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: 829dup; Thr277fs

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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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases

Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,

Publication Date: 2022-02-28

Variant appearance in text: PTEN: 829dup; Thr277Asnfs*21

PubMed Link: 35227301

Variant Present in the following documents:

• 13023_2021_2079_MOESM1_ESM.pdf

View BVdb publication page

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Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.

Nature Communications

Yamaguchi, Manako M; Nakaoka, Hirofumi H; Suda, Kazuaki K; Yoshihara, Kosuke K; Ishiguro, Tatsuya T; Yachida, Nozomi N; Saito, Kyota K; Ueda, Haruka H; Sugino, Kentaro K; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Revathidevi, Sundaramoorthy S; Motoyama, Teiichi T; Tainaka, Kazuki K; Verhaak, Roel G W RGW; Inoue, Ituro I; Enomoto, Takayuki T

Publication Date: 2022-02-17

Variant appearance in text: PTEN: T277NfsX21

PubMed Link: 35177608

Variant Present in the following documents:

• 41467_2022_Article_28568.pdf

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PTEN: T277Nfs*21

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology

Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z

Publication Date: 2020

Variant appearance in text: PTEN: T277Nfs*21

PubMed Link: 33747896

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: PTEN: 829dupA; T277Nfs*21

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: PTEN: T277Nfs*21

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: PTEN: T277Nfs*21

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Implementing a comprehensive translational oncology platform: from molecular testing to actionability.

Journal Of Translational Medicine

Mitri, Zahi I ZI; Parmar, Swapnil S; Johnson, Brett B; Kolodzie, Annette A; Keck, Jamie M JM; Morris, Max M; Guimaraes, Alexander R AR; Beckett, Brooke R BR; Borate, Uma U; Lopez, Charles D CD; Kemmer, Kathleen A KA; Alumkal, Joshi J JJ; Beer, Tomasz M TM; Corless, Christopher L CL; Mills, Gordon B GB; Gray, Joe W JW; Bergan, Raymond C RC

Publication Date: 2018-12-14

Variant appearance in text: PTEN: T277fs*21

PubMed Link: 30551737

Variant Present in the following documents:

• 12967_2018_1733_MOESM1_ESM.pdf

View BVdb publication page

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