Publications:

Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.

Npj Breast Cancer

Matis, Thibaut S TS; Zayed, Nadia N; Labraki, Bouchra B; de Ladurantaye, Manon M; Matis, Théophane A TA; Camacho Valenzuela, José J; Hamel, Nancy N; Atayan, Adrienne A; Rivera, Barbara B; Tabach, Yuval Y; Tonin, Patricia N PN; Orthwein, Alexandre A; Mes-Masson, Anne-Marie AM; El Haffaf, Zaki Z; Foulkes, William D WD; Polak, Paz P

Publication Date: 2021-08-25

Variant appearance in text: ATM: 1538A>G; Q513R

PubMed Link: 34433815

Variant Present in the following documents:

• Main text
• 41523_2021_Article_315.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: 1538A>G; Q513R; rs753109010

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: ATM: 1538A>G

PubMed Link: 27067391

Variant Present in the following documents:

• Main text
• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM12_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM8_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_Article_178.pdf

View BVdb publication page