Publications:

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Frontiers In Genetics

Anaclerio, Federico F; Pilenzi, Lucrezia L; Dell'Elice, Anastasia A; Ferrante, Rossella R; Grossi, Simona S; Ferlito, Luca Maria LM; Marinelli, Camilla C; Gildetti, Simona S; Calabrese, Giuseppe G; Stuppia, Liborio L; Antonucci, Ivana I

Publication Date: 2023

Variant appearance in text: PTEN: 349A>G

PubMed Link: 37065479

Variant Present in the following documents:

• Main text

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Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.

Scientific Reports

Kotnik, Urška U; Maver, Aleš A; Peterlin, Borut B; Lovrecic, Luca L

Publication Date: 2023-03-31

Variant appearance in text: PTEN: 349A>G

PubMed Link: 37002323

Variant Present in the following documents:

• 41598_2023_Article_32397.pdf

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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: PTEN: 349A>G; Asn117Asp

PubMed Link: 34797250

Variant Present in the following documents:

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

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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: PTEN: N117D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: N117D

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

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