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: PIK3CA: 335T>A; Ile112Asn

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: PIK3CA: I112N

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 5

View BVdb publication page

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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

Hgg Advances

Koutlas, Ioannis G IG; Anbinder, Ana-Lia AL; Alshagroud, Rana R; Rodrigues Cavalcante, Ana Sueli AS; Al Kindi, Mohammed M; Crenshaw, Molly M MM; Sapp, Julie C JC; Kondolf, Hannah H; Lindhurst, Marjorie J MJ; Dudley, Jeffrey N JN; Johnston, Jennifer J JJ; Ryan, Elyse E; Rafferty, Keith K; Ganguly, Arupa A; Biesecker, Leslie G LG

Publication Date: 2020-10-22

Variant appearance in text: PIK3CA: 335T>A

PubMed Link: 35047831

Variant Present in the following documents:

• Main text
• main.pdf

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: PIK3CA: 335T>A; I112N

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PIK3CA: I112N

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1
• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs863225460

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.

Scientific Reports

Kleftogiannis, Dimitrios D; Ho, Danliang D; Liew, Jun Xian JX; Poon, Polly S Y PSY; Gan, Anna A; Ng, Raymond Chee-Hui RC; Tan, Benita Kiat-Tee BK; Tay, Kiang Hiong KH; Lim, Swee H SH; Tan, Gek San GS; Shih, Chih Chuan CC; Lim, Tony Kiat-Hon TK; Lee, Ann Siew-Gek AS; Tan, Iain Beehuat IB; Yap, Yoon-Sim YS; Ng, Sarah B SB

Publication Date: 2020-10-08

Variant appearance in text: PIK3CA: I112N

PubMed Link: 33033274

Variant Present in the following documents:

• Main text
• 41598_2020_Article_72818.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: PIK3CA: Ile112Asn

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: PIK3CA: I112N

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science

Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T

Publication Date: 2019-04

Variant appearance in text: PIK3CA: I112N

PubMed Link: 30742731

Variant Present in the following documents:

• CAS-110-1480-s003.xlsx, sheet 3

View BVdb publication page

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Systematic Functional Annotation of Somatic Mutations in Cancer.

Cancer Cell

Ng, Patrick Kwok-Shing PK; Li, Jun J; Jeong, Kang Jin KJ; Shao, Shan S; Chen, Hu H; Tsang, Yiu Huen YH; Sengupta, Sohini S; Wang, Zixing Z; Bhavana, Venkata Hemanjani VH; Tran, Richard R; Soewito, Stephanie S; Minussi, Darlan Conterno DC; Moreno, Daniela D; Kong, Kathleen K; Dogruluk, Turgut T; Lu, Hengyu H; Gao, Jianjiong J; Tokheim, Collin C; Zhou, Daniel Cui DC; Johnson, Amber M AM; Zeng, Jia J; Ip, Carman Ka Man CKM; Ju, Zhenlin Z; Wester, Matthew M; Yu, Shuangxing S; Li, Yongsheng Y; Vellano, Christopher P CP; Schultz, Nikolaus N; Karchin, Rachel R; Ding, Li L; Lu, Yiling Y; Cheung, Lydia Wai Ting LWT; Chen, Ken K; Shaw, Kenna R KR; Meric-Bernstam, Funda F; Scott, Kenneth L KL; Yi, Song S; Sahni, Nidhi N; Liang, Han H; Mills, Gordon B GB

Publication Date: 2018-03-12

Variant appearance in text: PIK3CA: I112N

PubMed Link: 29533785

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: PIK3CA: I112N

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 3

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: PIK3CA: I112N

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 19

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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Human Mutation

Di Donato, Nataliya N; Rump, Andreas A; Mirzaa, Ghayda M GM; Alcantara, Diana D; Oliver, Antony A; Schrock, Evelin E; Dobyns, William B WB; O'Driscoll, Mark M

Publication Date: 2016-03

Variant appearance in text: PIK3CA: 335T>A

PubMed Link: 26593112

Variant Present in the following documents:

• Main text

View BVdb publication page

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ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Nature Genetics

Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S

Publication Date: 2013-12

Variant appearance in text: PIK3CA: I112N

PubMed Link: 24185512

Variant Present in the following documents:

• NIHMS531250-supplement-2.xlsx, sheet 1

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PIK3CA: I112N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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