Publications:

The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)

Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR

Publication Date: 2022-05

Variant appearance in text: RET: 1642G>A; Gly548Ser; rs374461212

PubMed Link: 35029067

Variant Present in the following documents:

• CAC2-42-481-s003.xlsx, sheet 3

View BVdb publication page

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocrine Connections

Larsen, Louise Vølund LV; Mirebeau-Prunier, Delphine D; Imai, Tsuneo T; Alvarez-Escola, Cristina C; Hasse-Lazar, Kornelia K; Censi, Simona S; Castroneves, Luciana A LA; Sakurai, Akihiro A; Kihara, Minoru M; Horiuchi, Kiyomi K; Barbu, Véronique Dorine VD; Borson-Chazot, Francoise F; Gimenez-Roqueplo, Anne-Paule AP; Pigny, Pascal P; Pinson, Stephane S; Wohllk, Nelson N; Eng, Charis C; Aydogan, Berna Imge BI; Saranath, Dhananjaya D; Dvorakova, Sarka S; Castinetti, Frederic F; Patocs, Attila A; Bergant, Damijan D; Links, Thera P TP; Peczkowska, Mariola M; Hoff, Ana O AO; Mian, Caterina C; Dwight, Trisha T; Jarzab, Barbara B; Neumann, Hartmut P H HPH; Robledo, Mercedes M; Uchino, Shinya S; Barlier, Anne A; Godballe, Christian C; Mathiesen, Jes Sloth JS

Publication Date: 2020-06

Variant appearance in text: RET: G548S

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.pdf

View BVdb publication page

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.

Bmc Medical Genomics

Bim, Larissa V LV; Navarro, Fábio C P FCP; Valente, Flávia O F FOF; Lima-Junior, José V JV; Delcelo, Rosana R; Dias-da-Silva, Magnus R MR; Maciel, Rui M B RMB; Galante, Pedro A F PAF; Cerutti, Janete M JM

Publication Date: 2019-07-09

Variant appearance in text: RET: G548S

PubMed Link: 31288802

Variant Present in the following documents:

• Main text
• 12920_2019_Article_552.pdf

View BVdb publication page