ATM c.242dup ;(p.N81Kfs*19)

Variant ID: 11-108099958-C-CA

NM_000051.3(ATM):c.242dup;(p.N81Kfs*19)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 242dup; Asn81fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 240dupA
PubMed Link: 32566746
Variant Present in the following documents:
  • Main text
  • 41523_2020_Article_163.pdf
View BVdb publication page