Article
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
The Lancet. Oncology - 1 Jan 2023
Garcia-Pelaez José, Barbosa-Matos Rita, Lobo Silvana, Dias Alexandre, Garrido Luzia, Castedo Sérgio, Sousa Sónia, Pinheiro Hugo, Sousa Liliana, Monteiro Rita, Maqueda Joaquin J, Fernandes Susana, Carneiro Fátima, Pinto Nádia, Lemos Carolina, Pinto Carla, Teixeira Manuel R, Aretz Stefan, Bajalica-Lagercrantz Svetlana, Balmaña Judith, Blatnik Ana, Benusiglio Patrick R, Blanluet Maud, Bours Vincent, Brems Hilde, Brunet Joan, Calistri Daniele, Capellá Gabriel, Carrera Sergio, Colas Chrystelle, Dahan Karin, de Putter Robin, Desseignés Camille, Domínguez-Garrido Elena, Egas Conceição, Evans D Gareth, Feret Damien, Fewings Eleanor, Fitzgerald Rebecca C, Coulet Florence, Garcia-Barcina María, Genuardi Maurizio, Golmard Lisa, Hackmann Karl, Hanson Helen, Holinski-Feder Elke, Hüneburg Robert, Krajc Mateja, Lagerstedt-Robinson Kristina, Lázaro Conxi, Ligtenberg Marjolijn J L, Martínez-Bouzas Cristina, Merino Sonia, Michils Geneviève, Novaković Srdjan, Patiño-García Ana, Ranzani Guglielmina Nadia, Schröck Evelin, Silva Inês, Silveira Catarina, Soto José L, Spier Isabel, Steinke-Lange Verena, Tedaldi Gianluca, Tejada María-Isabel, Woodward Emma R, Tischkowitz Marc, Hoogerbrugge Nicoline, Oliveira Carla
Abstract excerpt
BACKGROUND: Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown...
Topics
- Female
- Humans
