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: 209+5G>A

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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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Annals Of Neurology

Shao, Diane D DD; Achkar, Christelle M CM; Lai, Abbe A; Srivastava, Siddharth S; Doan, Ryan N RN; Rodan, Lance H LH; Chen, Allen Y AY; , ; Poduri, Annapurna A; Yang, Edward E; Walsh, Christopher A CA

Publication Date: 2020-12

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 32959437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children.

Cancers

Plamper, Michaela M; Gohlke, Bettina B; Schreiner, Felix F; Woelfle, Joachim J

Publication Date: 2019-07-11

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 31336731

Variant Present in the following documents:

• Main text
• cancers-11-00975.pdf

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Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation

Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C

Publication Date: 2017-10

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 28677221

Variant Present in the following documents:

• Main text
• HUMU-38-1372.pdf
• HUMU-38-1372-s001.pdf

View BVdb publication page

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Mutations of KRAS/NRAS/BRAF predict cetuximab resistance in metastatic colorectal cancer patients.

Oncotarget

Hsu, Hung-Chih HC; Thiam, Tan Kien TK; Lu, Yen-Jung YJ; Yeh, Chien Yuh CY; Tsai, Wen-Sy WS; You, Jeng Fu JF; Hung, Hsin Yuan HY; Tsai, Chi-Neu CN; Hsu, An A; Chen, Hua-Chien HC; Chen, Shu-Jen SJ; Yang, Tsai-Sheng TS

Publication Date: 2016-04-19

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 26989027

Variant Present in the following documents:

• oncotarget-07-22257-s001.pdf

View BVdb publication page

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

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Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

Molecular Psychiatry

Frazier, T W TW; Embacher, R R; Tilot, A K AK; Koenig, K K; Mester, J J; Eng, C C

Publication Date: 2015-09

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 25288137

Variant Present in the following documents:

View BVdb publication page

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Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mester, Jessica J; Eng, Charis C

Publication Date: 2012-09

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 22595938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

Breast Cancer Research : Bcr

Banneau, Guillaume G; Guedj, Mickaël M; MacGrogan, Gaëtan G; de Mascarel, Isabelle I; Velasco, Valerie V; Schiappa, Renaud R; Bonadona, Valerie V; David, Albert A; Dugast, Catherine C; Gilbert-Dussardier, Brigitte B; Ingster, Olivier O; Vabres, Pierre P; Caux, Frederic F; de Reynies, Aurelien A; Iggo, Richard R; Sevenet, Nicolas N; Bonnet, Françoise F; Longy, Michel M

Publication Date: 2010

Variant appearance in text: PTEN: 209+5G>A

PubMed Link: 20712882

Variant Present in the following documents:

• Main text
• bcr2626.pdf

View BVdb publication page

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