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: ATM: 2418G>T; L806F; rs587781296

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ATM: 2418G>T; Leu806Phe; rs587781296

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 4

View BVdb publication page

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: ATM: 2418G>T; Leu806Phe; rs587781296

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

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: 2418G>T; Leu806Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

ATP-driven Rad50 conformations regulate DNA tethering, end resection, and ATM checkpoint signaling.

The Embo Journal

Deshpande, Rajashree A RA; Williams, Gareth J GJ; Limbo, Oliver O; Williams, R Scott RS; Kuhnlein, Jeff J; Lee, Ji-Hoon JH; Classen, Scott S; Guenther, Grant G; Russell, Paul P; Tainer, John A JA; Paull, Tanya T TT

Publication Date: 2014-03-03

Variant appearance in text: ATM: L806F

PubMed Link: 24493214

Variant Present in the following documents:

• Main text

View BVdb publication page