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: 4776+2T>A; rs587781927

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: 4776+2T>A

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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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: ATM: 4776+2T>A

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.

Ebiomedicine

Mizukami, Keijiro K; Iwasaki, Yusuke Y; Kawakami, Eiryo E; Hirata, Makoto M; Kamatani, Yoichiro Y; Matsuda, Koichi K; Endo, Mikiko M; Sugano, Kokichi K; Yoshida, Teruhiko T; Murakami, Yoshinori Y; Nakagawa, Hidewaki H; Spurdle, Amanda B AB; Momozawa, Yukihide Y

Publication Date: 2020-10

Variant appearance in text: ATM: 4776+2T>A

PubMed Link: 32980694

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Npj Breast Cancer

Kaneyasu, Tomoko T; Mori, Seiichi S; Yamauchi, Hideko H; Ohsumi, Shozo S; Ohno, Shinji S; Aoki, Daisuke D; Baba, Shinichi S; Kawano, Junko J; Miki, Yoshio Y; Matsumoto, Naomichi N; Nagasaki, Masao M; Yoshida, Reiko R; Akashi-Tanaka, Sadako S; Iwase, Takuji T; Kitagawa, Dai D; Masuda, Kenta K; Hirasawa, Akira A; Arai, Masami M; Takei, Junko J; Ide, Yoshimi Y; Gotoh, Osamu O; Yaguchi, Noriko N; Nishi, Mitsuyo M; Kaneko, Keika K; Matsuyama, Yumi Y; Okawa, Megumi M; Suzuki, Misato M; Nezu, Aya A; Yokoyama, Shiro S; Amino, Sayuri S; Inuzuka, Mayuko M; Noda, Tetsuo T; Nakamura, Seigo S

Publication Date: 2020

Variant appearance in text: ATM: 4776+2T>A

PubMed Link: 32566746

Variant Present in the following documents:

• Main text
• 41523_2020_163_MOESM1_ESM.pdf
• 41523_2020_Article_163.pdf

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: ATM: 4776+2T>A

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 4776+2T>A

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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