Publications:

---

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics

Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U

Publication Date: 2023-04-03

Variant appearance in text: PIK3CA: 3103G>A; Ala1035Thr

PubMed Link: 37010288

Variant Present in the following documents:

• supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5

View BVdb publication page

---

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: 3103G>A; Ala1035Thr

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

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: 3103G>A; A1035T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 3103G>A; Ala1035Thr

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

---

Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: PIK3CA: 3103G>A; Ala1035Thr

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

---

Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: PIK3CA: 3103G>A; A1035T

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 6

View BVdb publication page

---

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: A1035T

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

---

Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.

Cancer Biology & Medicine

Zhou, Zhen Z; Liu, Zichuan Z; Ou, Qiuxiang Q; Wu, Xue X; Wang, Xiaonan X; Shao, Yang Y; Liu, Hongyan H; Yang, Yu Y

Publication Date: 2021-03-12

Variant appearance in text: PIK3CA: 3103G>A

PubMed Link: 33710807

Variant Present in the following documents:

• Main text
• cbm-18-490.pdf

View BVdb publication page

---

Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2
• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

---

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: A1035T

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

---

SWOG S1400B (NCT02785913), a Phase II Study of GDC-0032 (Taselisib) for Previously Treated PI3K-Positive Patients with Stage IV Squamous Cell Lung Cancer (Lung-MAP Sub-Study).

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Langer, Corey J CJ; Redman, Mary W MW; Wade, James L JL; Aggarwal, Charu C; Bradley, Jeffrey D JD; Crawford, Jeffrey J; Stella, Philip J PJ; Knapp, Mark H MH; Miao, Jieling J; Minichiello, Katherine K; Herbst, Roy S RS; Kelly, Karen K; Gandara, David R DR; Papadimitrakopoulou, Vassiliki A VA

Publication Date: 2019-10

Variant appearance in text: PI3K: A1035T

PubMed Link: 31158500

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3

View BVdb publication page

---

Comprehensive genomic sequencing detects important genetic differences between right-sided and left-sided colorectal cancer.

Oncotarget

Shimada, Yoshifumi Y; Kameyama, Hitoshi H; Nagahashi, Masayuki M; Ichikawa, Hiroshi H; Muneoka, Yusuke Y; Yagi, Ryoma R; Tajima, Yosuke Y; Okamura, Takuma T; Nakano, Masato M; Sakata, Jun J; Kobayashi, Takashi T; Nogami, Hitoshi H; Maruyama, Satoshi S; Takii, Yasumasa Y; Hayashida, Tetsu T; Takaishi, Hiromasa H; Kitagawa, Yuko Y; Oki, Eiji E; Konishi, Tsuyoshi T; Ishida, Fumio F; Kudo, Shin-Ei SE; Ring, Jennifer E JE; Protopopov, Alexei A; Lyle, Stephen S; Ling, Yiwei Y; Okuda, Shujiro S; Ishikawa, Takashi T; Akazawa, Kohei K; Takabe, Kazuaki K; Wakai, Toshifumi T

Publication Date: 2017-11-07

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 29212173

Variant Present in the following documents:

• oncotarget-08-93567-s003.xlsx, sheet 1

View BVdb publication page

---

PIK3CA exon9 mutations associate with reduced survival, and are highly concordant between matching primary tumors and metastases in endometrial cancer.

Scientific Reports

Mjos, Siv S; Werner, Henrica M J HMJ; Birkeland, Even E; Holst, Frederik F; Berg, Anna A; Halle, Mari K MK; Tangen, Ingvild L IL; Kusonmano, Kanthida K; Mauland, Karen K KK; Oyan, Anne M AM; Kalland, Karl-Henning KH; Lewis, Aurélia E AE; Mills, Gordon B GB; Krakstad, Camilla C; Trovik, Jone J; Salvesen, Helga B HB; Hoivik, Erling A EA

Publication Date: 2017-08-31

Variant appearance in text: PIK3CA: 3103G>A

PubMed Link: 28860563

Variant Present in the following documents:

• 41598_2017_10717_MOESM1_ESM.pdf

View BVdb publication page

---

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: 3103G>A

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

---

Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: PIK3CA: 3103G>A; A1035T

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

---

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Jci Insight

Mirzaa, Ghayda G; Timms, Andrew E AE; Conti, Valerio V; Boyle, Evan August EA; Girisha, Katta M KM; Martin, Beth B; Kircher, Martin M; Olds, Carissa C; Juusola, Jane J; Collins, Sarah S; Park, Kaylee K; Carter, Melissa M; Glass, Ian I; Krägeloh-Mann, Inge I; Chitayat, David D; Parikh, Aditi Shah AS; Bradshaw, Rachael R; Torti, Erin E; Braddock, Stephen S; Burke, Leah L; Ghedia, Sondhya S; Stephan, Mark M; Stewart, Fiona F; Prasad, Chitra C; Napier, Melanie M; Saitta, Sulagna S; Straussberg, Rachel R; Gabbett, Michael M; O'Connor, Bridget C BC; Keegan, Catherine E CE; Yin, Lim Jiin LJ; Lai, Angeline Hwei Meeng AHM; Martin, Nicole N; McKinnon, Margaret M; Addor, Marie-Claude MC; Boccuto, Luigi L; Schwartz, Charles E CE; Lanoel, Agustina A; Conway, Robert L RL; Devriendt, Koenraad K; Tatton-Brown, Katrina K; Pierpont, Mary Ella ME; Painter, Michael M; Worgan, Lisa L; Reggin, James J; Hennekam, Raoul R; Tsuchiya, Karen K; Pritchard, Colin C CC; Aracena, Mariana M; Gripp, Karen W KW; Cordisco, Maria M; Van Esch, Hilde H; Garavelli, Livia L; Curry, Cynthia C; Goriely, Anne A; Kayserilli, Hulya H; Shendure, Jay J; Graham, John J; Guerrini, Renzo R; Dobyns, William B WB

Publication Date: 2016-06-16

Variant appearance in text: PIK3CA: 3103G>A

PubMed Link: 27631024

Variant Present in the following documents:

• Main text
• jciinsight-1-87623-s001.pdf
• jciinsight-1-87623.pdf

View BVdb publication page

---

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Baker, Laura L; Kandula, Vinay V; Conard, Katrina K; Scavina, Mena M; Napoli, Joseph A JA; Griffin, Gregory C GC; Thacker, Mihir M; Knox, Rachel G RG; Clark, Graeme R GR; Parker, Victoria E R VE; Semple, Robert R; Mirzaa, Ghayda G; Keppler-Noreuil, Kim M KM

Publication Date: 2016-10

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 27191687

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Frequency and clinicopathologic profile of PIK3CA mutant GISTs: molecular genetic study of 529 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Lasota, Jerzy J; Felisiak-Golabek, Anna A; Wasag, Bartosz B; Kowalik, Artur A; Zięba, Sebastian S; Chłopek, Małgorzata M; Wang, Zeng-Feng ZF; Coates, Tiffany T; Kopczynski, Janusz J; Gozdz, Stanislaw S; Sarlomo-Rikala, Maarit M; Miettinen, Markku M

Publication Date: 2016-03

Variant appearance in text: PIK3CA: 3103G>A

PubMed Link: 26796526

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

---

PIK3CA, HRAS and PTEN in human papillomavirus positive oropharyngeal squamous cell carcinoma.

Bmc Cancer

Chiosea, Simion I SI; Grandis, Jennifer R JR; Lui, Vivian W Y VW; Diergaarde, Brenda B; Maxwell, Jessica H JH; Ferris, Robert L RL; Kim, Seungwon W SW; Luvison, Alyssa A; Miller, Megan M; Nikiforova, Marina N MN

Publication Date: 2013-12-17

Variant appearance in text: PIK3CA: 3103G>A

PubMed Link: 24341335

Variant Present in the following documents:

• Main text
• 1471-2407-13-602.pdf

View BVdb publication page

---

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: PIK3CA: A1035T

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

View BVdb publication page

---

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: A1035T

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

---