Publications:

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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Dowty, James G JG; Steen, Jason A JA; Li, Shuai S; Winship, Ingrid M IM; Giles, Graham G GG; Hopper, John L JL; Southey, Melissa C MC; Nguyen-Dumont, Tú T

Publication Date: 2022-04-01

Variant appearance in text: ATM: 8741T>C; Ile2914Thr

PubMed Link: 35365198

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1518.pdf

View BVdb publication page

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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: 8741T>C; I2914T; rs780303327

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics

Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV

Publication Date: 2016-06

Variant appearance in text: ATM: 8741T>C

PubMed Link: 26787654

Variant Present in the following documents:

• jmedgenet-2015-103398-s2.pdf

View BVdb publication page

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Rare variants in the ATM gene and risk of breast cancer.

Breast Cancer Research : Bcr

Goldgar, David E DE; Healey, Sue S; Dowty, James G JG; Da Silva, Leonard L; Chen, Xiaoqing X; Spurdle, Amanda B AB; Terry, Mary Beth MB; Daly, Mary J MJ; Buys, Saundra M SM; Southey, Melissa C MC; Andrulis, Irene I; John, Esther M EM; , ; , ; Khanna, Kum Kum KK; Hopper, John L JL; Oefner, Peter J PJ; Lakhani, Sunil S; Chenevix-Trench, Georgia G

Publication Date: 2011-07-25

Variant appearance in text: ATM: 8741T>C

PubMed Link: 21787400

Variant Present in the following documents:

• Main text
• bcr2919.pdf

View BVdb publication page

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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

American Journal Of Human Genetics

Tavtigian, Sean V SV; Oefner, Peter J PJ; Babikyan, Davit D; Hartmann, Anne A; Healey, Sue S; Le Calvez-Kelm, Florence F; Lesueur, Fabienne F; Byrnes, Graham B GB; Chuang, Shu-Chun SC; Forey, Nathalie N; Feuchtinger, Corinna C; Gioia, Lydie L; Hall, Janet J; Hashibe, Mia M; Herte, Barbara B; McKay-Chopin, Sandrine S; Thomas, Alun A; Vallée, Maxime P MP; Voegele, Catherine C; Webb, Penelope M PM; Whiteman, David C DC; , ; , ; , ; Sangrajrang, Suleeporn S; Hopper, John L JL; Southey, Melissa C MC; Andrulis, Irene L IL; John, Esther M EM; Chenevix-Trench, Georgia G

Publication Date: 2009-10

Variant appearance in text: ATM: I2914T

PubMed Link: 19781682

Variant Present in the following documents:

• Main text

View BVdb publication page

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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Human Mutation

Nguyen-Dumont, Tú T; Calvez-Kelm, Florence Le FL; Forey, Nathalie N; McKay-Chopin, Sandrine S; Garritano, Sonia S; Gioia-Patricola, Lydie L; De Silva, Deepika D; Weigel, Ron R; Sangrajrang, Suleeporn S; Lesueur, Fabienne F; Tavtigian, Sean V SV; , ; ,

Publication Date: 2009-06

Variant appearance in text: ATM: 8741T>C; Ile2914Thr

PubMed Link: 19347964

Variant Present in the following documents:

• Main text

View BVdb publication page

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