Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: CDH1: L630V

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.

Bmc Cancer

Shao, Zhenzhen Z; Yu, Jinpu J; Cheng, Yanan Y; Ma, Wenjuan W; Liu, Peifang P; Lu, Hong H

Publication Date: 2023-01-27

Variant appearance in text: CDH1: 1888C>G

PubMed Link: 36707770

Variant Present in the following documents:

• 12885_2023_Article_10555.pdf

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: 1888C>G

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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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: L630V

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 germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: CDH1: L630V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: rs2276331

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Cancer Biology & Medicine

Dong, Li L; Zhang, Hailian H; Zhang, Huan H; Ye, Yingnan Y; Cheng, Yanan Y; Li, Lijuan L; Wei, Lijuan L; Han, Lei L; Cao, Yandong Y; Li, Shixia S; Hao, Xishan X; Liu, Juntian J; Yu, Jinpu J

Publication Date: 2021-09-28

Variant appearance in text: CDH1: 1888C>G; Leu630Val

PubMed Link: 34570441

Variant Present in the following documents:

• cbm-19-850-s001.pdf

View BVdb publication page

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Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics

Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C

Publication Date: 2021-07-21

Variant appearance in text: CDH1: 1888C>G; L630V; rs2276331

PubMed Link: 34289880

Variant Present in the following documents:

• 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Cancers

Corso, Giovanni G; Corso, Federica F; Bellerba, Federica F; Carneiro, Patrícia P; Seixas, Susana S; Cioffi, Antonio A; La Vecchia, Carlo C; Magnoni, Francesca F; Bonanni, Bernardo B; Veronesi, Paolo P; Gandini, Sara S; Figueiredo, Joana J

Publication Date: 2021-03-12

Variant appearance in text: CDH1: L630V

PubMed Link: 33809393

Variant Present in the following documents:

• Main text
• cancers-13-01269-s001.pdf
• cancers-13-01269.pdf

View BVdb publication page

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Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Frontiers In Oncology

Xu, Yun Y; Li, Cong C; Zhang, Yuqin Y; Guo, Tian'an T; Zhu, Congcong C; Xu, Ye Y; Liu, Fangqi F

Publication Date: 2020

Variant appearance in text: CDH1: Leu630Val

PubMed Link: 32984025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.

Frontiers In Genetics

Xu, Yun Y; Huang, Zonghao Z; Li, Cong C; Zhu, Congcong C; Zhang, Yuqin Y; Guo, Tian'an T; Liu, Fangqi F; Xu, Ye Y

Publication Date: 2020

Variant appearance in text: CDH1: Leu630Val

PubMed Link: 32973888

Variant Present in the following documents:

• Main text
• fgene-11-00991.pdf

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: L630V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: CDH1: 1888C>G; L630V

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CDH1: 1888C>G; L630V

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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: 1888C>G; Leu630Val

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: CDH1: L630V; rs2276331

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain

Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W

Publication Date: 2019-11-07

Variant appearance in text: CDH1: L630V; rs2276331

PubMed Link: 31699123

Variant Present in the following documents:

• 13041_2019_507_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CDH1: 1888C>G; L630V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CDH1: 1888C>G; Leu630Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: CDH1: 1888C>G; Leu630Val; rs2276331

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: CDH1: 1888C>G; L630V

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-09

Variant appearance in text: CDH1: Leu630Val

PubMed Link: 30022640

Variant Present in the following documents:

• Main text
• jgo-29-e80.pdf

View BVdb publication page

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Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-07

Variant appearance in text: CDH1: 1888C>G; Leu630Val

PubMed Link: 29770616

Variant Present in the following documents:

• Main text
• jgo-29-e43.pdf

View BVdb publication page

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Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Npj Genomic Medicine

Wong, Edward S Y ESY; Shekar, Sandhya S; Met-Domestici, Marie M; Chan, Claire C; Sze, Melody M; Yap, Yoon Sim YS; Rozen, Steven G SG; Tan, Min-Han MH; Ang, Peter P; Ngeow, Joanne J; Lee, Ann S G ASG

Publication Date: 2016

Variant appearance in text: CDH1: L630V

PubMed Link: 29263802

Variant Present in the following documents:

• Main text
• npjgenmed20153.pdf

View BVdb publication page

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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD

Publication Date: 2017-11-07

Variant appearance in text: CDH1: L630V; rs2276331

PubMed Link: 29212164

Variant Present in the following documents:

• Main text
• oncotarget-08-93450-s003.xlsx, sheet 1
• oncotarget-08-93450-s002.xlsx, sheet 1

View BVdb publication page

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Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Oncotarget

Kim, Yoonjung Y; Cho, Mee-Yon MY; Kim, Juwon J; Kim, Sung Nam SN; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2017-09-19

Variant appearance in text: CDH1: L630V

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

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: 1888C>G; Leu630Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2276331

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CDH1: L630V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CDH1: L630V; rs2276331

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

World Journal Of Gastroenterology

Chen, Qin-Hua QH; Deng, Wei W; Li, Xiao-Wei XW; Liu, Xiu-Fang XF; Wang, Jing-Mei JM; Wang, Li-Feng LF; Xiao, Nong N; He, Qiong Q; Wang, Ya-Ping YP; Fan, Yi-Mei YM

Publication Date: 2013-02-14

Variant appearance in text: CDH1: 1888C>G; L630V; rs2276331

PubMed Link: 23431106

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs2276331

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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