Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: CDH1: 808T>G; Ser270Ala; rs587776399

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: S270A

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Cancers

Massari, Giulia G; Magnoni, Francesca F; Favia, Giorgio G; Peradze, Nickolas N; Veronesi, Paolo P; La Vecchia, Carlo C; Corso, Giovanni G

Publication Date: 2021-05-12

Variant appearance in text: CDH1: S270A

PubMed Link: 34066044

Variant Present in the following documents:

• Main text
• cancers-13-02321.pdf

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: CDH1: 808T>G; S270A

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Frontiers In Oncology

Brovkina, Olga I OI; Shigapova, Leila L; Chudakova, Daria A DA; Gordiev, Marat G MG; Enikeev, Rafael F RF; Druzhkov, Maxim O MO; Khodyrev, Dmitriy S DS; Shagimardanova, Elena I EI; Nikitin, Alexey G AG; Gusev, Oleg A OA

Publication Date: 2018

Variant appearance in text: CDH1: 808T>G; Ser270Ala

PubMed Link: 30333958

Variant Present in the following documents:

• Main text
• fonc-08-00421.pdf

View BVdb publication page

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High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.

Hereditary Cancer In Clinical Practice

Maksimenko, J J; Irmejs, A A; Trofimovičs, G G; Bērziņa, D D; Skuja, E E; Purkalne, G G; Miklaševičs, E E; Gardovskis, J J

Publication Date: 2018

Variant appearance in text: CDH1: 808T>G

PubMed Link: 29928469

Variant Present in the following documents:

• 13053_2018_Article_94.pdf

View BVdb publication page

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Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Oncotarget

Busch, Evan L EL; Hornick, Jason L JL; Umeton, Renato R; Albayrak, Adem A; Lindeman, Neal I NI; MacConaill, Laura E LE; Garcia, Elizabeth P EP; Ducar, Matthew M; Rebbeck, Timothy R TR

Publication Date: 2017-10-17

Variant appearance in text: CDH1: 808T>G; S270A

PubMed Link: 29156750

Variant Present in the following documents:

• oncotarget-08-85680-s002.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: CDH1: 808T>G; Ser270Ala; rs587776399

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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: 808T>G; Ser270Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Roles for E-cadherin cell surface regulation in cancer.

Molecular Biology Of The Cell

Petrova, Yuliya I YI; Schecterson, Leslayann L; Gumbiner, Barry M BM

Publication Date: 2016-11-01

Variant appearance in text: CDH1: S270A

PubMed Link: 27582386

Variant Present in the following documents:

• Main text
• 3233.pdf

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: S270A

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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E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Plos One

Simões-Correia, Joana J; Figueiredo, Joana J; Lopes, Rui R; Stricher, François F; Oliveira, Carla C; Serrano, Luis L; Seruca, Raquel R

Publication Date: 2012

Variant appearance in text: CDH1: S270A

PubMed Link: 22470475

Variant Present in the following documents:

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CDH1: S270A

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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