Publications:

The interplay of cell cycle and DNA repair gene alterations in upper tract urothelial carcinoma: predictive and prognostic implications.

Precision Clinical Medicine

Vlachostergios, Panagiotis J PJ

Publication Date: 2020-09

Variant appearance in text: ATM: Thr2921Lys

PubMed Link: 35694415

Variant Present in the following documents:

• Main text
• pbaa020.pdf

View BVdb publication page

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: ATM: 8762C>A; T2921K; rs730881329

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.

Jama Oncology

Stuttgen, Kelsey K; Croessmann, Sarah S; Fetting, John J; Stearns, Vered V; Nunes, Raquel R; Connolly, Roisin M RM; Park, Ben Ho BH

Publication Date: 2019-10-01

Variant appearance in text: ATM: 8762C>A; Thr2921Lys

PubMed Link: 31465090

Variant Present in the following documents:

• Main text

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 8762C>A; Thr2921Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page