Publications:

---

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: PIK3CA: N515S

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer

Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY

Publication Date: 2021-09-09

Variant appearance in text: PIK3CA: 1544A>G; N515S

PubMed Link: 34504096

Variant Present in the following documents:

• 41523_2021_319_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports

Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P

Publication Date: 2019-11-19

Variant appearance in text: PIK3CA: 1544A>G; N515S

PubMed Link: 31745173

Variant Present in the following documents:

• 41598_2019_53636_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: 1544A>G; N515S

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: PIK3CA: N515S

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM1_ESM.pdf
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10

View BVdb publication page

---

ZNF131 suppresses centrosome fragmentation in glioblastoma stem-like cells through regulation of HAUS5.

Oncotarget

Ding, Yu Y; Herman, Jacob A JA; Toledo, Chad M CM; Lang, Jackie M JM; Corrin, Philip P; Girard, Emily J EJ; Basom, Ryan R; Delrow, Jeffrey J JJ; Olson, James M JM; Paddison, Patrick J PJ

Publication Date: 2017-07-25

Variant appearance in text: PIK3CA: N515S

PubMed Link: 28596487

Variant Present in the following documents:

• oncotarget-08-48545-s002.xlsx, sheet 1

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: 1544A>G; rs201371389

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

---

Epstein-Barr virus-associated gastric cancer reveals intratumoral heterogeneity of PIK3CA mutations.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Böger, C C; Krüger, S S; Behrens, H M HM; Bock, S S; Haag, J J; Kalthoff, H H; Röcken, C C

Publication Date: 2017-05-01

Variant appearance in text: PIK3CA: N515S

PubMed Link: 28453696

Variant Present in the following documents:

• mdx047.pdf

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: Asn515Ser

PubMed Link: 27631024

Variant Present in the following documents:

• jciinsight-1-87623-s001.pdf

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PIK3CA: N515S

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: PIK3CA: 1544A>G; N515S

PubMed Link: 22558107

Variant Present in the following documents:

• Main text
• pone.0035003.pdf
• pone.0035003.s004.pdf

View BVdb publication page

---