Publications:

Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.

Cold Spring Harbor Molecular Case Studies

Bell, Hannah N HN; Kumar-Sinha, Chandan C; Mannan, Rahul R; Zakalik, Dana D; Zhang, Yuping Y; Mehra, Rohit R; Jagtap, Deepa D; Dhanasekaran, Saravana M SM; Vaishampayan, Ulka U

Publication Date: 2022-04

Variant appearance in text: NF1: F231L

PubMed Link: 35483881

Variant Present in the following documents:

• MCS006203Bel.pdf

View BVdb publication page

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications

Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW

Publication Date: 2021-01-08

Variant appearance in text: NF1: F231L

PubMed Link: 33420073

Variant Present in the following documents:

• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7

View BVdb publication page