Publications:

---

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

Garcia-Pelaez, José J; Barbosa-Matos, Rita R; Lobo, Silvana S; Dias, Alexandre A; Garrido, Luzia L; Castedo, Sérgio S; Sousa, Sónia S; Pinheiro, Hugo H; Sousa, Liliana L; Monteiro, Rita R; Maqueda, Joaquin J JJ; Fernandes, Susana S; Carneiro, Fátima F; Pinto, Nádia N; Lemos, Carolina C; Pinto, Carla C; Teixeira, Manuel R MR; Aretz, Stefan S; Bajalica-Lagercrantz, Svetlana S; Balmaña, Judith J; Blatnik, Ana A; Benusiglio, Patrick R PR; Blanluet, Maud M; Bours, Vicent V; Brems, Hilde H; Brunet, Joan J; Calistri, Daniele D; Capellá, Gabriel G; Carrera, Sergio S; Colas, Chrystelle C; Dahan, Karin K; de Putter, Robin R; Desseignés, Camille C; Domínguez-Garrido, Elena E; Egas, Conceição C; Evans, D Gareth DG; Feret, Damien D; Fewings, Eleanor E; Fitzgerald, Rebecca C RC; Coulet, Florence F; Garcia-Barcina, María M; Genuardi, Maurizio M; Golmard, Lisa L; Hackmann, Karl K; Hanson, Helen H; Holinski-Feder, Elke E; Hüneburg, Robert R; Krajc, Mateja M; Lagerstedt-Robinson, Kristina K; Lázaro, Conxi C; Ligtenberg, Marjolijn J L MJL; Martínez-Bouzas, Cristina C; Merino, Sonia S; Michils, Geneviève G; Novaković, Srdjan S; Patiño-García, Ana A; Ranzani, Guglielmina Nadia GN; Schröck, Evelin E; Silva, Inês I; Silveira, Catarina C; Soto, José L JL; Spier, Isabel I; Steinke-Lange, Verena V; Tedaldi, Gianluca G; Tejada, María-Isabel MI; Woodward, Emma R ER; Tischkowitz, Marc M; Hoogerbrugge, Nicoline N; Oliveira, Carla C

Publication Date: 2022-11-24

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: CDH1: T379T

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.

Frontiers In Genetics

Green, Benjamin L BL; Fasaye, Grace-Ann GA; Samaranayake, Sarah G SG; Duemler, Anna A; Gamble, Lauren A LA; Davis, Jeremy L JL

Publication Date: 2022

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 36246616

Variant Present in the following documents:

• Main text
• fgene-13-1012025.pdf

View BVdb publication page

---

CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.

British Journal Of Cancer

Adib, Elio E; El Zarif, Talal T; Nassar, Amin H AH; Akl, Elie W EW; Abou Alaiwi, Sarah S; Mouhieddine, Tarek H TH; Esplin, Edward D ED; Hatchell, Kathryn K; Nielsen, Sarah M SM; Rana, Huma Q HQ; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Sonpavde, Guru G

Publication Date: 2022-03

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 34949788

Variant Present in the following documents:

• 41416_2021_1673_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: CDH1: T379T

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

---

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

Cancers

Marwitz, Tim T; Hüneburg, Robert R; Spier, Isabel I; Lau, Jan-Frederic JF; Kristiansen, Glen G; Lingohr, Philipp P; Kalff, Jörg C JC; Aretz, Stefan S; Nattermann, Jacob J; Strassburg, Christian P CP

Publication Date: 2020-12-11

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 33322525

Variant Present in the following documents:

• Main text
• cancers-12-03726.pdf

View BVdb publication page

---

Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Ji, Ke K; Ao, Sheng S; He, Liu L; Zhang, Lijiao L; Feng, Li L; Lyu, Guoqing G

Publication Date: 2020-08

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 32963463

Variant Present in the following documents:

• Main text

View BVdb publication page

---

First report of a Mexican family with mutation in the CDH1 gene.

Molecular Genetics & Genomic Medicine

Martínez Valenzuela, Carmen C; Castelán-Maldonado, Edmundo Erbey EE; Carvajal-Zarrabal, Octavio O; Calderón-Garcidueñas, Ana Laura AL

Publication Date: 2020-11

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 32886433

Variant Present in the following documents:

• Main text
• MGG3-8-e1208.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CDH1: T379T

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Current Oncology (Toronto, Ont.)

Aronson, M M; Swallow, C C; Govindarajan, A A; Semotiuk, K K; Cohen, Z Z; Kaurah, P P; Velsher, L L; Ambus, I I; Buckley, K K; Forster-Gibson, C C; Meschino, W S WS; Blumenthal, A A; Kim, R H RH; Brar, S S

Publication Date: 2020-04

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 32489267

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

Bmc Gastroenterology

Niemeyer, Elisabeth E; Mofid, Hamid H; Zornig, Carsten C; Burandt, Eike-Christian EC; Stein, Alexander A; Block, Andreas A; Volk, Alexander E AE

Publication Date: 2020-05-03

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 32362280

Variant Present in the following documents:

• 12876_2020_Article_1283.pdf

View BVdb publication page

---

Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Journal Of Gastrointestinal Oncology

Hoang, Tuyen T; Ganesan, Anand K AK; Hiyama, Darryl D; Dayyani, Farshid F

Publication Date: 2020-02

Variant appearance in text: CDH1: 1137G>A; Thr379=

PubMed Link: 32175104

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: N/A

PubMed Link: 31854063

Variant Present in the following documents:

View BVdb publication page

---

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: CDH1: 1137G>A; T379=

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 2
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

---

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Cancers

Tedaldi, Gianluca G; Pirini, Francesca F; Tebaldi, Michela M; Zampiga, Valentina V; Cangini, Ilaria I; Danesi, Rita R; Arcangeli, Valentina V; Ravegnani, Mila M; Abou Khouzam, Raefa R; Molinari, Chiara C; Oliveira, Carla C; Morgagni, Paolo P; Saragoni, Luca L; Bencivenga, Maria M; Ulivi, Paola P; Amadori, Dino D; Martinelli, Giovanni G; Falcini, Fabio F; Ranzani, Guglielmina Nadia GN; Calistri, Daniele D

Publication Date: 2019-09-11

Variant appearance in text: N/A

PubMed Link: 31514334

Variant Present in the following documents:

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

Journal Of Medical Genetics

Lo, Winifred W; Zhu, Bin B; Sabesan, Arvind A; Wu, Ho-Hsiang HH; Powers, Astin A; Sorber, Rebecca A RA; Ravichandran, Sarangan S; Chen, Ina I; McDuffie, Lucas A LA; Quadri, Humair S HS; Beane, Joal D JD; Calzone, Kathleen K; Miettinen, Markku M MM; Hewitt, Stephen M SM; Koh, Christopher C; Heller, Theo T; Wacholder, Sholom S; Rudloff, Udo U

Publication Date: 2019-06

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 30745422

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Journal Of Medical Genetics

Figueiredo, Joana J; Melo, Soraia S; Carneiro, Patrícia P; Moreira, Ana Margarida AM; Fernandes, Maria Sofia MS; Ribeiro, Ana Sofia AS; Guilford, Parry P; Paredes, Joana J; Seruca, Raquel R

Publication Date: 2019-04

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 30661051

Variant Present in the following documents:

• Main text
• jmedgenet-2018-105807.pdf

View BVdb publication page

---

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Human Mutation

Lee, Kristy K; Krempely, Kate K; Roberts, Maegan E ME; Anderson, Michael J MJ; Carneiro, Fatima F; Chao, Elizabeth E; Dixon, Katherine K; Figueiredo, Joana J; Ghosh, Rajarshi R; Huntsman, David D; Kaurah, Pardeep P; Kesserwan, Chimene C; Landrith, Tyler T; Li, Shuwei S; Mensenkamp, Arjen R AR; Oliveira, Carla C; Pardo, Carolina C; Pesaran, Tina T; Richardson, Matthew M; Slavin, Thomas P TP; Spurdle, Amanda B AB; Trapp, Mackenzie M; Witkowski, Leora L; Yi, Charles S CS; Zhang, Liying L; Plon, Sharon E SE; Schrader, Kasmintan A KA; Karam, Rachid R

Publication Date: 2018-11

Variant appearance in text: CDH1: 1137G>A; Thr379=

PubMed Link: 30311375

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk.

Clinical And Translational Medicine

Li, Dandan D; Lo, Winifred W; Rudloff, Udo U

Publication Date: 2018-02-22

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 29468433

Variant Present in the following documents:

• Main text
• 40169_2018_Article_184.pdf

View BVdb publication page

---

Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: N/A

PubMed Link: 28810143

Variant Present in the following documents:

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CDH1: 1137G>A; Thr379=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Breast Cancer Research And Treatment

Crawford, Beth B; Adams, Sophie B SB; Sittler, Taylor T; van den Akker, Jeroen J; Chan, Salina S; Leitner, Ofri O; Ryan, Lauren L; Gil, Elad E; van 't Veer, Laura L

Publication Date: 2017-06

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 28281021

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: CDH1: 1137G>A; T379T

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

---

Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.

Endoscopy International Open

Hüneburg, Robert R; Marwitz, Tim T; van Heteren, Peer P; Weismüller, Tobias J TJ; Trebicka, Jonel J; Adam, Ronja R; Aretz, Stefan S; Perez Bouza, Alberto A; Pantelis, Dimitrios D; Kalff, Jörg C JC; Nattermann, Jacob J; Strassburg, Cristian P CP

Publication Date: 2016-12

Variant appearance in text: CDH1: 1137G>A

PubMed Link: 27995193

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-112582.pdf

View BVdb publication page

---

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

Journal Of Medical Genetics

Frebourg, T T; Oliveira, C C; Hochain, P P; Karam, R R; Manouvrier, S S; Graziadio, C C; Vekemans, M M; Hartmann, A A; Baert-Desurmont, S S; Alexandre, C C; Lejeune Dumoulin, S S; Marroni, C C; Martin, C C; Castedo, S S; Lovett, M M; Winston, J J; Machado, J C JC; Attié, T T; Jabs, E W EW; Cai, J J; Pellerin, Ph P; Triboulet, J P JP; Scotte, M M; Le Pessot, F F; Hedouin, A A; Carneiro, F F; Blayau, M M; Seruca, R R

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15831593

Variant Present in the following documents:

• Main text

View BVdb publication page

---