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TITLE: CTNNA1 GERMLINE VARIANTS: DISEASE SPECTRUM EXTENDING BEYOND HEREDITARY DIFFUSE GASTRIC CANCER  Full Text
AUTHORS: Lobo, Silvana; Benusiglio, Patrick R.; Coulet, Florence; Boussemart, Lise; Golmard, Lisa; Spier, Isabel; Hueneburg, Robert; Aretz, Stefan; van Hest, Liselotte P.; Balmana, Judith; Tinschert, Sigrid; Katona, Bryson W.; Aronson, Melyssa; Antoniazzi, Augusto; Palmero, Edenir Ines; Horton, Carrie; Karam, Rachid; Moreira, Leticia; Castellvi Bel, Sergi; Nehoray, Bita; Gruber, Stephen B.; van der Kolk, Lizet E.; Cats, Annemieke; van Dieren, Jolanda M.; Colas, Chrystelle; Pereira, Paulo S.; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
AUTHORS: Luo, Xi; Maciaszek, Jamie L.; Thompson, Bryony A.; San Leong, Huei; Dixon, Katherine; Sousa, Sonia; Anderson, Michael; Roberts, Maegan E.; Lee, Kristy; Spurdle, Amanda B.; Mensenkamp, Arjen R.; Brannan, Terra; Pardo, Carolina; Zhang, Liying; Pesaran, Tina; Wei, Sainan; Fasaye, Grace Ann; Kesserwan, Chimene; Shirts, Brian H.; Davis, Jeremy L.; Oliveira, Carla; Plon, Sharon E.; Schrader, Kasmintan A.; Karam, Rachid; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: WOS
3
TITLE: Genetics of gastric cancer: what do we know about the genetic risks?
AUTHORS: Thomas Paul Slavin; Jeffrey N Weitzel; Susan L Neuhausen; Kasmintan A Schrader; Carla Oliveira; Rachid Karam;
PUBLISHED: 2019, SOURCE: TRANSLATIONAL GASTROENTEROLOGY AND HEPATOLOGY, VOLUME: 4, ISSUE: July
INDEXED IN: Scopus WOS CrossRef: 15
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TITLE: Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
AUTHORS: Giovanni Corso; Joana Figueiredo; Carlo La Vecchia; Paolo Veronesi; Gabriella Pravettoni; Debora Macis; Rachid Karam; Roberto Lo Gullo; Elena Provenzano; Antonio Toesca; Ketti Mazzocco; Fatima Carneiro ; Raquel Seruca; Soraia Melo; Fernando Schmitt ; Franco Roviello; Alessandra Margherita De Scalzi; Mattia Intra; Irene Feroce; Elisa De Camilli; Maria Grazia Villardita; Chiara Trentin; Francesca De Lorenzi; Bernardo Bonanni; Viviana Galimberti; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 55, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 65
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TITLE: Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants  Full Text
AUTHORS: Kristy Lee; Kate Krempely; Maegan E Roberts; Michael J Anderson; Fatima Carneiro ; Elizabeth Chao; Katherine Dixon; Joana Figueiredo; Rajarshi Ghosh; David Huntsman; Pardeep Kaurah; Chimene Kesserwan; Tyler Landrith; Shuwei W Li; Arjen R Mensenkamp; Carla Oliveira; Carolina Pardo; Tina Pesaran; Matthew Richardson; Thomas P Slavin; Amanda B Spurdle; Mackenzie Trapp; Leora Witkowski; Charles S Yi; Liying Y Zhang; Sharon E Plon; Kasmintan A Schrader; Rachid Karam; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 91
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TITLE: The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers  Full Text
AUTHORS: Karam, R; Carvalho, J; Bruno, I; Graziadio, C; Senz, J; Huntsman, D; Carneiro, F ; Seruca, R ; Wilkinson, MF; Oliveira, C;
PUBLISHED: 2008, SOURCE: ONCOGENE, VOLUME: 27, ISSUE: 30
INDEXED IN: Scopus WOS CrossRef: 61
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TITLE: Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
AUTHORS: Frebourg, T; Oliveira, C; Hochain, P; Karam, R; Manouvrier, S; Graziadio, C; Vekemans, M; Hartmann, A; Baert Desurmont, S; Alexandre, C; Dumoulin, SL; Marroni, C; Martin, C; Castedo, S ; Lovett, M; Winston, J; Machado, JC ; Attie, T; Jabs, EW; Cai, J; Pellerin, P; Triboulet, JP; Scotte, M; Le Pessot, F; Hedouin, A; Carneiro, F ; Blayau, M; Seruca, R ; ...More
PUBLISHED: 2006, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 43, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 138