Publications:

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: ATM: 5497-15G>C; rs3092828

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Cancers

Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M

Publication Date: 2020-08-03

Variant appearance in text: ATM: 5497-15G>C; rs3092828

PubMed Link: 32756499

Variant Present in the following documents:

• cancers-12-02151-s001.pdf

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs3092828

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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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: 5497-15G>C; rs3092828

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp007.pdf
• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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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: 5497-15G>C; rs3092828

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM7_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1

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: 5497-15G>C; rs3092828

PubMed Link: 19347964

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of common ATM variants with familial breast cancer in a South American population.

Bmc Cancer

González-Hormazábal, Patricio P; Bravo, Teresa T; Blanco, Rafael R; Valenzuela, Carlos Y CY; Gómez, Fernando F; Waugh, Enrique E; Peralta, Octavio O; Ortuzar, Waldo W; Reyes, Jose M JM; Jara, Lilian L

Publication Date: 2008-04-23

Variant appearance in text: rs3092828

PubMed Link: 18433505

Variant Present in the following documents:

• Main text
• 1471-2407-8-117.pdf

View BVdb publication page

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