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Variants identified in Ion AmpliSeq Comprehensive Cancer Panel Genes.

Selene M. Virk (376057)
Richard M. Gibson (612907)
Miguel E. Quinones-Mateu (5663323)
Jill S. Barnholtz-Sloan (233529)

Publication date

May 2015

DOI

10.1371/journal.pone.0124178.t002

Abstract

<p>Summary of all variants identified in this study, the majority of which were found in primary tumors. R, recurrent; Chr, chromosome; NS, nonsynonymous; P, primary; SNV, single nucleotide variant.</p><p>Variants identified in Ion AmpliSeq Comprehensive Cancer Panel Genes.</p

Extracted data

Related items

Comparison of genotypes for amino acid changing variants in paired panel and sample series.

Vassiliki Kotoula (161014)
Aggeliki Lyberopoulou (486475)
Kyriaki Papadopoulou (439181)
Elpida Charalambous (369512)
Zoi Alexopoulou (610020)
Chryssa Gakou (738480)
Sotiris Lakis (749032)
Eleftheria Tsolaki (439179)
Konstantinos Lilakos (749033)
George Fountzilas (8221)

June 2015

<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

July 2018

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result fr...

Pathogenic Germline Variants in 10,389 Adult Cancers

April 2018

We conducted the largest investigation of predisposition variants in cancer to date, discovering 853...

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

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Paula Rofes (5793830)
Eduardo Diaz-Rubio (5793833)
Patricia Llovet (457407)
Victor Lorca (5793836)
Inmaculada Bando (303136)
Pedro Perez-Segura (5793839)
Miguel de la Hoya (238670)
Pilar Garre (457403)
Vanesa Garcia-Barberan (3147174)
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September 2018

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing

Oliveira, Duarte Mendes
Laudanna, Carmelo
Migliozzi, Simona
Zoppoli, Pietro
Santamaria, Gianluca
Grillone, Katia
Elia, Laura
Mignogna, Chiara
Biamonte, Flavia
Sacco, Rosario
Corcione, Francesco
Viglietto, Giuseppe
Malanga, Donatella
Rizzuto, Antonia

January 2018

The objective of this study was to investigate the mutational profiles of cancers arising in differe...

Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing.

Selene M Virk
Richard M Gibson
Miguel E Quinones-Mateu
Jill S Barnholtz-Sloan

Glioblastoma (GBM) is an aggressive, malignant brain tumor typically resulting in death of the patie...

Comparison of Next-Generation Sequencing Panels and Platforms for Detection and Verification of Somatic Tumor Variants for Clinical Diagnostics

Misyura, Maksym
Zhang, Tong
Sukhai, Mahadeo A.
Thomas, Mariam
Garg, Swati
Kamel-Reid, Suzanne
Stockley, Tracy L.

November 2016

Use of next-generation sequencing to detect somatic variants in DNA extracted from formalin-fixed, p...

Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel

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Jahad Alghamdi
Alhanouf Alomani
Saleh AlGhamdi
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Ahood Sayed
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Faisal Almajed
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Mohammed A. Al Balwi
Mohammad Azhar Aziz

June 2021

Biomarker discovery would be an important tool in advancing and utilizing the concept of precision a...

Application of Multigene Panels Testing for Hereditary Cancer Syndromes

Airat Bilyalov
Sergey Nikolaev
Leila Shigapova
Igor Khatkov
Anastasia Danishevich
Ludmila Zhukova
Sergei Smolin
Marina Titova
Tatyana Lisica
Natalia Bodunova
Elena Shagimardanova
Oleg Gusev

October 2022

Background: Approximately 5–10% of all cancers are associated with hereditary cancer predisposition ...

Known and novel variant counts at a read-depth of ≥100 that overlapped genes and their flanking regions.

Kevin Blighe (473974)
Laura Kenny (697969)
Naina Patel (697970)
David S. Guttery (134240)
Karen Page (345438)
Julian H. Gronau (697971)
Cyrus Golshani (697972)
Justin Stebbing (181883)
R. Charles Coombes (410261)
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December 2014

<p>Variants were judged as known by their being listed in dbSNP. Variant counts for those unique to ...

Summary of mutated AmpliSeq CCP genes.

Selene M. Virk (376057)
Richard M. Gibson (612907)
Miguel E. Quinones-Mateu (5663323)
Jill S. Barnholtz-Sloan (233529)

May 2015

<p>Genes containing variants and the associated sequencing platforms are shown. Most variants were a...

NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in colorectal carcinoma.

Clare M. McCourt (438338)
Darragh G. McArt (231224)
Ken Mills (204775)
Mark A. Catherwood (438339)
Perry Maxwell (438340)
David J. Waugh (438341)
Peter Hamilton (438342)
Joe M. O'Sullivan (438343)
Manuel Salto-Tellez (142198)

July 2013

<p>NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in colorectal carcinoma.</p

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

Karageorgos, Ioannis
Mizzi, Clint
Giannopoulou, Efstathia
Pavlidis, Cristiana
Peters, Brock A.
Zagoriti, Zoi
Stenson, Peter D.
Mitropoulos, Konstantinos
Borg, Joseph J.
Kalofonos, Haralabos P.
Drmanac, Radoje
Stubbs, Andrew
Spek, Peter van der
Cooper, David N.
Katsila, Theodora
Patrinos, George P.

January 2015

Cancer, like many common disorders, has a complex etiology, often with a strong genetic component an...

Incidences of the *6A Variant on Exon 1 and The Single Nucleotide Polymorphism on Exon 7 of the Transforming Growth Factor-Beta Receptor Type 1 Gene in Colorectal Cancer Patients With More Than One Tumor

Calhoun, Nolan

March 2018

Colorectal cancer (CRC) is a disease that affects the large intestine (colon) and the rectum. In Ken...

NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in lung adenocarcinoma.

Clare M. McCourt (438338)
Darragh G. McArt (231224)
Ken Mills (204775)
Mark A. Catherwood (438339)
Perry Maxwell (438340)
David J. Waugh (438341)
Peter Hamilton (438342)
Joe M. O'Sullivan (438343)
Manuel Salto-Tellez (142198)

July 2013

<p>NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in lung adenocarcinoma.</p

Comparison of genotypes for amino acid changing variants in paired panel and sample series.

Vassiliki Kotoula (161014)
Aggeliki Lyberopoulou (486475)
Kyriaki Papadopoulou (439181)
Elpida Charalambous (369512)
Zoi Alexopoulou (610020)
Chryssa Gakou (738480)
Sotiris Lakis (749032)
Eleftheria Tsolaki (439179)
Konstantinos Lilakos (749033)
George Fountzilas (8221)

June 2015

<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

July 2018

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result fr...

Pathogenic Germline Variants in 10,389 Adult Cancers

April 2018

We conducted the largest investigation of predisposition variants in cancer to date, discovering 853...

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

Lorena Martin-Morales (5793827)
Paula Rofes (5793830)
Eduardo Diaz-Rubio (5793833)
Patricia Llovet (457407)
Victor Lorca (5793836)
Inmaculada Bando (303136)
Pedro Perez-Segura (5793839)
Miguel de la Hoya (238670)
Pilar Garre (457403)
Vanesa Garcia-Barberan (3147174)
Trinidad Caldes (3147195)

September 2018

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing

Oliveira, Duarte Mendes
Laudanna, Carmelo
Migliozzi, Simona
Zoppoli, Pietro
Santamaria, Gianluca
Grillone, Katia
Elia, Laura
Mignogna, Chiara
Biamonte, Flavia
Sacco, Rosario
Corcione, Francesco
Viglietto, Giuseppe
Malanga, Donatella
Rizzuto, Antonia

January 2018

The objective of this study was to investigate the mutational profiles of cancers arising in differe...

Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing.

Selene M Virk
Richard M Gibson
Miguel E Quinones-Mateu
Jill S Barnholtz-Sloan

Glioblastoma (GBM) is an aggressive, malignant brain tumor typically resulting in death of the patie...

Comparison of Next-Generation Sequencing Panels and Platforms for Detection and Verification of Somatic Tumor Variants for Clinical Diagnostics

Misyura, Maksym
Zhang, Tong
Sukhai, Mahadeo A.
Thomas, Mariam
Garg, Swati
Kamel-Reid, Suzanne
Stockley, Tracy L.

November 2016

Use of next-generation sequencing to detect somatic variants in DNA extracted from formalin-fixed, p...

Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel

Bader Almuzzaini
Jahad Alghamdi
Alhanouf Alomani
Saleh AlGhamdi
Abdullah A. Alsharm
Saeed Alshieban
Ahood Sayed
Abdulmohsen G. Alhejaily
Feda S. Aljaser
Manal Abudawood
Faisal Almajed
Abdulhadi Samman
Mohammed A. Al Balwi
Mohammad Azhar Aziz

June 2021

Biomarker discovery would be an important tool in advancing and utilizing the concept of precision a...

Application of Multigene Panels Testing for Hereditary Cancer Syndromes

Airat Bilyalov
Sergey Nikolaev
Leila Shigapova
Igor Khatkov
Anastasia Danishevich
Ludmila Zhukova
Sergei Smolin
Marina Titova
Tatyana Lisica
Natalia Bodunova
Elena Shagimardanova
Oleg Gusev

October 2022

Background: Approximately 5–10% of all cancers are associated with hereditary cancer predisposition ...

Known and novel variant counts at a read-depth of ≥100 that overlapped genes and their flanking regions.

Kevin Blighe (473974)
Laura Kenny (697969)
Naina Patel (697970)
David S. Guttery (134240)
Karen Page (345438)
Julian H. Gronau (697971)
Cyrus Golshani (697972)
Justin Stebbing (181883)
R. Charles Coombes (410261)
Jacqueline A. Shaw (473977)

December 2014

<p>Variants were judged as known by their being listed in dbSNP. Variant counts for those unique to ...

Summary of mutated AmpliSeq CCP genes.

Selene M. Virk (376057)
Richard M. Gibson (612907)
Miguel E. Quinones-Mateu (5663323)
Jill S. Barnholtz-Sloan (233529)

May 2015

<p>Genes containing variants and the associated sequencing platforms are shown. Most variants were a...

NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in colorectal carcinoma.

Clare M. McCourt (438338)
Darragh G. McArt (231224)
Ken Mills (204775)
Mark A. Catherwood (438339)
Perry Maxwell (438340)
David J. Waugh (438341)
Peter Hamilton (438342)
Joe M. O'Sullivan (438343)
Manuel Salto-Tellez (142198)

July 2013

<p>NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in colorectal carcinoma.</p

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

Karageorgos, Ioannis
Mizzi, Clint
Giannopoulou, Efstathia
Pavlidis, Cristiana
Peters, Brock A.
Zagoriti, Zoi
Stenson, Peter D.
Mitropoulos, Konstantinos
Borg, Joseph J.
Kalofonos, Haralabos P.
Drmanac, Radoje
Stubbs, Andrew
Spek, Peter van der
Cooper, David N.
Katsila, Theodora
Patrinos, George P.

January 2015

Cancer, like many common disorders, has a complex etiology, often with a strong genetic component an...

Incidences of the *6A Variant on Exon 1 and The Single Nucleotide Polymorphism on Exon 7 of the Transforming Growth Factor-Beta Receptor Type 1 Gene in Colorectal Cancer Patients With More Than One Tumor

Calhoun, Nolan

March 2018

Colorectal cancer (CRC) is a disease that affects the large intestine (colon) and the rectum. In Ken...

NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in lung adenocarcinoma.

Clare M. McCourt (438338)
Darragh G. McArt (231224)
Ken Mills (204775)
Mark A. Catherwood (438339)
Perry Maxwell (438340)
David J. Waugh (438341)
Peter Hamilton (438342)
Joe M. O'Sullivan (438343)
Manuel Salto-Tellez (142198)

July 2013

<p>NGS gene mutation detection using the Ion AmpliSeq Cancer Panel in lung adenocarcinoma.</p

Comparison of genotypes for amino acid changing variants in paired panel and sample series.

Vassiliki Kotoula (161014)
Aggeliki Lyberopoulou (486475)
Kyriaki Papadopoulou (439181)
Elpida Charalambous (369512)
Zoi Alexopoulou (610020)
Chryssa Gakou (738480)
Sotiris Lakis (749032)
Eleftheria Tsolaki (439179)
Konstantinos Lilakos (749033)
George Fountzilas (8221)

June 2015

<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

July 2018

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result fr...

Pathogenic Germline Variants in 10,389 Adult Cancers

April 2018

We conducted the largest investigation of predisposition variants in cancer to date, discovering 853...