Publications:

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Predictors of fulvestrant long-term benefit in hormone receptor-positive/HER2 negative advanced breast cancer.

Scientific Reports

Torrisi, Rosalba R; Vaira, Valentina V; Giordano, Laura L; Destro, Annarita A; Basilico, Vera V; Mazzara, Saveria S; Salvini, Piermario P; Gaudioso, Gabriella G; Fernandes, Bethania B; Rudini, Noemi N; Masci, Giovanna G; Santoro, Armando A

Publication Date: 2022-07-27

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 35896637

Variant Present in the following documents:

• Main text
• 41598_2022_Article_16409.pdf

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

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

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: PI3K: H1047P

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

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Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.

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

Zhou, Qing Q; Gampenrieder, Simon P SP; Frantal, Sophie S; Rinnerthaler, Gabriel G; Singer, Christian F CF; Egle, Daniel D; Pfeiler, Georg G; Bartsch, Rupert R; Wette, Viktor V; Pichler, Angelika A; Petru, Edgar E; Dubsky, Peter C PC; Bago-Horvath, Zsuzsanna Z; Fesl, Christian C; Rudas, Margaretha M; Ståhlberg, Anders A; Graf, Ricarda R; Weber, Sabrina S; Dandachi, Nadia N; Filipits, Martin M; Gnant, Michael M; Balic, Marija M; Heitzer, Ellen E

Publication Date: 2022-02-15

Variant appearance in text: PIK3CA: 3140A>C; His1047Pro

PubMed Link: 34862246

Variant Present in the following documents:

• ccr-21-3231_table_s2_supps2.xlsx, sheet 1

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Genomic Sub-Classification of Ovarian Clear Cell Carcinoma Revealed by Distinct Mutational Signatures.

Cancers

Oliveira, Douglas V N P DVNP; Schnack, Tine H TH; Poulsen, Tim S TS; Christiansen, Anne P AP; Høgdall, Claus K CK; Høgdall, Estrid V EV

Publication Date: 2021-10-19

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 34680390

Variant Present in the following documents:

• Main text

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Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.

Journal Of Personalized Medicine

Huang, Ching-Shui CS; Liu, Chih-Yi CY; Lu, Tzu-Pin TP; Huang, Chi-Jung CJ; Chiu, Jen-Hwey JH; Tseng, Ling-Ming LM; Huang, Chi-Cheng CC

Publication Date: 2021-06-28

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 34203389

Variant Present in the following documents:

• Main text
• jpm-11-00613.pdf

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

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The genetic evolution of metastatic uveal melanoma.

Nature Genetics

Shain, A Hunter AH; Bagger, Mette M MM; Yu, Richard R; Chang, Darwin D; Liu, Shanshan S; Vemula, Swapna S; Weier, Jingly F JF; Wadt, Karin K; Heegaard, Steffen S; Bastian, Boris C BC; Kiilgaard, Jens F JF

Publication Date: 2019-07

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 31253977

Variant Present in the following documents:

• NIHMS1529305-supplement-5.xlsx, sheet 1

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: PI3K: H1047P

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

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Pilot investigation of the mutation profile of PIK3CA/PTEN genes (PI3K pathway) in grade 3 endometrial cancer.

Oncology Reports

Malentacchi, Francesca F; Turrini, Irene I; Sorbi, Flavia F; Projetto, Elisabetta E; Castiglione, Francesca F; Fambrini, Massimiliano M; Petraglia, Felice F; Pillozzi, Serena S; Noci, Ivo I

Publication Date: 2019-03

Variant appearance in text: PIK3CA: 3140A>C

PubMed Link: 30569174

Variant Present in the following documents:

• Main text
• or-41-03-1560.pdf

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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: 3140A>C; H1047P

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: PIK3CA: H1047P

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

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