Publications:

Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.

Cancers

Barbosa, Ana A; Pinto, Pedro P; Peixoto, Ana A; Guerra, Joana J; Pinto, Carla C; Santos, Catarina C; Pinheiro, Manuela M; Escudeiro, Carla C; Bartosch, Carla C; Silva, João J; Teixeira, Manuel R MR

Publication Date: 2020-09-30

Variant appearance in text: MSH6: 3182T>C; Leu1061Pro

PubMed Link: 33008098

Variant Present in the following documents:

• Main text
• cancers-12-02834.pdf

View BVdb publication page

Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

Jama Dermatology

Everett, Jessica N JN; Raymond, Victoria M VM; Dandapani, Monica M; Marvin, Monica M; Kohlmann, Wendy W; Chittenden, Anu A; Koeppe, Erika E; Gustafson, Shanna L SL; Else, Tobias T; Fullen, Douglas R DR; Johnson, Timothy M TM; Syngal, Sapna S; Gruber, Stephen B SB; Stoffel, Elena M EM

Publication Date: 2014-12

Variant appearance in text: MSH6: 3182T>C; L1061P

PubMed Link: 25006859

Variant Present in the following documents:

• Main text

View BVdb publication page