Publications:

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Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: ATM: 5155delA; N1719fs

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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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: 5156delA; Asn1719Ilefs*5

PubMed Link: 35365198

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1518.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: ATM: 5156del; Asn1719Ilefs*5

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: ATM: 5156del; Asn1719Ilefs*5

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Extended gene panel testing in lobular breast cancer.

Familial Cancer

van Veen, Elke M EM; Evans, D Gareth DG; Harkness, Elaine F EF; Byers, Helen J HJ; Ellingford, Jamie M JM; Woodward, Emma R ER; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ

Publication Date: 2022-04

Variant appearance in text: ATM: 5155delA; Asn1719Ilefs*5

PubMed Link: 33763779

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.

Movement Disorders Clinical Practice

Thompson, Sarah S; Iyer, Anand A; Byrd, Philip P; Taylor, Malcolm M; Spinty, Stefan S

Publication Date: 2014-09

Variant appearance in text: ATM: 5156delA; Asn1719Ilefs*5

PubMed Link: 30713859

Variant Present in the following documents:

• Main text

View BVdb publication page

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