Publications:

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Bmc Medical Genomics

Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C

Publication Date: 2023-03-05

Variant appearance in text: MLH1: 467delT

PubMed Link: 36872334

Variant Present in the following documents:

• 12920_2023_1469_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.

Molecular Genetics & Genomic Medicine

Li, Yirong Y; Salo-Mullen, Erin E; Varghese, Anna A; Trottier, Magan M; Stadler, Zsofia K ZK; Zhang, Liying L

Publication Date: 2020-12

Variant appearance in text: MLH1: 469delT; Tyr157Thrfs*3

PubMed Link: 33058565

Variant Present in the following documents:

• Main text
• MGG3-8-e1523.pdf

View BVdb publication page

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J

Publication Date: 2020-05

Variant appearance in text: MLH1: 469delT; Y157Tfs*3

PubMed Link: 31857677

Variant Present in the following documents:

• Main text
• nihms-1541744.pdf

View BVdb publication page