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: 3402+32_3402+34del

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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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: ATM: 3402+30_3402+32del

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers

Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M

Publication Date: 2018-11-14

Variant appearance in text: ATM: 3402+32_3402+34del

PubMed Link: 30441849

Variant Present in the following documents:

• cancers-10-00442-s001.pdf

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: ATM: 3402+30_3402+32del

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.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: 3402+32_3402+34del

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Molecular Genetics & Genomic Medicine

Podralska, Marta Joanna MJ; Stembalska, Agnieszka A; Ślęzak, Ryszard R; Lewandowicz-Uszyńska, Aleksandra A; Pietrucha, Barbara B; Kołtan, Sylwia S; Wigowska-Sowińska, Jadwiga J; Pilch, Jacek J; Mosor, Maria M; Ziółkowska-Suchanek, Iwona I; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R

Publication Date: 2014-11

Variant appearance in text: ATM: 3402+30_3402+32del

PubMed Link: 25614872

Variant Present in the following documents:

• Main text
• mgg30002-0504.pdf

View BVdb publication page

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