Publications:

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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: D252N

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: PTEN: 754G>A; Asp252Asn

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: D252N

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Cold Spring Harbor Molecular Case Studies

Xu, Bing B; Amallraja, Anu A; Swaminathan, Padmapriya P; Elsey, Rachel R; Davis, Christel C; Theel, Stephanie S; Viet, Sarah S; Petersen, Jason J; Krie, Amy A; Davies, Gareth G; Williams, Casey B CB; Ehli, Erik E; Meißner, Tobias T

Publication Date: 2020-12

Variant appearance in text: PTEN: 754G>A; D252N

PubMed Link: 33008833

Variant Present in the following documents:

• MCS005629Xu.pdf
• supp_mcs.a005629_Supplemental_Files_1-5.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PTEN: D252N

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: PTEN: 754G>A; A252T

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

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Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Frontiers In Pediatrics

Marks, Lianna J LJ; Oberg, Jennifer A JA; Pendrick, Danielle D; Sireci, Anthony N AN; Glasser, Chana C; Coval, Carrie C; Zylber, Rebecca J RJ; Chung, Wendy K WK; Pang, Jiuhong J; Turk, Andrew T AT; Hsiao, Susan J SJ; Mansukhani, Mahesh M MM; Glade Bender, Julia L JL; Kung, Andrew L AL; Sulis, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: PTEN: 754G>A

PubMed Link: 29312904

Variant Present in the following documents:

• fped-05-00265.pdf

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Mitochondrial genome variation and prostate cancer: a review of the mutational landscape and application to clinical management.

Oncotarget

Kalsbeek, Anton M F AMF; Chan, Eva K F EKF; Corcoran, Niall M NM; Hovens, Christopher M CM; Hayes, Vanessa M VM

Publication Date: 2017-09-19

Variant appearance in text: PTEN: D252N

PubMed Link: 29050365

Variant Present in the following documents:

• Main text

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: PTEN: 754G>A; A252T

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

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Compound EGFR mutation is frequently detected with co-mutations of actionable genes and associated with poor clinical outcome in lung adenocarcinoma.

Cancer Biology & Therapy

Kim, Eun Young EY; Cho, Eun Na EN; Park, Heae Surng HS; Hong, Ji Young JY; Lim, Seri S; Youn, Jong Pil JP; Hwang, Seung Yong SY; Chang, Yoon Soo YS

Publication Date: 2016

Variant appearance in text: PTEN: 754G>A

PubMed Link: 26785607

Variant Present in the following documents:

• kcbt-17-03-1139235.pdf

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Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy.

International Journal Of Clinical And Experimental Pathology

Tang, Chao C; Guo, Jun J; Chen, Hong H; Yao, Cheng-Jun CJ; Zhuang, Dong-Xiao DX; Wang, Yin Y; Tang, Wei-Jun WJ; Ren, Guang G; Yao, Yu Y; Wu, Jin-Song JS; Mao, Ying Y; Zhou, Liang-Fu LF

Publication Date: 2015

Variant appearance in text: PTEN: ASP252ASN

PubMed Link: 26191234

Variant Present in the following documents:

• Main text

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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: 754G>A; Asp252Asn

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

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Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres.

Journal Of Oncology

Caldera, Valentina V; Mellai, Marta M; Annovazzi, Laura L; Piazzi, Angela A; Lanotte, Michele M; Cassoni, Paola P; Schiffer, Davide D

Publication Date: 2011

Variant appearance in text: PTEN: 754G>A; D252N

PubMed Link: 21869887

Variant Present in the following documents:

• Main text
• JO2011-314962.pdf

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