Publications:

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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: rs2016347

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Pharmacogenetics Role of Genetic Variants in Immune-Related Factors: A Systematic Review Focusing on mCRC.

Pharmaceutics

Scarabel, Lucia L; Bignucolo, Alessia A; Toffoli, Giuseppe G; Cecchin, Erika E; De Mattia, Elena E

Publication Date: 2022-11-15

Variant appearance in text: rs2016347

PubMed Link: 36432658

Variant Present in the following documents:

• Main text
• pharmaceutics-14-02468.pdf

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A common IGF1R gene variant predicts later life breast cancer risk in women with preeclampsia.

Breast Cancer Research And Treatment

Powell, Mark M; Fuller, Sophia S; Gunderson, Erica E; Benz, Christopher C

Publication Date: 2022-11-04

Variant appearance in text: rs2016347

PubMed Link: 36331687

Variant Present in the following documents:

• Main text
• 10549_2022_Article_6789.pdf

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Reduced cardiovascular risks in women with endometriosis or polycystic ovary syndrome carrying a common functional IGF1R variant.

Human Reproduction (Oxford, England)

Powell, Mark J MJ; Fuller, Sophia S; Gunderson, Erica P EP; Benz, Christopher C CC

Publication Date: 2022-05-03

Variant appearance in text: rs2016347

PubMed Link: 35362533

Variant Present in the following documents:

• Main text
• deac059.pdf

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Molecular markers associated with the outcome of tamoxifen treatment in estrogen receptor-positive breast cancer patients: scoping review and in silico analysis.

Discover. Oncology

Dal Berto, Maiquidieli M; Dos Santos, Giovana Tavares GT; Dos Santos, Aniúsca Vieira AV; Silva, Andrew Oliveira AO; Vargas, José Eduardo JE; Alves, Rafael José Vargas RJV; Barbisan, Fernanda F; da Cruz, Ivana Beatrice Mânica IBM; Bica, Claudia Giuliano CG

Publication Date: 2021-10-01

Variant appearance in text: rs2016347

PubMed Link: 35201456

Variant Present in the following documents:

• Main text
• 12672_2021_Article_432.pdf

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The Role of IGF/IGF-IR-Signaling and Extracellular Matrix Effectors in Bone Sarcoma Pathogenesis.

Cancers

Tzanakakis, George N GN; Giatagana, Eirini-Maria EM; Berdiaki, Aikaterini A; Spyridaki, Ioanna I; Hida, Kyoko K; Neagu, Monica M; Tsatsakis, Aristidis M AM; Nikitovic, Dragana D

Publication Date: 2021-05-19

Variant appearance in text: rs2016347

PubMed Link: 34069554

Variant Present in the following documents:

• Main text
• cancers-13-02478.pdf

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Single nucleotide polymorphisms (SNPs) in prostate cancer: its implications in diagnostics and therapeutics.

American Journal Of Translational Research

Allemailem, Khaled S KS; Almatroudi, Ahmad A; Alrumaihi, Faris F; Makki Almansour, Nahlah N; Aldakheel, Fahad M FM; Rather, Rafiq Ahmad RA; Afroze, Dil D; Rah, Bilal B

Publication Date: 2021

Variant appearance in text: rs2016347

PubMed Link: 34017579

Variant Present in the following documents:

• Main text

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miR‑589‑3p sponged by the lncRNA TINCR inhibits the proliferation, migration and invasion and promotes the apoptosis of breast cancer cells by suppressing the Akt pathway via IGF1R.

International Journal Of Molecular Medicine

Guo, Fangdong F; Zhu, Xiaoyu X; Zhao, Qingquan Q; Huang, Qirong Q

Publication Date: 2020-09

Variant appearance in text: rs2016347

PubMed Link: 32705168

Variant Present in the following documents:

• Main text
• ijmm-46-03-0989.pdf

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Insulin-Like Growth Factor 1 (IGF1) Pathway Member Polymorphisms Are Associated with Risk and Prognosis of Chondrosarcoma.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Xie, Hui H; Mao, Jian-Shu JS; Hu, Wei-Feng WF

Publication Date: 2020-04-21

Variant appearance in text: rs2016347

PubMed Link: 32314747

Variant Present in the following documents:

• Main text
• medscimonit-26-e923853.pdf

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Pregnancy Hypertension and a Commonly Inherited IGF1R Variant (rs2016347) Reduce Breast Cancer Risk by Enhancing Mammary Gland Involution.

Journal Of Oncology

Powell, Mark J MJ; Dufault, Suzanne M SM; Henry, Jill E JE; Allison, Anna C AC; Cora, Renata R; Benz, Christopher C CC

Publication Date: 2019

Variant appearance in text: rs2016347

PubMed Link: 31687025

Variant Present in the following documents:

• Main text
• JO2019-6018432.pdf

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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: rs2016347

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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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs2016347

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

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Functional IGF1R variant predicts breast cancer risk in women with preeclampsia in California Teachers Study.

Cancer Causes & Control : Ccc

Powell, Mark J MJ; Von Behren, Julie J; Neuhausen, Susan S; Reynolds, Peggy P; Benz, Christopher C CC

Publication Date: 2017-10

Variant appearance in text: rs2016347

PubMed Link: 28822014

Variant Present in the following documents:

• Main text
• 10552_2017_Article_942.pdf

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs2016347

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Single nucleotide polymorphisms in the IGF-IRS pathway are associated with outcome in mCRC patients enrolled in the FIRE-3 trial.

International Journal Of Cancer

Schirripa, Marta M; Zhang, Wu W; Heinemann, Volker V; Cao, Shu S; Okazaki, Satoshi S; Yang, Dongyun D; Loupakis, Fotios F; Berger, Martin D MD; Ning, Yan Y; Miyamoto, Yuji Y; Suenaga, Mitsukuni M; Gopez, Roel F RF; West, Jordan D JD; Hanna, Diana D; Barzi, Afsaneh A; Falcone, Alfredo A; Stintzing, Sebastian S; Lenz, Heinz-Josef HJ

Publication Date: 2017-07-15

Variant appearance in text: rs2016347

PubMed Link: 28369940

Variant Present in the following documents:

• Main text

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Insulin-like growth factor-1 signaling in renal cell carcinoma.

Bmc Cancer

Tracz, Adam F AF; Szczylik, Cezary C; Porta, Camillo C; Czarnecka, Anna M AM

Publication Date: 2016-07-12

Variant appearance in text: rs2016347

PubMed Link: 27405474

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2437.pdf

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Insulin-like growth factor 1 receptor expression and IGF1R 3129G > T polymorphism are associated with response to neoadjuvant chemotherapy in breast cancer patients: results from the NEOZOTAC trial (BOOG 2010-01).

Breast Cancer Research : Bcr

de Groot, Stefanie S; Charehbili, Ayoub A; van Laarhoven, Hanneke W M HW; Mooyaart, Antien L AL; Dekker-Ensink, N Geeske NG; van de Ven, Saskia S; Janssen, Laura G M LG; Swen, Jesse J JJ; Smit, Vincent T H B M VT; Heijns, Joan B JB; Kessels, Lonneke W LW; van der Straaten, Tahar T; Böhringer, Stefan S; Gelderblom, Hans H; van der Hoeven, Jacobus J M JJ; Guchelaar, Henk-Jan HJ; Pijl, Hanno H; Kroep, Judith R JR; ,

Publication Date: 2016-01-06

Variant appearance in text: rs2016347

PubMed Link: 26738606

Variant Present in the following documents:

• Main text
• 13058_2015_Article_663.pdf

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A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Bba Clinical

Jupe, Eldon R ER; Dalessandri, Kathie M KM; Mulvihill, John J JJ; Miike, Rei R; Knowlton, Nicholas S NS; Pugh, Thomas W TW; Zhao, Lue Ping LP; DeFreese, Daniele C DC; Manjeshwar, Sharmila S; Gramling, Bobby A BA; Wiencke, John K JK; Benz, Christopher C CC

Publication Date: 2014-12

Variant appearance in text: rs2016347

PubMed Link: 26673457

Variant Present in the following documents:

• Main text

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs2016347

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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The role of the insulin-like growth factor-1 system in breast cancer.

Molecular Cancer

Christopoulos, Panagiotis F PF; Msaouel, Pavlos P; Koutsilieris, Michael M

Publication Date: 2015-02-15

Variant appearance in text: rs2016347

PubMed Link: 25743390

Variant Present in the following documents:

• Main text
• 12943_2015_Article_291.pdf

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Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma.

Plos One

Yang, Pei-Wen PW; Hsieh, Min-Shu MS; Huang, Ya-Chuan YC; Hsieh, Ching-Yueh CY; Chiang, Tzu-Hsuan TH; Lee, Jang-Ming JM

Publication Date: 2014

Variant appearance in text: rs2016347

PubMed Link: 24945674

Variant Present in the following documents:

• Main text

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First pregnancy events and future breast density: modification by age at first pregnancy and specific VEGF and IGF1R gene variants.

Cancer Causes & Control : Ccc

Prebil, Lee Ann LA; Ereman, Rochelle R RR; Powell, Mark J MJ; Jamshidian, Farid F; Kerlikowske, Karla K; Shepherd, John A JA; Hurlbert, Marc S MS; Benz, Christopher C CC

Publication Date: 2014-07

Variant appearance in text: rs2016347

PubMed Link: 24801045

Variant Present in the following documents:

• Main text

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The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making.

Biomed Research International

Van den Broeck, Thomas T; Joniau, Steven S; Clinckemalie, Liesbeth L; Helsen, Christine C; Prekovic, Stefan S; Spans, Lien L; Tosco, Lorenzo L; Van Poppel, Hendrik H; Claessens, Frank F

Publication Date: 2014

Variant appearance in text: rs2016347

PubMed Link: 24701578

Variant Present in the following documents:

• Main text
• BMRI2014-627510.pdf

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Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.

Plos Genetics

Haataja, Ritva R; Karjalainen, Minna K MK; Luukkonen, Aino A; Teramo, Kari K; Puttonen, Hilkka H; Ojaniemi, Marja M; Varilo, Teppo T; Chaudhari, Bimal P BP; Plunkett, Jevon J; Murray, Jeffrey C JC; McCarroll, Steven A SA; Peltonen, Leena L; Muglia, Louis J LJ; Palotie, Aarno A; Hallman, Mikko M

Publication Date: 2011-02-03

Variant appearance in text: rs2016347

PubMed Link: 21304894

Variant Present in the following documents:

• Main text
• pgen.1001293.pdf

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Germline polymorphisms in genes involved in the IGF1 pathway predict efficacy of cetuximab in wild-type KRAS mCRC patients.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Winder, Thomas T; Zhang, Wu W; Yang, Dongyun D; Ning, Yan Y; Bohanes, Pierre P; Gerger, Armin A; Wilson, Peter M PM; Pohl, Alexandra A; Mauro, David J DJ; Langer, Christiane C; Rowinsky, Eric K EK; Lenz, Heinz-Josef HJ

Publication Date: 2010-11-15

Variant appearance in text: rs2016347

PubMed Link: 20935157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.

Bmc Medical Genomics

Biong, Margarethe M; Gram, Inger T IT; Brill, Ilene I; Johansen, Fredrik F; Solvang, Hiroko K HK; Alnaes, Grethe I G GI; Fagerheim, Toril T; Bremnes, Yngve Y; Chanock, Stephen J SJ; Burdett, Laurie L; Yeager, Meredith M; Ursin, Giske G; Kristensen, Vessela N VN

Publication Date: 2010-03-19

Variant appearance in text: rs2016347

PubMed Link: 20302654

Variant Present in the following documents:

• Main text
• 1755-8794-3-9.pdf

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Genetic variation in insulin-like growth factors and brain tumor risk.

Neuro-Oncology

Lönn, Stefan S; Rothman, Nathaniel N; Shapiro, William R WR; Fine, Howard A HA; Selker, Robert G RG; Black, Peter M PM; Loeffler, Jay S JS; Hutchinson, Amy A AA; Inskip, Peter D PD

Publication Date: 2008-08

Variant appearance in text: rs2016347

PubMed Link: 18562769

Variant Present in the following documents:

• Main text

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