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: 2740G>A; Gly914Arg

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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Using Tumor-Informed Circulating Tumor DNA (ctDNA)-Based Testing for Patients with Anal Squamous Cell Carcinoma.

The Oncologist

Azzi, Georges G; Tavallai, Mehrad M; Aushev, Vasily N VN; Koyen Malashevich, Allyson A; Botta, Gregory P GP; Tejani, Mohamedtaki A MA; Hanna, Diana D; Krinshpun, Shifra S; Malhotra, Meenakshi M; Jurdi, Adham A; Aleshin, Alexey A; Kasi, Pashtoon M PM

Publication Date: 2022-12-23

Variant appearance in text: PIK3CA: G914R

PubMed Link: 36562592

Variant Present in the following documents:

• oyac249.pdf

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: rs587776932

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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Metastatic colorectal cancer treatment response evaluation by ultra-deep sequencing of cell-free DNA and matched white blood cells.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

van 't Erve, Iris I; Medina, Jamie E JE; Leal, Alessandro A; Papp, Eniko E; Phallen, Jillian J; Adleff, Vilmos V; Chiao, Elaine Jiayuee EJ; Arun, Adith S AS; Bolhuis, Karen K; Simmons, John K JK; Karandikar, Aanavi A; Valkenburg, Kenneth C KC; Sausen, Mark M; Angiuoli, Samuel V SV; Scharpf, Robert B RB; Punt, Cornelis J A CJA; Meijer, Gerrit A GA; Velculescu, Victor E VE; Fijneman, Remond J A RJA

Publication Date: 2022-12-19

Variant appearance in text: PIK3CA: G914R

PubMed Link: 36534496

Variant Present in the following documents:

• ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx, sheet 7

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2
• Table_2.xlsx, sheet 3

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: PIK3CA: G914R

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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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: PIK3CA: G914R

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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Clinical and genetic analyses of patients with lateralized overgrowth.

Bmc Medical Genomics

Kim, Yoon-Myung YM; Lee, Yena Y; Choi, Yunha Y; Choi, In Hee IH; Heo, Sun Hee SH; Choi, Jung Min JM; Do, Hyo-Sang HS; Jang, Ja-Hyun JH; Yum, Mi-Sun MS; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2022-09-30

Variant appearance in text: PIK3CA: 2740G>A

PubMed Link: 36175890

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1362.pdf

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines

Diociaiuti, Andrea A; Rotunno, Roberta R; Pisaneschi, Elisa E; Cesario, Claudia C; Carnevale, Claudia C; Condorelli, Angelo Giuseppe AG; Rollo, Massimo M; Di Cecca, Stefano S; Quintarelli, Concetta C; Novelli, Antonio A; Zambruno, Giovanna G; El Hachem, May M

Publication Date: 2022-06-20

Variant appearance in text: PIK3CA: 2740G>A

PubMed Link: 35740480

Variant Present in the following documents:

• biomedicines-10-01460.pdf

View BVdb publication page

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Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One

Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM

Publication Date: 2022

Variant appearance in text: PIK3CA: G914R

PubMed Link: 35709138

Variant Present in the following documents:

• Main text
• pone.0267090.pdf

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: PIK3CA: 2740G>A; rs587776932

PubMed Link: 35665681

Variant Present in the following documents:

• mmc24.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: PIK3CA: 2740G>A

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4
• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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Targeting Myc-driven stress vulnerability in mutant KRAS colorectal cancer.

Molecular Biomedicine

Ruan, Hang H; Leibowitz, Brian J BJ; Peng, Yingpeng Y; Shen, Lin L; Chen, Lujia L; Kuang, Charlie C; Schoen, Robert E RE; Lu, Xinghua X; Zhang, Lin L; Yu, Jian J

Publication Date: 2022-03-21

Variant appearance in text: PIK3CA: G914R

PubMed Link: 35307764

Variant Present in the following documents:

• 43556_2022_70_MOESM1_ESM.pdf

View BVdb publication page

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Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Frontiers In Oncology

Jiang, Haiping H; Wang, Yinan Y; Xu, Hanlin H; Lei, Wei W; Yu, Xiaoyun X; Tian, Haiying H; Meng, Cong C; Wang, Xueying X; Zhao, Zicheng Z; Jin, Xiangfeng X

Publication Date: 2021

Variant appearance in text: PIK3CA: G914R; rs587776932

PubMed Link: 35186718

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome.

Frontiers In Genetics

Xu, Jing J; Liu, Mengyao M; Yuan, Hongtu H; Liu, Zengjun Z; Zhu, Dongyuan D

Publication Date: 2022

Variant appearance in text: PIK3CA: G914R

PubMed Link: 35154272

Variant Present in the following documents:

• Main text
• fgene-13-792466.pdf

View BVdb publication page

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Diagnostic Approach to Macrocephaly in Children.

Frontiers In Pediatrics

Accogli, Andrea A; Geraldo, Ana Filipa AF; Piccolo, Gianluca G; Riva, Antonella A; Scala, Marcello M; Balagura, Ganna G; Salpietro, Vincenzo V; Madia, Francesca F; Maghnie, Mohamad M; Zara, Federico F; Striano, Pasquale P; Tortora, Domenico D; Severino, Mariasavina M; Capra, Valeria V

Publication Date: 2021

Variant appearance in text: PIK3CA: Gly914Arg

PubMed Link: 35096710

Variant Present in the following documents:

• Main text
• fped-09-794069.pdf

View BVdb publication page

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Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine

Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM

Publication Date: 2022-01-10

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 35012638

Variant Present in the following documents:

• 13073_2021_990_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine

Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM

Publication Date: 2022-01-10

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 35012638

Variant Present in the following documents:

• 13073_2021_990_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: PIK3CA: G914R

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 31
• Table_1.xlsx, sheet 15

View BVdb publication page

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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Orphanet Journal Of Rare Diseases

Brouillard, Pascal P; Schlögel, Matthieu J MJ; Homayun Sepehr, Nassim N; Helaers, Raphaël R; Queisser, Angela A; Fastré, Elodie E; Boutry, Simon S; Schmitz, Sandra S; Clapuyt, Philippe P; Hammer, Frank F; Dompmartin, Anne A; Weitz-Tuoretmaa, Annamaria A; Laranne, Jussi J; Pasquesoone, Louise L; Vilain, Catheline C; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2021-06-10

Variant appearance in text: PIK3CA: G914R

PubMed Link: 34112235

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1898.pdf

View BVdb publication page

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Clinical Implication of Liquid Biopsy in Colorectal Cancer Patients Treated with Metastasectomy.

Cancers

Lee, Soohyeon S; Park, Young-Soo YS; Chang, Won-Jin WJ; Choi, Jung Yoon JY; Lim, Ahreum A; Kim, Boyeon B; Lee, Saet-Byeol SB; Lee, Jong-Won JW; Kim, Seon-Hahn SH; Kim, Jin J; Kwak, Jung-Myun JM; Yoon, Kyung-Chul KC; Lee, Sung-Ho SH; Kim, Yeul Hong YH

Publication Date: 2021-05-06

Variant appearance in text: PIK3CA: G914R

PubMed Link: 34066481

Variant Present in the following documents:

• Main text
• cancers-13-02231.pdf

View BVdb publication page

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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: PIK3CA: G914R

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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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Brain Communications

Stutterd, Chloe A CA; Brock, Stefanie S; Stouffs, Katrien K; Fanjul-Fernandez, Miriam M; Lockhart, Paul J PJ; McGillivray, George G; Mandelstam, Simone S; Pope, Kate K; Delatycki, Martin B MB; Jansen, Anna A; Leventer, Richard J RJ

Publication Date: 2021

Variant appearance in text: PIK3CA: 2740G>A

PubMed Link: 33604570

Variant Present in the following documents:

• Main text
• fcaa221.pdf

View BVdb publication page

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Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Breast Cancer Research : Bcr

Riedlinger, Gregory M GM; Joshi, Sonali S; Hirshfield, Kim M KM; Barnard, Nicola N; Ganesan, Shridar S

Publication Date: 2021-01-13

Variant appearance in text: PIK3CA: G914R

PubMed Link: 33441174

Variant Present in the following documents:

• Main text
• 13058_2020_Article_1385.pdf

View BVdb publication page

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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: PIK3CA: 2740G>A; G914R

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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Beyond TNBC: Repositioning of Clofazimine Against a Broad Range of Wnt-Dependent Cancers.

Frontiers In Oncology

Xu, Jiabin J; Koval, Alexey A; Katanaev, Vladimir L VL

Publication Date: 2020

Variant appearance in text: PIK3CA: G914R

PubMed Link: 33363033

Variant Present in the following documents:

• Main text
• fonc-10-602817.pdf

View BVdb publication page

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

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

Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,

Publication Date: 2021-03

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 33149276

Variant Present in the following documents:

• 41436_2020_1021_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine

Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M

Publication Date: 2020-10-22

Variant appearance in text: PIK3CA: 2740G>A; G914R; rs587776932

PubMed Link: 33105631

Variant Present in the following documents:

• Main text
• jcm-09-03387.pdf

View BVdb publication page

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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Nature Medicine

Jin, Sheng Chih SC; Dong, Weilai W; Kundishora, Adam J AJ; Panchagnula, Shreyas S; Moreno-De-Luca, Andres A; Furey, Charuta G CG; Allocco, August A AA; Walker, Rebecca L RL; Nelson-Williams, Carol C; Smith, Hannah H; Dunbar, Ashley A; Conine, Sierra S; Lu, Qiongshi Q; Zeng, Xue X; Sierant, Michael C MC; Knight, James R JR; Sullivan, William W; Duy, Phan Q PQ; DeSpenza, Tyrone T; Reeves, Benjamin C BC; Karimy, Jason K JK; Marlier, Arnaud A; Castaldi, Christopher C; Tikhonova, Irina R IR; Li, Boyang B; Peña, Helena Perez HP; Broach, James R JR; Kabachelor, Edith M EM; Ssenyonga, Peter P; Hehnly, Christine C; Ge, Li L; Keren, Boris B; Timberlake, Andrew T AT; Goto, June J; Mangano, Francesco T FT; Johnston, James M JM; Butler, William E WE; Warf, Benjamin C BC; Smith, Edward R ER; Schiff, Steven J SJ; Limbrick, David D DD; Heuer, Gregory G; Jackson, Eric M EM; Iskandar, Bermans J BJ; Mane, Shrikant S; Haider, Shozeb S; Guclu, Bulent B; Bayri, Yasar Y; Sahin, Yener Y; Duncan, Charles C CC; Apuzzo, Michael L J MLJ; DiLuna, Michael L ML; Hoffman, Ellen J EJ; Sestan, Nenad N; Ment, Laura R LR; Alper, Seth L SL; Bilguvar, Kaya K; Geschwind, Daniel H DH; Günel, Murat M; Lifton, Richard P RP; Kahle, Kristopher T KT

Publication Date: 2020-11

Variant appearance in text: N/A

PubMed Link: 33077954

Variant Present in the following documents:

View BVdb publication page

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International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Nature Reviews. Neurology

Oegema, Renske R; Barakat, Tahsin Stefan TS; Wilke, Martina M; Stouffs, Katrien K; Amrom, Dina D; Aronica, Eleonora E; Bahi-Buisson, Nadia N; Conti, Valerio V; Fry, Andrew E AE; Geis, Tobias T; Andres, David Gomez DG; Parrini, Elena E; Pogledic, Ivana I; Said, Edith E; Soler, Doriette D; Valor, Luis M LM; Zaki, Maha S MS; Mirzaa, Ghayda G; Dobyns, William B WB; Reiner, Orly O; Guerrini, Renzo R; Pilz, Daniela T DT; Hehr, Ute U; Leventer, Richard J RJ; Jansen, Anna C AC; Mancini, Grazia M S GMS; Di Donato, Nataliya N

Publication Date: 2020-11

Variant appearance in text: PIK3CA: Gly914Arg

PubMed Link: 32895508

Variant Present in the following documents:

• 41582_2020_395_MOESM1_ESM.pdf

View BVdb publication page

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International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Nature Reviews. Neurology

Oegema, Renske R; Barakat, Tahsin Stefan TS; Wilke, Martina M; Stouffs, Katrien K; Amrom, Dina D; Aronica, Eleonora E; Bahi-Buisson, Nadia N; Conti, Valerio V; Fry, Andrew E AE; Geis, Tobias T; Andres, David Gomez DG; Parrini, Elena E; Pogledic, Ivana I; Said, Edith E; Soler, Doriette D; Valor, Luis M LM; Zaki, Maha S MS; Mirzaa, Ghayda G; Dobyns, William B WB; Reiner, Orly O; Guerrini, Renzo R; Pilz, Daniela T DT; Hehr, Ute U; Leventer, Richard J RJ; Jansen, Anna C AC; Mancini, Grazia M S GMS; Di Donato, Nataliya N

Publication Date: 2020-11

Variant appearance in text: PIK3CA: Gly914Arg

PubMed Link: 32895508

Variant Present in the following documents:

• 41582_2020_395_MOESM1_ESM.pdf

View BVdb publication page

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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Orphanet Journal Of Rare Diseases

Park, Hyun Jin HJ; Shin, Chang Ho CH; Yoo, Won Joon WJ; Cho, Tae-Joon TJ; Kim, Man Jin MJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Lee, Jeong Ho JH; Sim, Nam Suk NS; Ko, Jung Min JM

Publication Date: 2020-08-10

Variant appearance in text: PIK3CA: 2740G>A

PubMed Link: 32778138

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1480.pdf

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: PIK3CA: G914R

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: N/A

PubMed Link: 32686686

Variant Present in the following documents:

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Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine

Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R

Publication Date: 2020-07-09

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 32646514

Variant Present in the following documents:

• 13073_2020_753_MOESM2_ESM.xlsx, sheet 1

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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Frontiers In Genetics

Hu, Xuyun X; Guo, Ruolan R; Guo, Jun J; Qi, Zhan Z; Li, Wei W; Hao, Chanjuan C

Publication Date: 2020

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 32595695

Variant Present in the following documents:

• Main text
• fgene-11-00473.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: N/A

PubMed Link: 32579932

Variant Present in the following documents:

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Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One

Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL

Publication Date: 2020

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 32520976

Variant Present in the following documents:

• pone.0233900.s001.xlsx, sheet 1

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SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Genomics, Proteomics & Bioinformatics

Ren, Yongzhe Y; Zhang, Yang Y; Wang, Dandan D; Liu, Fengying F; Fu, Ying Y; Xiang, Shaohua S; Su, Li L; Li, Jiancheng J; Dai, Heng H; Huang, Bingding B

Publication Date: 2020-02

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 32428603

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc8.xlsx, sheet 4
• mmc8.xlsx, sheet 1
• mmc6.xlsx, sheet 1
• mmc8.xlsx, sheet 3
• mmc8.xlsx, sheet 2

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PIK3CA: G914R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.

Cancer Research And Treatment

Choi, Jung Yoon JY; Choi, Sunho S; Lee, Minhyeok M; Park, Young Soo YS; Sung, Jae Sook JS; Chang, Won Jin WJ; Kim, Ju Won JW; Choi, Yoon Ji YJ; Kim, Jin J; Kim, Dong-Sik DS; Lee, Sung-Ho SH; Seok, Junhee J; Park, Kyong Hwa KH; Kim, Seon Hahn SH; Kim, Yeul Hong YH

Publication Date: 2020-07

Variant appearance in text: PIK3CA: G914R

PubMed Link: 32065847

Variant Present in the following documents:

• crt-2020-044.pdf

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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: PIK3CA: G914R

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

American Journal Of Medical Genetics. Part A

Davis, Shanlee S; Ware, Meredith A MA; Zeiger, Jordan J; Deardorff, Matthew A MA; Grand, Katheryn K; Grimberg, Adda A; Hsu, Stephanie S; Kelsey, Megan M; Majidi, Shideh S; Matthew, Revi P RP; Napier, Melanie M; Nokoff, Natalie N; Prasad, Chitra C; Riggs, Andrew C AC; McKinnon, Margaret L ML; Mirzaa, Ghayda G

Publication Date: 2020-01

Variant appearance in text: N/A

PubMed Link: 31729162

Variant Present in the following documents:

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PIK3CA and MAP3K1 alterations imply luminal A status and are associated with clinical benefit from pan-PI3K inhibitor buparlisib and letrozole in ER+ metastatic breast cancer.

Npj Breast Cancer

Nixon, Mellissa J MJ; Formisano, Luigi L; Mayer, Ingrid A IA; Estrada, M Valeria MV; González-Ericsson, Paula I PI; Isakoff, Steven J SJ; Forero-Torres, Andrés A; Won, Helen H; Sanders, Melinda E ME; Solit, David B DB; Berger, Michael F MF; Cantley, Lewis C LC; Winer, Eric P EP; Arteaga, Carlos L CL; Balko, Justin M JM

Publication Date: 2019

Variant appearance in text: PIK3CA: G914R

PubMed Link: 31552290

Variant Present in the following documents:

• 41523_2019_126_MOESM1_ESM.xlsx, sheet 1

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DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Cancers

Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A

Publication Date: 2019-06-29

Variant appearance in text: PIK3CA: G914R

PubMed Link: 31261969

Variant Present in the following documents:

• cancers-11-00917-s001.xlsx, sheet 2

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Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications

Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J

Publication Date: 2019-06-17

Variant appearance in text: PIK3CA: G914R

PubMed Link: 31209238

Variant Present in the following documents:

• 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Molecular Genetics & Genomic Medicine

Lalonde, Emilie E; Ebrahimzadeh, Jessica J; Rafferty, Keith K; Richards-Yutz, Jennifer J; Grant, Richard R; Toorens, Erik E; Marie Rosado, Jennifer J; Schindewolf, Erica E; Ganguly, Tapan T; Kalish, Jennifer M JM; Deardorff, Matthew A MA; Ganguly, Arupa A

Publication Date: 2019-03

Variant appearance in text: PIK3CA: 2740G>A; Gly914Arg

PubMed Link: 30761771

Variant Present in the following documents:

• MGG3-7-na-s003.xlsx, sheet 1

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MAP kinase and autophagy pathways cooperate to maintain RAS mutant cancer cell survival.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lee, Chih-Shia CS; Lee, Liam C LC; Yuan, Tina L TL; Chakka, Sirisha S; Fellmann, Christof C; Lowe, Scott W SW; Caplen, Natasha J NJ; McCormick, Frank F; Luo, Ji J

Publication Date: 2019-03-05

Variant appearance in text: PIK3CA: G914R

PubMed Link: 30709910

Variant Present in the following documents:

• Main text

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: PIK3CA: 2740G>A; G914R

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.

Trends In Molecular Medicine

Madsen, Ralitsa R RR; Vanhaesebroeck, Bart B; Semple, Robert K RK

Publication Date: 2018-10

Variant appearance in text: PIK3CA: G914R

PubMed Link: 30197175

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Nature Communications

Chen, Li L; Yang, Liu L; Yao, Ling L; Kuang, Xia-Ying XY; Zuo, Wen-Jia WJ; Li, Shan S; Qiao, Feng F; Liu, Yi-Rong YR; Cao, Zhi-Gang ZG; Zhou, Shu-Ling SL; Zhou, Xiao-Yan XY; Yang, Wen-Tao WT; Shi, Jin-Xiu JX; Huang, Wei W; Hu, Xin X; Shao, Zhi-Ming ZM

Publication Date: 2018-04-10

Variant appearance in text: PIK3CA: G914R

PubMed Link: 29636477

Variant Present in the following documents:

• 41467_2018_Article_3867.pdf
• 41467_2018_3867_MOESM1_ESM.pdf

View BVdb publication page

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