Publications:

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-01-03

Variant appearance in text: RET: Asn777Ser; rs377767415

PubMed Link: 34981673

Variant Present in the following documents:

• Main text
• MGG3-10-e1864.pdf

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-02

Variant appearance in text: RET: Asn777Ser; rs377767415

PubMed Link: 34981673

Variant Present in the following documents:

• Main text
• MGG3-10-e1864.pdf

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: RET: 2330A>G; Asn777Ser; rs377767415

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s006.xlsx, sheet 1
• ct9-12-e00431-s005.xlsx, sheet 1

View BVdb publication page

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: RET: 2330A>G; Asn777Ser; rs377767415

PubMed Link: 31937788

Variant Present in the following documents:

• Main text
• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_Article_57080.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: N777S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Genome Medicine

Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR

Publication Date: 2018-12-24

Variant appearance in text: RET: 2330A>G; Asn777Ser; rs377767415

PubMed Link: 30583724

Variant Present in the following documents:

• 13073_2018_607_MOESM3_ESM.xlsx, sheet 3
• 13073_2018_607_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Biomarker Insights

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018

Variant appearance in text: RET: Asn777Ser

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C

Publication Date: 2018-11-01

Variant appearance in text: RET: 2330A>G

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: N777S

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

View BVdb publication page

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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer

Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP

Publication Date: 2015-02

Variant appearance in text: RET: N777S

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RET: N777S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One

Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA

Publication Date: 2011-03-30

Variant appearance in text: RET: N777S

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

View BVdb publication page

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