Publications:

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: 2276G>A; Ser759Asn; rs786202270

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Sequential and co-occurring DNA damage response genetic mutations impact survival in stage III colorectal cancer patients receiving adjuvant oxaliplatin-based chemotherapy.

Bmc Cancer

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Chan, Ren-Hao RH; Lin, Bo-Wen BW; Chen, Po-Chuan PC; Pan, Chien-Chang CC; Shen, Meng-Ru MR

Publication Date: 2021-03-02

Variant appearance in text: ATM: S759N

PubMed Link: 33653301

Variant Present in the following documents:

• 12885_2021_7926_MOESM1_ESM.pdf

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Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Plos One

Kang, Guhyun G; Hwang, Woo Cheol WC; Do, In-Gu IG; Wang, Kai K; Kang, So Young SY; Lee, Jeeyun J; Park, Se Hoon SH; Park, Joon Oh JO; Kang, Won Ki WK; Jang, Jiryeon J; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Min Ji MJ; Kim, Seonwoo S; Park, Cheol Keun CK; Kim, Kyoung-Mee KM

Publication Date: 2013

Variant appearance in text: ATM: 2276G>A

PubMed Link: 24376576

Variant Present in the following documents:

• Main text

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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Breast Cancer Research And Treatment

Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ

Publication Date: 2008-01

Variant appearance in text: ATM: S759N

PubMed Link: 17393301

Variant Present in the following documents:

• Main text
• 10549_2007_Article_9543.pdf

View BVdb publication page