Publications:

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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: R770Q

PubMed Link: 36561320

Variant Present in the following documents:

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

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: PIK3CA: R770Q; rs749840319

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: R770Q

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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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: 2309G>A; Arg770Gln

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Sensitivities and Dependencies of BRAF Mutant Colorectal Cancer Cell Lines with or without PIK3CA Mutations for Discovery of Vulnerabilities with Therapeutic Potential.

Medicina (Kaunas, Lithuania)

Voutsadakis, Ioannis A IA

Publication Date: 2022-10-21

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 36295658

Variant Present in the following documents:

• medicina-58-01498.pdf

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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: 2309G>A; R770Q

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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: rs749840319

PubMed Link: 35665681

Variant Present in the following documents:

• mmc24.xlsx, sheet 1

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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: PIK3CA: Arg770Gln

PubMed Link: 33077954

Variant Present in the following documents:

• Main text

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Inactivation of NF1 Promotes Resistance to EGFR Inhibition in KRAS/NRAS/BRAF -Wild-Type Colorectal Cancer.

Molecular Cancer Research : Mcr

Georgiou, Alexandros A; Stewart, Adam A; Cunningham, David D; Banerji, Udai U; Whittaker, Steven R SR

Publication Date: 2020-06

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 32098826

Variant Present in the following documents:

• Main text

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Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances

Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS

Publication Date: 2020-01

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 31998840

Variant Present in the following documents:

• aay2174_SM.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 33

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Macrophage migration inhibitory factor promotes resistance to MEK blockade in KRAS mutant colorectal cancer cells.

Molecular Oncology

Cheon, Seul-Ki SK; Kim, Hwang-Phill HP; Park, Ye-Lim YL; Jang, Jee-Eun JE; Lim, Yoojoo Y; Song, Sang-Hyun SH; Han, Sae-Won SW; Kim, Tae-You TY

Publication Date: 2018-08

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 29896883

Variant Present in the following documents:

• MOL2-12-1398-s001.pdf

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: PI3K: 2309G>A

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PIK3CA: 2309G>A; R770Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes.

Gut

Mennonna, Daniele D; Maccalli, Cristina C; Romano, Michele C MC; Garavaglia, Claudio C; Capocefalo, Filippo F; Bordoni, Roberta R; Severgnini, Marco M; De Bellis, Gianluca G; Sidney, John J; Sette, Alessandro A; Gori, Alessandro A; Longhi, Renato R; Braga, Marco M; Ghirardelli, Luca L; Baldari, Ludovica L; Orsenigo, Elena E; Albarello, Luca L; Zino, Elisabetta E; Fleischhauer, Katharina K; Mazzola, Gina G; Ferrero, Norma N; Amoroso, Antonio A; Casorati, Giulia G; Parmiani, Giorgio G; Dellabona, Paolo P

Publication Date: 2017-03

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 26681737

Variant Present in the following documents:

• Main text
• gutjnl-2015-309453.pdf
• gutjnl-2015-309453supp004.pdf

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Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Cancer Research

Hudson, Andrew M AM; Yates, Tim T; Li, Yaoyong Y; Trotter, Eleanor W EW; Fawdar, Shameem S; Chapman, Phil P; Lorigan, Paul P; Biankin, Andrew A; Miller, Crispin J CJ; Brognard, John J

Publication Date: 2014-11-15

Variant appearance in text: PIK3CA: R770Q

PubMed Link: 25256751

Variant Present in the following documents:

• Main text

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