Publications:

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: K821E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: K821E

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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: K821E

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1

View BVdb publication page

Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurzrock, Razelle R; Sherman, Steven I SI; Ball, Douglas W DW; Forastiere, Arlene A AA; Cohen, Roger B RB; Mehra, Ranee R; Pfister, David G DG; Cohen, Ezra E W EE; Janisch, Linda L; Nauling, Forlisa F; Hong, David S DS; Ng, Chaan S CS; Ye, Lei L; Gagel, Robert F RF; Frye, John J; Müller, Thomas T; Ratain, Mark J MJ; Salgia, Ravi R

Publication Date: 2011-07-01

Variant appearance in text: RET: K821E

PubMed Link: 21606412

Variant Present in the following documents:

• Main text

View BVdb publication page