Publications:

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Germline and Somatic mutations in postmenopausal breast cancer patients.

Clinics (Sao Paulo, Brazil)

Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2021

Variant appearance in text: PIK3CA: 3170G>A

PubMed Link: 34287479

Variant Present in the following documents:

• Main text
• cln-76-2837.pdf

View BVdb publication page

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Multi-Site Tumour Sampling Improves the Detection of Intra-Tumour Heterogeneity in Oral and Oropharyngeal Squamous Cell Carcinoma.

Frontiers In Medicine

Jie, Weiping W; Bai, Jiaying J; Yan, Jing J; Chi, Yanting Y; Li, Bin-Bin BB

Publication Date: 2021

Variant appearance in text: PI3K: W1057*

PubMed Link: 34041255

Variant Present in the following documents:

• fmed-08-670305.pdf

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Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology

Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM

Publication Date: 2020-04

Variant appearance in text: PIK3CA: 3170G>A; W1057X

PubMed Link: 32058674

Variant Present in the following documents:

• Main text
• MOL2-14-671.pdf
• MOL2-14-671-s006.xlsx, sheet 1

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Clonal analyses of refractory testicular germ cell tumors.

Plos One

Barrett, Michael T MT; Lenkiewicz, Elzbieta E; Malasi, Smriti S; Stanton, Melissa M; Slack, James J; Andrews, Paul P; Pagliaro, Lance L; Bryce, Alan H AH

Publication Date: 2019

Variant appearance in text: PIK3CA: W1057*

PubMed Link: 30870501

Variant Present in the following documents:

• Main text

View BVdb publication page

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The distinct clinicopathological and prognostic implications of PIK3CA mutations in breast cancer patients from Central China.

Cancer Management And Research

Wu, Haibo H; Wang, Wei W; Du, Jun J; Li, Hong H; Wang, Huogang H; Huang, Liangliang L; Xiang, Hang H; Xie, Jing J; Liu, Xiaoli X; Li, Heng H; Lin, Wenchu W

Publication Date: 2019

Variant appearance in text: PIK3CA: Trp1057*

PubMed Link: 30863158

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: W1057*

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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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: rs267599698

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: PIK3CA: W1057X

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 19

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PIK3CA: 3170G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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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: N/A

PubMed Link: 26010451

Variant Present in the following documents:

View BVdb publication page

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: PIK3CA: 3170G>A; Trp1057Ter

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: PIK3CA: 3170G>A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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