yamada H,Yang HK,Claydon A,Figueiredo J,Paringatai K,Seruca R,Bougen N,Brew T,Busija S,Carneiro P,DeGregorio L,Fisher H,Gardner E,Godwin TD,Holm KN,Humar B,Lintott CJ,Monroe EC,Muller MD,Norero E,Nouri Y,Paredes J,Sanches JM,Schulpen E,Ribeiro AS,Sporle A,Whitworth J,Zhang LY,Reeve AE,Guilford P. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 2020. 21(8):p. 386-397. IF:41,316. (1).
