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: 2879C>A; P960H; rs587779828

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ATM: P960H; rs587779828

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: ATM: 2879C>A

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: ATM: 2879C>A; P960H; rs587779828

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

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: 2879C>A; P960H; rs587779828

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science

Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2021-03

Variant appearance in text: ATM: P960H

PubMed Link: 33421217

Variant Present in the following documents:

• Main text
• CAS-112-1310-s003.xlsx, sheet 1

View BVdb publication page

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Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations.

Cancers

Tomita, Sakura S; Kikuti, Yara Yukie YY; Carreras, Joaquim J; Sakai, Rika R; Takata, Katsuyoshi K; Yoshino, Tadashi T; Bea, Silvia S; Campo, Elias E; Missiaglia, Edoardo E; Bouilly, Justine J; Letourneau, Audrey A; de Leval, Laurence L; Nakamura, Naoya N

Publication Date: 2020-11-27

Variant appearance in text: ATM: Pro960His

PubMed Link: 33260897

Variant Present in the following documents:

• Main text
• cancers-12-03539.pdf
• cancers-12-03539-s001.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: 2879C>A; Pro960His; rs587779828

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 2879C>A; Pro960His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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