Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: MUTYH: Q310H

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology

Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H

Publication Date: 2022

Variant appearance in text: rs3219489

PubMed Link: 36632296

Variant Present in the following documents:

• Main text
• rpor-27-6-1045.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3219489

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: N/A

PubMed Link: 36467812

Variant Present in the following documents:

View BVdb publication page

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MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

World Journal Of Clinical Cases

Zhang, Xi-Wen XW; Jia, Zan-Hui ZH; Zhao, Li-Ping LP; Wu, Yi-Shi YS; Cui, Man-Hua MH; Jia, Yan Y; Xu, Tian-Min TM

Publication Date: 2022-07-16

Variant appearance in text: rs3219489

PubMed Link: 36051147

Variant Present in the following documents:

• WJCC-10-7105.pdf

View BVdb publication page

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A study on UHPLC-MS/MS analyses of DNA and RNA oxidative damage metabolites in patients with cervical carcinoma: 8-oxoG in urine as a potential biomarker of cervical carcinoma.

Heliyon

Lin, Rong-Rong RR; Li, Xiang-Yu XY; Weng, Qing-Hua QH; Zhou, Xing-Xing XX; Zheng, Fei-Yun FY; Cai, Jian-Ping JP

Publication Date: 2022-04

Variant appearance in text: rs3219489

PubMed Link: 35520626

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: rs3219489

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: rs3219489

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Associations between polymorphisms in genes of base excision repair pathway and lung cancer risk.

Translational Cancer Research

Liu, Shiqing S; Xiao, Yao Y; Hu, Chengping C; Li, Min M

Publication Date: 2020-04

Variant appearance in text: rs3219489

PubMed Link: 35117636

Variant Present in the following documents:

• Main text
• tcr-09-04-2780.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: N/A

PubMed Link: 34673281

Variant Present in the following documents:

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34673281

Variant Present in the following documents:

View BVdb publication page

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: N/A

PubMed Link: 34580418

Variant Present in the following documents:

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs3219489

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: rs3219489

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs3219489

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs3219489

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Male and female breast cancer: the two faces of the same genetic susceptibility coin.

Breast Cancer Research And Treatment

Silva, Susana Nunes SN; Gomes, Bruno Costa BC; André, Saudade S; Félix, Ana A; Rodrigues, António Sebastião AS; Rueff, José J

Publication Date: 2021-07

Variant appearance in text: rs3219489

PubMed Link: 33942220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer.

Clinical And Translational Gastroenterology

Gargallo-Puyuelo, Carla J CJ; Lanas, Ángel Á; Carrera-Lasfuentes, Patricia P; Ferrández, Ángel Á; Quintero, Enrique E; Carrillo, Marta M; Alonso-Abreu, Inmaculada I; García-González, María Asunción MA

Publication Date: 2021-02-03

Variant appearance in text: rs3219489

PubMed Link: 33534415

Variant Present in the following documents:

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs3219489

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.

Molecular And Clinical Oncology

Moscatello, Carmelo C; Di Nicola, Marta M; Veschi, Serena S; Di Gregorio, Patrizia P; Cianchetti, Ettore E; Stuppia, Liborio L; Battista, Pasquale P; Cama, Alessandro A; Curia, Maria Cristina MC; Aceto, Gitana Maria GM

Publication Date: 2021-01

Variant appearance in text: rs3219489

PubMed Link: 33343895

Variant Present in the following documents:

• Main text
• mco-14-01-02177.pdf

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: rs3219489

PubMed Link: 33240400

Variant Present in the following documents:

• Main text
• 10.1177_1758835920970845.pdf

View BVdb publication page

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Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer

Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D

Publication Date: 2020-08

Variant appearance in text: rs3219489

PubMed Link: 32908788

Variant Present in the following documents:

• jbc-23-373-s004.xls, sheet 1

View BVdb publication page

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MUTYH: Not just polyposis.

World Journal Of Clinical Oncology

Curia, Maria Cristina MC; Catalano, Teresa T; Aceto, Gitana Maria GM

Publication Date: 2020-07-24

Variant appearance in text: rs3219489

PubMed Link: 32821650

Variant Present in the following documents:

• Main text
• WJCO-11-428.pdf

View BVdb publication page

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PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins.

Genome Biology

Brandes, Nadav N; Linial, Nathan N; Linial, Michal M

Publication Date: 2020-07-14

Variant appearance in text: rs3219489

PubMed Link: 32665031

Variant Present in the following documents:

• 13059_2020_2089_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: N/A

PubMed Link: 32300177

Variant Present in the following documents:

View BVdb publication page

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Oxidative Damage in Sporadic Colorectal Cancer: Molecular Mapping of Base Excision Repair Glycosylases in Colorectal Cancer Patients.

International Journal Of Molecular Sciences

Vodicka, Pavel P; Urbanova, Marketa M; Makovicky, Pavol P; Tomasova, Kristyna K; Kroupa, Michal M; Stetina, Rudolf R; Opattova, Alena A; Kostovcikova, Klara K; Siskova, Anna A; Schneiderova, Michaela M; Vymetalkova, Veronika V; Vodickova, Ludmila L

Publication Date: 2020-04-02

Variant appearance in text: rs3219489

PubMed Link: 32252452

Variant Present in the following documents:

• Main text
• ijms-21-02473.pdf

View BVdb publication page

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Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

Non-Coding Rna Research

Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Al-Allaf, Faisal A FA; Al-Dehlawi, Saied S; Vazquez, Jose R JR

Publication Date: 2019-12

Variant appearance in text: rs3219489

PubMed Link: 32072083

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Medicine

Li, Xiaobin X; Wu, Yuling Y; Suo, Peisu P; Liu, Guifeng G; Li, Lifeng L; Zhang, Xiaoni X; Chen, Shifu S; Xu, Mingyan M; Song, Lele L

Publication Date: 2020-01

Variant appearance in text: rs3219489

PubMed Link: 32000458

Variant Present in the following documents:

• medi-99-e19076-s001.xlsx, sheet 1

View BVdb publication page

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Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population.

Scientific Reports

Corredor, Zuray Z; Filho, Miguel Inácio da Silva MIDS; Rodríguez-Ribera, Lara L; Velázquez, Antonia A; Hernández, Alba A; Catalano, Calogerina C; Hemminki, Kari K; Coll, Elisabeth E; Silva, Irene I; Diaz, Juan Manuel JM; Ballarin, José J; Vallés Prats, Martí M; Calabia Martínez, Jordi J; Försti, Asta A; Marcos, Ricard R; Pastor, Susana S

Publication Date: 2020-01-10

Variant appearance in text: rs3219489

PubMed Link: 31924810

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: MUTYH: Gln310His

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 3

View BVdb publication page

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PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.

Medicine

Cui, Man-Hua MH; Zhang, Xi-Wen XW; Yu, Tong T; Huang, Dong-Wei DW; Jia, Yan Y

Publication Date: 2019-12

Variant appearance in text: rs3219489

PubMed Link: 31860975

Variant Present in the following documents:

• medi-98-e18279.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs3219489

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: rs3219489

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Genes

Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J

Publication Date: 2019-08-01

Variant appearance in text: rs3219489

PubMed Link: 31374908

Variant Present in the following documents:

• Main text
• genes-10-00586.pdf

View BVdb publication page

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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer

Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C

Publication Date: 2019

Variant appearance in text: rs3219489

PubMed Link: 31031852

Variant Present in the following documents:

• Main text
• jcav10p1417.pdf

View BVdb publication page

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Association of the MUTYH Gln324His (CAG/CAC) variant with cervical carcinoma and HR-HPV infection in a Chinese population.

Medicine

Chen, Huaizeng H; Wang, Hanzhi H; Liu, Jia J; Cheng, Qi Q; Chen, Xiaojing X; Ye, Feng F

Publication Date: 2019-04

Variant appearance in text: rs3219489

PubMed Link: 31027119

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs3219489

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: N/A

PubMed Link: 30784590

Variant Present in the following documents:

View BVdb publication page

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Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Frontiers In Oncology

Rizzolo, Piera P; Silvestri, Valentina V; Bucalo, Agostino A; Zelli, Veronica V; Valentini, Virginia V; Catucci, Irene I; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Spinelli, Alessandro Mauro AM; Tommasi, Stefania S; Tibiletti, Maria Grazia MG; Russo, Antonio A; Varesco, Liliana L; Coppa, Anna A; Calistri, Daniele D; Cortesi, Laura L; Viel, Alessandra A; Bonanni, Bernardo B; Azzollini, Jacopo J; Manoukian, Siranoush S; Montagna, Marco M; Radice, Paolo P; Palli, Domenico D; Peterlongo, Paolo P; Ottini, Laura L

Publication Date: 2018

Variant appearance in text: rs3219489

PubMed Link: 30564557

Variant Present in the following documents:

• Main text
• fonc-08-00583.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: N/A

PubMed Link: 30514953

Variant Present in the following documents:

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3219489

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: N/A

PubMed Link: 30389958

Variant Present in the following documents:

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs3219489

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and Characterization of gc-006-03, a Novel Human Signet Ring Cell Gastric Cancer Cell Line Derived from Metastatic Ascites.

Journal Of Cancer

Su, Xinyu X; Xue, Yiqi Y; Wei, Jingsun J; Huo, Xinying X; Gong, Yang Y; Zhang, Honghong H; Han, Rongbo R; Chen, Yuetong Y; Chen, Hong H; Chen, Jinfei J

Publication Date: 2018

Variant appearance in text: rs3219489

PubMed Link: 30271482

Variant Present in the following documents:

• Main text

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: N/A

PubMed Link: 30181556

Variant Present in the following documents:

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Association of Base Excision Repair Gene Polymorphisms with the Response to Chemotherapy in Advanced Non-Small Cell Lung Cancer.

Chinese Medical Journal

Dong, Jie J; Wang, Xu X; Yu, Yu Y; Yan, Xu X; Cui, Jiu-Wei JW

Publication Date: 2018-08-20

Variant appearance in text: rs3219489

PubMed Link: 30082520

Variant Present in the following documents:

• CMJ-131-1904.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs3219489

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 4

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Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome.

Molecular Genetics & Genomic Medicine

Kamiza, Abram B AB; Hsieh, Ling-Ling LL; Tang, Reiping R; Chien, Huei-Tzu HT; Lai, Chih-Hsiung CH; Chiu, Li-Ling LL; Lo, Tsai-Ping TP; Hung, Kuan-Yi KY; You, Jeng-Fu JF; Wang, Wen-Chang WC; Hsiung, Chao A CA; Yeh, Chih-Ching CC

Publication Date: 2018-04-17

Variant appearance in text: rs3219489

PubMed Link: 29664240

Variant Present in the following documents:

• Main text
• MGG3-6-533.pdf

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: rs3219489

PubMed Link: 29458332

Variant Present in the following documents:

• Main text
• 12881_2018_Article_533.pdf

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