Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PTEN: 605C>T; Thr202Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1085308053

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: PTEN: T202I

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Genome Medicine

Matreyek, Kenneth A KA; Stephany, Jason J JJ; Ahler, Ethan E; Fowler, Douglas M DM

Publication Date: 2021-10-14

Variant appearance in text: PTEN: Thr202Ile

PubMed Link: 34649609

Variant Present in the following documents:

• Main text
• 13073_2021_Article_984.pdf

View BVdb publication page

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A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.

Plos Genetics

Ganguly, Payel P; Madonsela, Landiso L; Chao, Jesse T JT; Loewen, Christopher J R CJR; O'Connor, Timothy P TP; Verheyen, Esther M EM; Allan, Douglas W DW

Publication Date: 2021-09

Variant appearance in text: PTEN: T202I

PubMed Link: 34492006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: T202I

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: T202I

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications

Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K

Publication Date: 2020-04-29

Variant appearance in text: PTEN: T202I

PubMed Link: 32350270

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15943.pdf

View BVdb publication page

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Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Molecular And Clinical Oncology

Yotsumoto, Yuka Y; Harada, Atsuko A; Tsugawa, Jiro J; Ikura, Yoshihiro Y; Utsunomiya, Hidetsuna H; Miyatake, Satoko S; Matsumoto, Naomichi N; Kanemura, Yonehiro Y; Hashimoto-Tamaoki, Tomoko T

Publication Date: 2020-04

Variant appearance in text: PTEN: T202I

PubMed Link: 32190315

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal

Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM

Publication Date: 2020-11

Variant appearance in text: PTEN: T202I

PubMed Link: 32150788

Variant Present in the following documents:

• Main text
• FEBS-287-4848.pdf

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ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: PTEN: T202I

PubMed Link: 31101826

Variant Present in the following documents:

• Main text
• 41467_2019_9979_MOESM2_ESM.pdf
• 41467_2019_Article_9979.pdf

View BVdb publication page

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Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Oncotarget

Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R

Publication Date: 2017-09-29

Variant appearance in text: PTEN: 605C>T

PubMed Link: 29100278

Variant Present in the following documents:

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: PTEN: T202I

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s013.xlsx, sheet 3
• pone.0127146.s014.xlsx, sheet 3

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: PTEN: 605C>T; Thr202Ile

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

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Targeting EGFR/HER2 pathways enhances the antiproliferative effect of gemcitabine in biliary tract and gallbladder carcinomas.

Bmc Cancer

Pignochino, Ymera Y; Sarotto, Ivana I; Peraldo-Neia, Caterina C; Penachioni, Junia Y JY; Cavalloni, Giuliana G; Migliardi, Giorgia G; Casorzo, Laura L; Chiorino, Giovanna G; Risio, Mauro M; Bardelli, Alberto A; Aglietta, Massimo M; Leone, Francesco F

Publication Date: 2010-11-18

Variant appearance in text: PTEN: T202I

PubMed Link: 21087480

Variant Present in the following documents:

• Main text
• 1471-2407-10-631.pdf

View BVdb publication page

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