Publications:

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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: ESR1: Ala87=; rs746432

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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Anticancer Potential of Silibinin Loaded Polymeric Nanoparticles against Breast Cancer Cells: Insight into the Apoptotic Genes Targets.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Pourgholi, Ali A; Dadashpour, Mehdi M; Mousapour, Akram A; Firouzi Amandi, Akram A; Zarghami, Nosratollah N

Publication Date: 2021-08-01

Variant appearance in text: rs746432

PubMed Link: 34452574

Variant Present in the following documents:

• APJCP-22-2587.pdf

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The effect of protein mutations on drug binding suggests ensuing personalised drug selection.

Scientific Reports

Wan, Shunzhou S; Kumar, Deepak D; Ilyin, Valentin V; Al Homsi, Ussama U; Sher, Gulab G; Knuth, Alexander A; Coveney, Peter V PV

Publication Date: 2021-06-29

Variant appearance in text: rs746432

PubMed Link: 34188094

Variant Present in the following documents:

• 41598_2021_92785_MOESM2_ESM.pdf

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Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences

Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2021-01-16

Variant appearance in text: rs746432

PubMed Link: 33467215

Variant Present in the following documents:

• Main text
• ijms-22-00878.pdf

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A Closer Look at Estrogen Receptor Mutations in Breast Cancer and Their Implications for Estrogen and Antiestrogen Responses.

International Journal Of Molecular Sciences

Clusan, Léa L; Le Goff, Pascale P; Flouriot, Gilles G; Pakdel, Farzad F

Publication Date: 2021-01-13

Variant appearance in text: rs746432

PubMed Link: 33451133

Variant Present in the following documents:

• Main text

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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: ESR1: Ala87Ala; rs746432

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

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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: ESR1: Ala87Ala; rs746432

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

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Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology

Kringel, Dario D; Kaunisto, Mari A MA; Lippmann, Catharina C; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2018

Variant appearance in text: rs746432

PubMed Link: 30283335

Variant Present in the following documents:

• Main text
• fphar-09-01008.pdf

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: ESR1: A87A

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: ESR1: Ala87=; rs746432

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

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Polymorphisms in sex steroid receptors: From gene sequence to behavior.

Frontiers In Neuroendocrinology

Maney, Donna L DL

Publication Date: 2017-10

Variant appearance in text: rs746432

PubMed Link: 28705582

Variant Present in the following documents:

• Main text

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: N/A

PubMed Link: 27456059

Variant Present in the following documents:

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Silent Polymorphisms: Can the tRNA Population Explain Changes in Protein Properties?

Life (Basel, Switzerland)

Fernández-Calero, Tamara T; Cabrera-Cabrera, Florencia F; Ehrlich, Ricardo R; Marín, Mónica M

Publication Date: 2016-02-17

Variant appearance in text: rs746432

PubMed Link: 26901226

Variant Present in the following documents:

• Main text
• life-06-00009.pdf

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ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer.

Breast Cancer Research And Treatment

Leyland-Jones, Brian B; Gray, Kathryn P KP; Abramovitz, Mark M; Bouzyk, Mark M; Young, Brandon B; Long, Bradley B; Kammler, Roswitha R; Dell'Orto, Patrizia P; Biasi, Maria Olivia MO; Thürlimann, Beat B; Harvey, Vernon V; Neven, Patrick P; Arnould, Laurent L; Maibach, Rudolf R; Price, Karen N KN; Coates, Alan S AS; Goldhirsch, Aron A; Gelber, Richard D RD; Pagani, Olivia O; Viale, Giuseppe G; Rae, James M JM; Regan, Meredith M MM; ,

Publication Date: 2015-12

Variant appearance in text: rs746432

PubMed Link: 26590813

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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ESR1 Gene Polymorphisms and Prostate Cancer Risk: A HuGE Review and Meta-Analysis.

Plos One

Wang, Yu-Mei YM; Liu, Zu-Wang ZW; Guo, Jing-Bo JB; Wang, Xiao-Fang XF; Zhao, Xin-Xin XX; Zheng, Xuan X

Publication Date: 2013

Variant appearance in text: rs746432

PubMed Link: 23805288

Variant Present in the following documents:

• Main text
• pone.0066999.pdf

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Estrogen receptors and human disease: an update.

Archives Of Toxicology

Burns, Katherine A KA; Korach, Kenneth S KS

Publication Date: 2012-10

Variant appearance in text: rs746432

PubMed Link: 22648069

Variant Present in the following documents:

• Main text

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A review of estrogen receptor alpha gene (ESR1) polymorphisms, mood, and cognition.

Menopause (New York, N.Y.)

Sundermann, Erin E EE; Maki, Pauline M PM; Bishop, Jeffrey R JR

Publication Date: 2010-07

Variant appearance in text: rs746432

PubMed Link: 20616674

Variant Present in the following documents:

• Main text

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Genetic polymorphisms of estrogen receptors alpha and beta and the risk of developing prostate cancer.

Plos One

Chae, Young Kwang YK; Huang, Han-Yao HY; Strickland, Paul P; Hoffman, Sandra C SC; Helzlsouer, Kathy K

Publication Date: 2009-08-05

Variant appearance in text: rs746432

PubMed Link: 19654868

Variant Present in the following documents:

• Main text

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Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease.

Bmc Cancer

Gallicchio, Lisa L; Berndt, Sonja I SI; McSorley, Meghan A MA; Newschaffer, Craig J CJ; Thuita, Lucy W LW; Argani, Pedram P; Hoffman, Sandra C SC; Helzlsouer, Kathy J KJ

Publication Date: 2006-06-29

Variant appearance in text: N/A

PubMed Link: 16808847

Variant Present in the following documents:

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