Publications:

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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

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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

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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

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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

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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>T; Thr379Thr

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

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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: CDH1: Thr379=; rs587783050

PubMed Link: 31514334

Variant Present in the following documents:

• Main text
• cancers-11-01340.pdf

View BVdb publication page

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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>T; Thr379=

PubMed Link: 30311375

Variant Present in the following documents:

• Main text

View BVdb publication page

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