Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 1139_1143delATGAG; Asp380Alafs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Mismatch Repair Universal Screening of Endometrial Cancers (MUSE) in a Canadian Cohort.

Current Oncology (Toronto, Ont.)

Lawrence, Jessica J; Richer, Lara L; Arseneau, Jocelyne J; Zeng, Xing X; Chong, George G; Weber, Evan E; Foulkes, William W; Palma, Laura L

Publication Date: 2021-01-15

Variant appearance in text: MSH6: 1139_1143delATGAG

PubMed Link: 33467402

Variant Present in the following documents:

• Main text
• curroncol-28-00052.pdf

View BVdb publication page

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Oncotarget

Jóri, Balazs B; Kamps, Rick R; Xanthoulea, Sofia S; Delvoux, Bert B; Blok, Marinus J MJ; Van de Vijver, Koen K KK; de Koning, Bart B; Oei, Felicia Trups FT; Tops, Carli M CM; Speel, Ernst Jm EJ; Kruitwagen, Roy F RF; Gomez-Garcia, Encarna B EB; Romano, Andrea A

Publication Date: 2015-12-01

Variant appearance in text: MSH6: 1139_1143delATGAG; Asp380Alafs*6

PubMed Link: 26517685

Variant Present in the following documents:

• Main text
• oncotarget-06-41108.pdf

View BVdb publication page