Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: CDH1: 2336G>A; Arg779Gln

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2336G>A

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: CDH1: R779Q

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports

Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA

Publication Date: 2017-08-29

Variant appearance in text: CDH1: R779Q

PubMed Link: 28852190

Variant Present in the following documents:

• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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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: 2336G>A; Arg779Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA.

Scientific Reports

Weerts, Marjolein J A MJA; van Marion, Ronald R; Helmijr, Jean C A JCA; Beaufort, Corine M CM; Krol, Niels M G NMG; Trapman-Jansen, Anita M A C AMAC; Dinjens, Winand N M WNM; Sleijfer, Stefan S; Jansen, Maurice P H M MPHM; Martens, John W M JWM

Publication Date: 2017-05-18

Variant appearance in text: CDH1: 2336G>A

PubMed Link: 28522829

Variant Present in the following documents:

• Main text
• 41598_2017_2388_MOESM1_ESM.pdf
• 41598_2017_Article_2388.pdf

View BVdb publication page

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Cell-free DNA mutations as biomarkers in breast cancer patients receiving tamoxifen.

Oncotarget

Jansen, Maurice Phm MP; Martens, John Wm JW; Helmijr, Jean Ca JC; Beaufort, Corine M CM; van Marion, Ronald R; Krol, Niels Mg NM; Monkhorst, Kim K; Trapman-Jansen, Anita Mac AM; Meijer-van Gelder, Marion E ME; Weerts, Marjolein Ja MJ; Ramirez-Ardila, Diana E DE; Dubbink, Hendrikus Jan HJ; Foekens, John A JA; Sleijfer, Stefan S; Berns, Els Mjj EM

Publication Date: 2016-07-12

Variant appearance in text: CDH1: R779Q

PubMed Link: 27270325

Variant Present in the following documents:

• oncotarget-07-43412-s002.xlsx, sheet 1

View BVdb publication page

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