Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: ATM: 7570G>C; Ala2524Pro; rs769142993

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ATM: 7570G>C; Ala2524Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

Cancers

Nurmi, Anna K AK; Suvanto, Maija M; Dennis, Joe J; Aittomäki, Kristiina K; Blomqvist, Carl C; Nevanlinna, Heli H

Publication Date: 2022-12-14

Variant appearance in text: ATM: 7570G>C; Ala2524Pro

PubMed Link: 36551643

Variant Present in the following documents:

• Main text
• cancers-14-06158.pdf

View BVdb publication page

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A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.

Ejhaem

Hakkarainen, Marja M; Koski, Jessica R JR; Heckman, Caroline A CA; Anttila, Pekka P; Silvennoinen, Raija R; Lievonen, Juha J; Kilpivaara, Outi O; Wartiovaara-Kautto, Ulla U

Publication Date: 2022-11

Variant appearance in text: ATM: Ala2524Pro

PubMed Link: 36467798

Variant Present in the following documents:

• Main text
• JHA2-3-1352.pdf

View BVdb publication page

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ATM c.7570G>C is a high-risk allele for breast cancer.

International Journal Of Cancer

Kankuri-Tammilehto, Minna M; Tervasmäki, Anna A; Kraatari-Tiri, Minna M; Rahikkala, Elisa E; Pylkäs, Katri K; Kuismin, Outi O

Publication Date: 2022-09-26

Variant appearance in text: ATM: 7570G>C; Ala2524Pro; rs769142993

PubMed Link: 36161273

Variant Present in the following documents:

• Main text
• IJC-152-429.pdf

View BVdb publication page

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Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine

Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C

Publication Date: 2022-08-29

Variant appearance in text: ATM: 7570G>C; Ala2524Pro

PubMed Link: 36038884

Variant Present in the following documents:

• 13073_2022_1104_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 7570G>C; Ala2524Pro; rs769142993

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS4.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1

View BVdb publication page

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Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology

Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H

Publication Date: 2021

Variant appearance in text: ATM: 7570G>C; Ala2524Pro

PubMed Link: 35095854

Variant Present in the following documents:

• Main text
• fimmu-12-779502.pdf
• DataSheet_1.pdf

View BVdb publication page

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: ATM: 7570G>C

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.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: 7570G>C; Ala2524Pro; rs769142993

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

European Urology Oncology

Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z

Publication Date: 2021-08

Variant appearance in text: ATM: 7570G>C; A2524P

PubMed Link: 33436325

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: ATM: 7570G>C; A2524P

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Genes

Rantapero, Tommi T; Wahlfors, Tiina T; Kähler, Anna A; Hultman, Christina C; Lindberg, Johan J; Tammela, Teuvo Lj TL; Nykter, Matti M; Schleutker, Johanna J; Wiklund, Fredrik F

Publication Date: 2020-03-14

Variant appearance in text: ATM: A2524P; rs769142993

PubMed Link: 32183364

Variant Present in the following documents:

• Main text
• genes-11-00314.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ATM: 7570G>C; A2524P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

International Journal Of Cancer

Nurmi, Anna A; Muranen, Taru A TA; Pelttari, Liisa M LM; Kiiski, Johanna I JI; Heikkinen, Tuomas T; Lehto, Sini S; Kallioniemi, Anne A; Schleutker, Johanna J; Bützow, Ralf R; Blomqvist, Carl C; Aittomäki, Kristiina K; Nevanlinna, Heli H

Publication Date: 2019-11-15

Variant appearance in text: ATM: 7570G>C; Ala2524Pro; rs769142993

PubMed Link: 30927251

Variant Present in the following documents:

• Main text
• IJC-145-2692.pdf
• IJC-145-2692-s001.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATM: A2524P

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: ATM: A2524P

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

View BVdb publication page

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ATM variants and cancer risk in breast cancer patients from Southern Finland.

Bmc Cancer

Tommiska, Johanna J; Jansen, Laila L; Kilpivaara, Outi O; Edvardsen, Hege H; Kristensen, Vessela V; Tamminen, Anitta A; Aittomäki, Kristiina K; Blomqvist, Carl C; Børresen-Dale, Anne-Lise AL; Nevanlinna, Heli H

Publication Date: 2006-08-16

Variant appearance in text: ATM: A2524P

PubMed Link: 16914028

Variant Present in the following documents:

• Main text

View BVdb publication page

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ATM haplotypes and breast cancer risk in Jewish high-risk women.

British Journal Of Cancer

Koren, M M; Kimmel, G G; Ben-Asher, E E; Gal, I I; Papa, M Z MZ; Beckmann, J S JS; Lancet, D D; Shamir, R R; Friedman, E E

Publication Date: 2006-05-22

Variant appearance in text: ATM: Ala2524Pro

PubMed Link: 16622469

Variant Present in the following documents:

• Main text
• 94-6603062a.pdf

View BVdb publication page

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