SDHx-related pheochromocytoma/paraganglioma – genetic, clinical, and treatment outcomes in a series of 30 patients from a single center von Donato, Sara, Simões, Helder, Pinto, Ana Teresa, M. Cavaco, Branca, Leite, Valeriano

Volltext

CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas von Pita, Jaime M, Raspé, Eric, Coulonval, Katia, Decaussin-Petrucci, Myriam, Tarabichi, Maxime, Dom, Geneviève, Libert, Frederick, Craciun, Ligia, Andry, Guy, Wicquart, Laurence, Leteurtre, Emmanuelle, Trésallet, Christophe, Marlow, Laura A, Copland, John A, Durante, Cosimo, Maenhaut, Carine, Cavaco, Branca M, Dumont, Jacques E, Costante, Giuseppe, Roger, Pierre P

Volltext

Genomic profiling reveals mutational landscape in parathyroid carcinomas von Pandya, Chetanya, Uzilov, Andrew V, Bellizzi, Justin, Lau, Chun Yee, Moe, Aye S, Strahl, Maya, Hamou, Wissam, Newman, Leah C, Fink, Marc Y, Antipin, Yevgeniy, Yu, Willie, Stevenson, Mark, Cavaco, Branca M, Teh, Bin T, Thakker, Rajesh V, Morreau, Hans, Schadt, Eric E, Sebra, Robert, Li, Shuyu D, Arnold, Andrew, Chen, Rong

Volltext

RAS proto-oncogene in medullary thyroid carcinoma von Moura, Margarida M, Cavaco, Branca M, Leite, Valeriano

Volltext

Screening for a BRCA2 Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes von MACHADO, Patricia M, BRANDAO, Rita D, CAVACO, Branca M, EUGENIO, Joana, BENTO, Sandra, NAVE, Monica, RODRIGUES, Paula, FERNANDES, Aires, VAZ, Fatima

Volltext

High Prevalence of RAS Mutations in RET-Negative Sporadic Medullary Thyroid Carcinomas von Moura, Margarida M, Cavaco, Branca M, Pinto, António E, Leite, Valeriano

Volltext

Target therapy for BRAF mutated anaplastic thyroid cancer: a clinical and molecular study von da Silva, Tiago Nunes, Rodrigues, Ricardo, Saramago, Ana, Pires, Carolina, Rito, Miguel, Horta, Mariana, Martins, Carmo, Leite, Valeriano, Cavaco, Branca M

Volltext

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function von Pires, Carolina, Marques, Inês J., Valério, Mariana, Saramago, Ana, Santo, Paulo E., Santos, Sandra, Silva, Margarida, Moura, Margarida M., Matos, João, Pereira, Teresa, Cabrera, Rafael, Lousa, Diana, Leite, Valeriano, Bandeiras, Tiago M., Vicente, João B., Cavaco, Branca M.

Volltext

Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways von Pires, Carolina, Marques, Inês J., Saramago, Ana, Moura, Margarida M., Pojo, Marta, Cabrera, Rafael, Santos, Catarina, Rosário, Francisco, Lousa, Diana, Vicente, João B., Bandeiras, Tiago M., Teixeira, Manuel R., Leite, Valeriano, Cavaco, Branca M.

Volltext

Familial non-medullary thyroid carcinoma (FNMTC): analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations von Cavaco, Branca M, Batista, Pedro F, Martins, Carmo, Banito, Ana, do Rosário, Francisco, Limbert, Edward, Sobrinho, Luís G, Leite, Valeriano

Volltext

A case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation? von Chaves, Carolina, Nunes da Silva, Tiago, Dias Pereira, Bernardo, Anselmo, João, Claro, Isabel, Cavaco, Branca M., Saramago, Ana, Leite, Valeriano

Volltext

Parathyroid carcinoma: Single centre experience von Cunha, Clara, Pinheiro, Sara Lomelino, Donato, Sara, Tavares Bello, Carlos, Simões, Helder, Nunes Silva, Tiago, Prazeres, Susana, Doutel, Delfim, Cavaco, Branca M., Leite, Valeriano

Volltext

Identification of SPRY4 as a Novel Candidate Susceptibility Gene for Familial Nonmedullary Thyroid Cancer von Marques, Inês J, Gomes, Inês, Pojo, Marta, Pires, Carolina, Moura, Margarida M, Cabrera, Rafael, Santos, Catarina, van IJcken, Wilfred F J, Teixeira, Manuel R, Ramalho, José S, Leite, Valeriano, Cavaco, Branca M

Volltext

Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer von Pires, Carolina, Saramago, Ana, Moura, Margarida M, Li, Jing, Donato, Sara, Marques, Inês J, Belo, Hélio, Machado, Ana C, Cabrera, Rafael, Grünewald, Thomas G P, Leite, Valeriano, Cavaco, Branca M

Volltext

Clinical and molecular characterisation of metastatic papillary thyroid cancer according to radioiodine therapy outcomes von Simões-Pereira, Joana, Saramago, Ana, Rodrigues, Ricardo, Pojo, Marta, Pires, Carolina, Horta, Mariana, López-Presa, Dolores, Rito, Miguel, Cabrera, Rafael, Ferreira, Teresa C., Leite, Valeriano, Cavaco, Branca M.

Volltext

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism von Cavaco, Branca M, Canaff, Lucie, Nolin-Lapalme, Alexis, Vieira, Margarida, Silva, Tiago N, Saramago, Ana, Domingues, Rita, Rutter, Meilan M, Hudon, Jonathan, Gleason, James L, Leite, Valeriano, Hendy, Geoffrey N

Volltext

FOXE1 polymorphisms are associated with familial and sporadic nonmedullary thyroid cancer susceptibility von Tomaz, Rute A., Sousa, Inês, Silva, Joana G., Santos, Catarina, Teixeira, Manuel R., Leite, Valeriano, Cavaco, Branca M.

Volltext

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour von Pinto, António E, Silva, Giovani L, Henrique, Rui, Menezes, Francisco D, Teixeira, Manuel R, Leite, Valeriano, Cavaco, Branca M

Volltext

Identification of a novel CTR9 germline mutation in a family with Wilms tumor von Martins, António G., Pinto, Ana T., Domingues, Rita, Cavaco, Branca M.

Volltext

Identification of somatic TERT promoter mutations in familial nonmedullary thyroid carcinomas von Marques, Inês J., Moura, Margarida M., Cabrera, Rafael, Pinto, António E., Simões‐Pereira, Joana, Santos, Catarina, Menezes, Francisco D., Montezuma, Diana, Henrique, Rui, Rodrigues Teixeira, Manuel, Leite, Valeriano, Cavaco, Branca M.

Volltext