Publications:

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121909219

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121909219

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: rs121909219

PubMed Link: 34268892

Variant Present in the following documents:

• MGG3-9-e1739-s003.xlsx, sheet 1

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: rs121909219

PubMed Link: 34268892

Variant Present in the following documents:

• MGG3-9-e1739-s003.xlsx, sheet 1

View BVdb publication page

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The pivotal role of sampling recurrent tumors in the precision care of patients with tumors of the central nervous system.

Cold Spring Harbor Molecular Case Studies

Wong, Derek D; Shen, Yaoqing Y; Levine, Adrian B AB; Pleasance, Erin E; Jones, Martin M; Mungall, Karen K; Thiessen, Brian B; Toyota, Brian B; Laskin, Janessa J; Jones, Steven J M SJM; Marra, Marco A MA; Yip, Stephen S

Publication Date: 2019-08

Variant appearance in text: rs121909219

PubMed Link: 31371350

Variant Present in the following documents:

• MCS004143Won.pdf

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: PTEN: R233R

PubMed Link: 29698444

Variant Present in the following documents:

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

View BVdb publication page

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Integrated digital error suppression for improved detection of circulating tumor DNA.

Nature Biotechnology

Newman, Aaron M AM; Lovejoy, Alexander F AF; Klass, Daniel M DM; Kurtz, David M DM; Chabon, Jacob J JJ; Scherer, Florian F; Stehr, Henning H; Liu, Chih Long CL; Bratman, Scott V SV; Say, Carmen C; Zhou, Li L; Carter, Justin N JN; West, Robert B RB; Sledge, George W GW; Shrager, Joseph B JB; Loo, Billy W BW; Neal, Joel W JW; Wakelee, Heather A HA; Diehn, Maximilian M; Alizadeh, Ash A AA

Publication Date: 2016-05

Variant appearance in text: PTEN: 697C>A; R233R

PubMed Link: 27018799

Variant Present in the following documents:

• NIHMS764326-supplement-6.xlsx, sheet 1

View BVdb publication page

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MGMT promoter hypermethylation and K-RAS, PTEN and TP53 mutations in tamoxifen-exposed and non-exposed endometrial cancer cases.

British Journal Of Cancer

Nagy, E E; Gajjar, K B KB; Patel, I I II; Taylor, S S; Martin-Hirsch, P L PL; Stringfellow, H F HF; Martin, F L FL; Phillips, D H DH

Publication Date: 2014-06-10

Variant appearance in text: rs121909219

PubMed Link: 24853176

Variant Present in the following documents:

• Main text
• bjc2014263a.pdf

View BVdb publication page

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Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine.

Embo Molecular Medicine

Dias-Santagata, Dora D; Akhavanfard, Sara S; David, Serena S SS; Vernovsky, Kathy K; Kuhlmann, Georgiana G; Boisvert, Susan L SL; Stubbs, Hannah H; McDermott, Ultan U; Settleman, Jeffrey J; Kwak, Eunice L EL; Clark, Jeffrey W JW; Isakoff, Steven J SJ; Sequist, Lecia V LV; Engelman, Jeffrey A JA; Lynch, Thomas J TJ; Haber, Daniel A DA; Louis, David N DN; Ellisen, Leif W LW; Borger, Darrell R DR; Iafrate, A John AJ

Publication Date: 2010-05

Variant appearance in text: PTEN: R233R

PubMed Link: 20432502

Variant Present in the following documents:

• emmm0002-0146-SD1.xls, sheet 2

View BVdb publication page

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