Publications:

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: APC: 5465T>G; Val1822Gly

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

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: rs459552

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs459552

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia

Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S

Publication Date: 2022-09

Variant appearance in text: rs459552

PubMed Link: 35606578

Variant Present in the following documents:

• 125_2022_5725_MOESM1_ESM.pdf

View BVdb publication page

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Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International

Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G

Publication Date: 2022-07

Variant appearance in text: rs459552

PubMed Link: 35347810

Variant Present in the following documents:

• CBIN-46-1047-s001.xlsx, sheet 1

View BVdb publication page

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Intronic Variant of MUTYH Gene Exhibits A Strong Association with Early Onset of Breast Cancer Susceptibility in Indonesian Women Population.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Panigoro, Sonar Soni SS; Listiyaningsih, Erlin E; Nurlaila, Ika I; Mahesworo, Bharuno B; Hidayat, Alam Ahmad AA; Budiarto, Arif A; Sudigyo, Digdo D; Amirullah, Dian D; Simon, Simon S; Baurley, James J; Pardamean, Bens B

Publication Date: 2021-12-01

Variant appearance in text: rs459552

PubMed Link: 34967580

Variant Present in the following documents:

• Main text
• APJCP-22-3985.pdf

View BVdb publication page

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Transmission Jeopardy of Adenomatosis Polyposis Coli and Methylenetetrahydrofolate Reductase in Colorectal Cancer.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Mohd, Younis Y; Kumar, Parvinder P; Kuchi Bhotla, Haripriya H; Meyyazhagan, Arun A; Balasubramanian, Balamuralikrishnan B; Ramesh Kumar, Mithun Kumar MK; Pappusamy, Manikantan M; Alagamuthu, Karthick Kumar KK; Orlacchio, Antonio A; Keshavarao, Sasikala S; Sampathkumar, Palanisamy P; Arumugam, Vijaya Anand VA

Publication Date: 2021

Variant appearance in text: rs459552

PubMed Link: 34956401

Variant Present in the following documents:

• Main text
• JRAAS2021-7010706.pdf

View BVdb publication page

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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience

Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C

Publication Date: 2021-10-09

Variant appearance in text: rs459552

PubMed Link: 34627165

Variant Present in the following documents:

• 12868_2021_662_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs459552

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Nontrivial Replication of Loci Detected by Multi-Trait Methods.

Frontiers In Genetics

Ning, Zheng Z; Tsepilov, Yakov A YA; Sharapov, Sodbo Zh SZ; Wang, Zhipeng Z; Grishenko, Alexander K AK; Feng, Xiao X; Shirali, Masoud M; Joshi, Peter K PK; Wilson, James F JF; Pawitan, Yudi Y; Haley, Chris S CS; Aulchenko, Yurii S YS; Shen, Xia X

Publication Date: 2021

Variant appearance in text: rs459552

PubMed Link: 33613642

Variant Present in the following documents:

• Presentation_1.pdf

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: rs459552

PubMed Link: 33534415

Variant Present in the following documents:

View BVdb publication page

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Associations of Adiposity, Circulating Protein Biomarkers, and Risk of Major Vascular Diseases.

Jama Cardiology

Pang, Yuanjie Y; Kartsonaki, Christiana C; Lv, Jun J; Fairhurst-Hunter, Zammy Z; Millwood, Iona Y IY; Yu, Canqing C; Guo, Yu Y; Chen, Yiping Y; Bian, Zheng Z; Yang, Ling L; Chen, Junshi J; Clarke, Robert R; Walters, Robin G RG; Holmes, Michael V MV; Li, Liming L; Chen, Zhengming Z

Publication Date: 2021-03-01

Variant appearance in text: rs459552

PubMed Link: 33263724

Variant Present in the following documents:

• jamacardiol-e206041-s001.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: rs459552

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs459552

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs459552

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: rs459552

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.pdf

View BVdb publication page

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Genetic variants in the WNT signaling pathway are protectively associated with colorectal cancer in a Saudi population.

Saudi Journal Of Biological Sciences

Parine, Narasimha Reddy NR; Azzam, Nahla A NA; Shaik, Jilani J; Aljebreen, Abdulrahman M AM; Alharbi, Othman O; Almadi, Majid A MA; Alanazi, Mohammad M; Khan, Zahid Z

Publication Date: 2019-02

Variant appearance in text: rs459552

PubMed Link: 31485167

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Regulatory networks in mechanotransduction reveal key genes in promoting cancer cell stemness and proliferation.

Oncogene

Huang, Wei W; Hu, Hui H; Zhang, Qiong Q; Wu, Xian X; Wei, Fuxiang F; Yang, Fang F; Gan, Lu L; Wang, Ning N; Yang, Xiangliang X; Guo, An-Yuan AY

Publication Date: 2019-10

Variant appearance in text: APC: 5465T>G; rs459552

PubMed Link: 31406247

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: rs459552

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs459552

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs459552

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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Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis.

Cancer Cell International

Wen, Jing J; Xu, Qian Q; Yuan, Yuan Y

Publication Date: 2018

Variant appearance in text: rs459552

PubMed Link: 30337837

Variant Present in the following documents:

• Main text
• 12935_2018_Article_656.pdf

View BVdb publication page

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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: rs459552

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer

Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2018-06

Variant appearance in text: rs459552

PubMed Link: 29963112

Variant Present in the following documents:

• Main text
• jbc-21-165.pdf

View BVdb publication page

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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: rs459552

PubMed Link: 29458332

Variant Present in the following documents:

• Main text
• 12881_2018_Article_533.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs459552

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations.

Anais Brasileiros De Dermatologia

Egashira, Sho S; Jinnin, Masatoshi M; Harada, Miho M; Masuguchi, Shinichi S; Fukushima, Satoshi S; Ihn, Hironobu H

Publication Date: 2016

Variant appearance in text: rs459552

PubMed Link: 28099595

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.

Bmc Cancer

Yedid, Nofar N; Kalma, Yael Y; Malcov, Mira M; Amit, Ami A; Kariv, Revital R; Caspi, Michal M; Rosin-Arbesfeld, Rina R; Ben-Yosef, Dalit D

Publication Date: 2016-12-23

Variant appearance in text: rs459552

PubMed Link: 28010732

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.

Mobile Dna

Carreira, Patricia E PE; Ewing, Adam D AD; Li, Guibo G; Schauer, Stephanie N SN; Upton, Kyle R KR; Fagg, Allister C AC; Morell, Santiago S; Kindlova, Michaela M; Gerdes, Patricia P; Richardson, Sandra R SR; Li, Bo B; Gerhardt, Daniel J DJ; Wang, Jun J; Brennan, Paul M PM; Faulkner, Geoffrey J GJ

Publication Date: 2016

Variant appearance in text: rs459552

PubMed Link: 27843499

Variant Present in the following documents:

• Main text
• 13100_2016_Article_76.pdf
• 13100_2016_76_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

American Journal Of Human Genetics

Li, Jun J; Woods, Susan L SL; Healey, Sue S; Beesley, Jonathan J; Chen, Xiaoqing X; Lee, Jason S JS; Sivakumaran, Haran H; Wayte, Nicci N; Nones, Katia K; Waterfall, Joshua J JJ; Pearson, John J; Patch, Anne-Marie AM; Senz, Janine J; Ferreira, Manuel A MA; Kaurah, Pardeep P; Mackenzie, Robertson R; Heravi-Moussavi, Alireza A; Hansford, Samantha S; Lannagan, Tamsin R M TRM; Spurdle, Amanda B AB; Simpson, Peter T PT; da Silva, Leonard L; Lakhani, Sunil R SR; Clouston, Andrew D AD; Bettington, Mark M; Grimpen, Florian F; Busuttil, Rita A RA; Di Costanzo, Natasha N; Boussioutas, Alex A; Jeanjean, Marie M; Chong, George G; Fabre, Aurélie A; Olschwang, Sylviane S; Faulkner, Geoffrey J GJ; Bellos, Evangelos E; Coin, Lachlan L; Rioux, Kevin K; Bathe, Oliver F OF; Wen, Xiaogang X; Martin, Hilary C HC; Neklason, Deborah W DW; Davis, Sean R SR; Walker, Robert L RL; Calzone, Kathleen A KA; Avital, Itzhak I; Heller, Theo T; Koh, Christopher C; Pineda, Marbin M; Rudloff, Udo U; Quezado, Martha M; Pichurin, Pavel N PN; Hulick, Peter J PJ; Weissman, Scott M SM; Newlin, Anna A; Rubinstein, Wendy S WS; Sampson, Jone E JE; Hamman, Kelly K; Goldgar, David D; Poplawski, Nicola N; Phillips, Kerry K; Schofield, Lyn L; Armstrong, Jacqueline J; Kiraly-Borri, Cathy C; Suthers, Graeme K GK; Huntsman, David G DG; Foulkes, William D WD; Carneiro, Fatima F; Lindor, Noralane M NM; Edwards, Stacey L SL; French, Juliet D JD; Waddell, Nicola N; Meltzer, Paul S PS; Worthley, Daniel L DL; Schrader, Kasmintan A KA; Chenevix-Trench, Georgia G

Publication Date: 2016-05-05

Variant appearance in text: rs459552

PubMed Link: 27087319

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline Genetic Variants in the Wnt/β-Catenin Pathway as Predictors of Colorectal Cancer Risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Hildebrandt, Michelle A T MA; Reyes, Monica E ME; Lin, Moubin M; He, Yonggang Y; Nguyen, Son V SV; Hawk, Ernest T ET; Wu, Xifeng X

Publication Date: 2016-03

Variant appearance in text: rs459552

PubMed Link: 26809274

Variant Present in the following documents:

• Main text

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: rs459552

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.

F1000Research

Kalbfleisch, Ted T; Brock, Pamela P; Snow, Angela A; Neklason, Deborah D; Gowans, Gordon G; Klein, Jon J

Publication Date: 2015

Variant appearance in text: rs459552

PubMed Link: 26213617

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.

Genome Medicine

Lin, Yiing Y; Lin, Shin S; Baxter, Melanie D MD; Lin, Lawrence L; Kennedy, Susan M SM; Zhang, Zhengyan Z; Goodfellow, Paul J PJ; Chapman, William C WC; Davidson, Nicholas O NO

Publication Date: 2015

Variant appearance in text: rs459552

PubMed Link: 25941542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Oncotargets And Therapy

Lam, David Cl DC; Luo, Susan Y SY; Deng, Wen W; Kwan, Johnny Sh JSh; Rodriguez-Canales, Jaime J; Cheung, Annie Lm AL; Cheng, Grace Hw GH; Lin, Chi-Ho CH; Wistuba, Ignacio I II; Sham, Pak C PC; Wan, Thomas Sk TS; Tsao, Sai-Wah SW

Publication Date: 2015

Variant appearance in text: rs459552

PubMed Link: 25653542

Variant Present in the following documents:

• Main text
• ott-8-195.pdf

View BVdb publication page

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Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Plos One

Wang, Jingbo J; Wang, Xu X; Zhao, Mingjue M; Choo, Su Pin SP; Ong, Sin Jen SJ; Ong, Simon Y K SY; Chong, Samuel S SS; Teo, Yik Ying YY; Lee, Caroline G L CG

Publication Date: 2014

Variant appearance in text: rs459552

PubMed Link: 25372392

Variant Present in the following documents:

• Main text

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs459552

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 9

View BVdb publication page

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APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Clinical Genetics

Snow, A K AK; Tuohy, T M F TM; Sargent, N R NR; Smith, L J LJ; Burt, R W RW; Neklason, D W DW

Publication Date: 2015-10

Variant appearance in text: rs459552

PubMed Link: 25243319

Variant Present in the following documents:

• Main text

View BVdb publication page

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Wnt signaling pathway pharmacogenetics in non-small cell lung cancer.

The Pharmacogenomics Journal

Stewart, D J DJ; Chang, D W DW; Ye, Y Y; Spitz, M M; Lu, C C; Shu, X X; Wampfler, J A JA; Marks, R S RS; Garces, Y I YI; Yang, P P; Wu, X X

Publication Date: 2014-12

Variant appearance in text: rs459552

PubMed Link: 24980784

Variant Present in the following documents:

• Main text

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: rs459552

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 3
• pone.0094554.s002.xlsx, sheet 2
• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs459552

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

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An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.

Molecular Diagnosis & Therapy

Mostowska, Adrianna A; Pawlik, Piotr P; Sajdak, Stefan S; Markowska, Janina J; Pawałowska, Monika M; Lianeri, Margarita M; Jagodzinski, Paweł P PP

Publication Date: 2014-02

Variant appearance in text: rs459552

PubMed Link: 24078348

Variant Present in the following documents:

• Main text

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customProDB: an R package to generate customized protein databases from RNA-Seq data for proteomics search.

Bioinformatics (Oxford, England)

Wang, Xiaojing X; Zhang, Bing B

Publication Date: 2013-12-15

Variant appearance in text: rs459552

PubMed Link: 24058055

Variant Present in the following documents:

• supp_btt543_supplementary_file1_customProDB.pdf

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Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Plos One

Picelli, Simone S; Lorenzo Bermejo, Justo J; Chang-Claude, Jenny J; Hoffmeister, Michael M; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; , ; Naccarati, Alessio A; Pardini, Barbara B; Vodickova, Ludmila L; Müller, Heiko H; Talseth-Palmer, Bente A BA; Stibbard, Geoffrey G; Peterlongo, Paolo P; Nici, Carmela C; Veneroni, Silvia S; Li, Li L; Casey, Graham G; Tenesa, Albert A; Farrington, Susan M SM; Tomlinson, Ian I; Moreno, Victor V; van Wezel, Tom T; Wijnen, Juul J; Dunlop, Malcolm M; Radice, Paolo P; Scott, Rodney J RJ; Vodicka, Pavel P; Ruiz-Ponte, Clara C; Brenner, Hermann H; Buch, Stephan S; Völzke, Henry H; Hampe, Jochen J; Schafmayer, Clemens C; Lindblom, Annika A

Publication Date: 2013

Variant appearance in text: rs459552

PubMed Link: 24039736

Variant Present in the following documents:

• Main text

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Genetic variations in stem cell-related genes and colorectal cancer prognosis.

Journal Of Gastrointestinal Cancer

Yang, Hushan H; Qu, Falin F; Myers, Ronald E RE; Bao, Guoqiang G; Hyslop, Terry T; Hu, Guang G; Fei, Fei F; Xing, Jinliang J

Publication Date: 2012-12

Variant appearance in text: rs459552

PubMed Link: 22528324

Variant Present in the following documents:

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Increased variance in germline allele-specific expression of APC associates with colorectal cancer.

Gastroenterology

Curia, Maria Cristina MC; De Iure, Sabrina S; De Lellis, Laura L; Veschi, Serena S; Mammarella, Sandra S; White, Marquitta J MJ; Bartlett, Jacquelaine J; Di Iorio, Angelo A; Amatetti, Cristina C; Lombardo, Marco M; Di Gregorio, Patrizia P; Battista, Pasquale P; Mariani-Costantini, Renato R; Williams, Scott M SM; Cama, Alessandro A

Publication Date: 2012-01

Variant appearance in text: rs459552

PubMed Link: 21995949

Variant Present in the following documents:

• Main text

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Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.

European Journal Of Cancer (Oxford, England : 1990)

Wong, Hui-Lee HL; Peters, Ulrike U; Hayes, Richard B RB; Huang, Wen-Yi WY; Schatzkin, Arthur A; Bresalier, Robert S RS; Velie, Ellen M EM; Brody, Lawrence C LC

Publication Date: 2010-09

Variant appearance in text: rs459552

PubMed Link: 20510605

Variant Present in the following documents:

• Main text

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Molecular genetic studies of gene identification for osteoporosis: the 2009 update.

Endocrine Reviews

Xu, Xiang-Hong XH; Dong, Shan-Shan SS; Guo, Yan Y; Yang, Tie-Lin TL; Lei, Shu-Feng SF; Papasian, Christopher J CJ; Zhao, Ming M; Deng, Hong-Wen HW

Publication Date: 2010-08

Variant appearance in text: rs459552

PubMed Link: 20357209

Variant Present in the following documents:

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APC gene mutations in Chinese familial adenomatous polyposis patients.

World Journal Of Gastroenterology

Sheng, Jian-Qiu JQ; Cui, Wei-Jia WJ; Fu, Lei L; Jin, Peng P; Han, Ying Y; Li, Shu-Jun SJ; Fan, Ru-Ying RY; Li, Ai-Qin AQ; Zhang, Ming-Zhi MZ; Li, Shi-Rong SR

Publication Date: 2010-03-28

Variant appearance in text: rs459552

PubMed Link: 20333795

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Analysis of candidate genes in occurrence and growth of colorectal adenomas.

Journal Of Oncology

Olschwang, Sylviane S; Vernerey, Déwi D; Cottet, Vanessa V; Pariente, Alexandre A; Nalet, Bernard B; Lafon, Jacques J; Faivre, Jean J; Laurent-Puig, Pierre P; Bonithon-Kopp, Claire C; Bonaiti-Pellié, Catherine C

Publication Date: 2009

Variant appearance in text: rs459552

PubMed Link: 19888426

Variant Present in the following documents:

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Candidate gene analysis of femoral neck trabecular and cortical volumetric bone mineral density in older men.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Yerges, Laura M LM; Klei, Lambertus L; Cauley, Jane A JA; Roeder, Kathryn K; Kammerer, Candace M CM; Ensrud, Kristine E KE; Nestlerode, Cara S CS; Lewis, Cora C; Lang, Thomas F TF; Barrett-Connor, Elizabeth E; Moffett, Susan P SP; Hoffman, Andrew R AR; Ferrell, Robert E RE; Orwoll, Eric S ES; Zmuda, Joseph M JM; ,

Publication Date: 2010-02

Variant appearance in text: rs459552

PubMed Link: 19619005

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High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Yerges, Laura M LM; Klei, Lambertus L; Cauley, Jane A JA; Roeder, Kathryn K; Kammerer, Candace M CM; Moffett, Susan P SP; Ensrud, Kristine E KE; Nestlerode, Cara S CS; Marshall, Lynn M LM; Hoffman, Andrew R AR; Lewis, Cora C; Lang, Thomas F TF; Barrett-Connor, Elizabeth E; Ferrell, Robert E RE; Orwoll, Eric S ES; Zmuda, Joseph M JM; ,

Publication Date: 2009-12

Variant appearance in text: rs459552

PubMed Link: 19453261

Variant Present in the following documents:

• Main text

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Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

Mutation Research

Slattery, Martha L ML; Wolff, Roger K RK; Curtin, Karen K; Fitzpatrick, Frank F; Herrick, Jennifer J; Potter, John D JD; Caan, Bette J BJ; Samowitz, Wade S WS

Publication Date: 2009-01-15

Variant appearance in text: rs459552

PubMed Link: 18992263

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Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Wang, Xianshu X; Goode, Ellen L EL; Fredericksen, Zachary S ZS; Vierkant, Robert A RA; Pankratz, V Shane VS; Liu-Mares, Wen W; Rider, David N DN; Vachon, Celine M CM; Cerhan, James R JR; Olson, Janet E JE; Couch, Fergus J FJ

Publication Date: 2008-08

Variant appearance in text: rs459552

PubMed Link: 18708403

Variant Present in the following documents:

• Main text

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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: rs459552

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Bmc Cancer

Chen, Shee-Ping SP; Tsai, Shih-Tzu ST; Jao, Shu-Wen SW; Huang, Yen-Lun YL; Chao, Yu-Chen YC; Chen, Yi-Lin YL; Wu, Chang-Chieh CC; Lin, Shinn-Zong SZ; Harn, Horng-Jyh HJ

Publication Date: 2006-03-29

Variant appearance in text: rs459552

PubMed Link: 16569251

Variant Present in the following documents:

• 1471-2407-6-83.pdf

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