Publications:

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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: 1402_1403del; Lys468fs

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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Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: ATM: 1402_1403del; K468fs

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 2
• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE

Publication Date: 2022-11-21

Variant appearance in text: ATM: 1402_1403del; Lys468fs

PubMed Link: 36414972

Variant Present in the following documents:

• 13073_2022_1139_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: ATM: 1402_1403del; K468Efs*18; rs587781347

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: ATM: 1402_1403delAA; K468Efs*18; rs587781347

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_28840_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: ATM: 1402_1403delAA; Lys468fs

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: ATM: 1402_1403delAA; Lys468fs

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Cancer Biology & Medicine

Yao, Jianfei J; Zhen, Yunhuan Y; Fan, Jing J; Gong, Yuan Y; Ye, Yumeng Y; Guo, Shaohua S; Liu, Hongyi H; Li, Xiaoyun X; Li, Guosheng G; Yang, Pan P; Wang, Xiaohui X; Liu, Danni D; Huang, Tanxiao T; Cao, Huiya H; Suo, Peisu P; Li, Yuemin Y; Yu, Jingbo J; Song, Lele L

Publication Date: 2022-01-12

Variant appearance in text: ATM: 1402_1403del

PubMed Link: 35014770

Variant Present in the following documents:

• Main text
• cbm-19-707.pdf

View BVdb publication page

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Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.

Jco Precision Oncology

Levine, Monica D MD; Pearlman, Rachel R; Hampel, Heather H; Cosgrove, Casey C; Cohn, David D; Chassen, Alexis A; Suarez, Adrian A; Barrington, David A DA; McElroy, Joseph P JP; Waggoner, Steven S; Nakayama, John J; Billingsley, Caroline C; Resnick, Kim K; Andrews, Stephen S; Singh, Sareena S; Jenison, Eric E; Clements, Aine A; Neff, Robert R; Goodfellow, Paul J PJ; ,

Publication Date: 2021-11

Variant appearance in text: ATM: 1402_1403del; Lys468Glufs*18

PubMed Link: 34994648

Variant Present in the following documents:

• po-5-1588.pdf

View BVdb publication page

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Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.

Frontiers In Genetics

Su, Yifan Y; Yao, Qianlan Q; Xu, Yuyin Y; Yu, Chengli C; Zhang, Jing J; Wang, Qian Q; Li, Jiwei J; Shi, Di D; Yu, Baohua B; Zeng, Yupeng Y; Zhu, Xiaoli X; Bai, Qianming Q; Zhou, Xiaoyan X

Publication Date: 2021

Variant appearance in text: ATM: 1402_1403del; Lys468Glufs

PubMed Link: 34917121

Variant Present in the following documents:

• Main text
• fgene-12-674094.pdf

View BVdb publication page

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Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: ATM: 1402_1403del

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: ATM: 1402_1403del; K468fs

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: ATM: 1402_1403del; K468fs

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Cancers

Gargallo, Pablo P; Oltra, Silvestre S; Yáñez, Yania Y; Juan-Ribelles, Antonio A; Calabria, Inés I; Segura, Vanessa V; Lázaro, Marián M; Balaguer, Julia J; Tormo, Teresa T; Dolz, Sandra S; Fernández, José María JM; Fuentes, Carolina C; Torres, Bárbara B; Andrés, Mara M; Tasso, María M; Castel, Victoria V; Font de Mora, Jaime J; Cañete, Adela A

Publication Date: 2021-10-24

Variant appearance in text: ATM: 1402_1403del; K468Efs*18

PubMed Link: 34771502

Variant Present in the following documents:

• Main text
• cancers-13-05339.pdf

View BVdb publication page

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A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Biomedicines

Chiang, Ying-Cheng YC; Lin, Po-Han PH; Lu, Tzu-Pin TP; Kuo, Kuan-Ting KT; Tai, Yi-Jou YJ; Hsu, Heng-Cheng HC; Wu, Chia-Ying CY; Lee, Chia-Yi CY; Shen, Hung H; Chen, Chi-An CA; Cheng, Wen-Fang WF

Publication Date: 2021-10-03

Variant appearance in text: ATM: 1402_1403del; K468fs; rs587781347

PubMed Link: 34680501

Variant Present in the following documents:

• Main text

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: 1402_1403del; K468Efs*18

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

Journal Of Translational Medicine

Shui, Lin L; Li, Xiaofen X; Peng, Yang Y; Tian, Jiangfang J; Li, Shuangshuang S; He, Du D; Li, Ang A; Tian, Bole B; Li, Mao M; Gao, Heli H; An, Ning N; Yi, Cheng C; Cao, Dan D

Publication Date: 2021-07-12

Variant appearance in text: ATM: K468Efs*18

PubMed Link: 34247626

Variant Present in the following documents:

• Main text
• 12967_2021_Article_2972.pdf

View BVdb publication page

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The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Cancer Biology & Medicine

Fan, Yue Y; Ying, Haifeng H; Wu, Xueying X; Chen, Huan H; Hu, Ying Y; Zhang, Henghui H; Wu, Lijia L; Yang, Ying Y; Mao, Beibei B; Zheng, Lan L

Publication Date: 2020-11-15

Variant appearance in text: ATM: 1402_1403delAA; K468Efs*18

PubMed Link: 33299649

Variant Present in the following documents:

• cbm-17-1002-s001.pdf

View BVdb publication page

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Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International

Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y

Publication Date: 2020

Variant appearance in text: ATM: 1402_1403delAA; Lys468fs

PubMed Link: 33062672

Variant Present in the following documents:

• Main text
• BMRI2020-2495157.pdf

View BVdb publication page

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Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Esai Selvan, Myvizhi M; Zauderer, Marjorie G MG; Rudin, Charles M CM; Jones, Siân S; Mukherjee, Semanti S; Offit, Kenneth K; Onel, Kenan K; Rennert, Gad G; Velculescu, Victor E VE; Lipkin, Steven M SM; Klein, Robert J RJ; Gümüş, Zeynep H ZH

Publication Date: 2020-12

Variant appearance in text: N/A

PubMed Link: 32866655

Variant Present in the following documents:

View BVdb publication page

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Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Cancer Science

Ryu, Jin-Sun JS; Lee, Hye-Young HY; Cho, Eun Hae EH; Yoon, Kyong-Ah KA; Kim, Min-Kyeong MK; Joo, Jungnam J; Lee, Eun-Sook ES; Kang, Han-Sung HS; Lee, Seeyoun S; Lee, Dong Ock DO; Lim, Myong Cheol MC; Kong, Sun-Young SY

Publication Date: 2020-10

Variant appearance in text: ATM: 1402_1403delAA; Lys468Glufs*18

PubMed Link: 32761968

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: ATM: 1402_1403del

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ATM: 1402_1403delAA; Lys468fs; rs587781347

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia

Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC

Publication Date: 2020-07

Variant appearance in text: N/A

PubMed Link: 32015491

Variant Present in the following documents:

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ATM: 1402_1403delAA; Lys468fs

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1

View BVdb publication page

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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: ATM: 1402_1403delAA; Lys468Glufs

PubMed Link: 30850667

Variant Present in the following documents:

• 41598_2019_40571_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: ATM: 1402_1403delAA; Lys468Glufs

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.

Frontiers In Immunology

Pietrucha, Barbara B; Heropolitańska-Pliszka, Edyta E; Geffers, Robert R; Enßen, Julia J; Wieland, Britta B; Bogdanova, Natalia Valerijevna NV; Dörk, Thilo T

Publication Date: 2017

Variant appearance in text: ATM: 1402_1403delAA

PubMed Link: 29255463

Variant Present in the following documents:

• Main text
• fimmu-08-01683.pdf

View BVdb publication page

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

European Journal Of Human Genetics : Ejhg

Vogelaar, Ingrid P IP; van der Post, Rachel S RS; van Krieken, J Han Jm JHJ; Spruijt, Liesbeth L; van Zelst-Stams, Wendy Ag WA; Kets, C Marleen CM; Lubinski, Jan J; Jakubowska, Anna A; Teodorczyk, Urszula U; Aalfs, Cora M CM; van Hest, Liselotte P LP; Pinheiro, Hugo H; Oliveira, Carla C; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; de Ligt, Joep J; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Goeman, Jelle J JJ; Schackert, Hans K HK; Ranzani, Guglielmina N GN; Molinaro, Valeria V; Gómez García, Encarna B EB; Hes, Frederik J FJ; Holinski-Feder, Elke E; Genuardi, Maurizio M; Ausems, Margreet G E M MGEM; Sijmons, Rolf H RH; Wagner, Anja A; van der Kolk, Lizet E LE; Bjørnevoll, Inga I; Høberg-Vetti, Hildegunn H; van Kessel, Ad Geurts AG; Kuiper, Roland P RP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N

Publication Date: 2017-11

Variant appearance in text: ATM: 1402_1403del; Lys468Glufs*18

PubMed Link: 28875981

Variant Present in the following documents:

• ejhg2017138x4.xlsx, sheet 1
• ejhg2017138x3.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: 1402_1403delAA; Lys468Glufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 1402_1403delAA; Lys468fs

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Mutations driving CLL and their evolution in progression and relapse.

Nature

Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ

Publication Date: 2015-10-22

Variant appearance in text: ATM: 1402_1403delAA; K468fs

PubMed Link: 26466571

Variant Present in the following documents:

• NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
• NIHMS715090-supplement-Supplementary_Table_10.xlsx, sheet 1

View BVdb publication page

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Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

World Journal Of Gastroenterology

Zhang, Jun-Xiao JX; Fu, Lei L; de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Jin, Peng P; Lv, Chen-Xi CX; Verwiel, Eugène Tp ET; Ligtenberg, Marjolijn Jl MJ; Hoogerbrugge, Nicoline N; Kuiper, Roland P RP; Sheng, Jian-Qiu JQ; Geurts van Kessel, Ad A

Publication Date: 2015-04-14

Variant appearance in text: ATM: 1402_1403del; Lys468Glufs*18

PubMed Link: 25892863

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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

LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E

Publication Date: 2014-11

Variant appearance in text: ATM: 1402_1403delAA

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

View BVdb publication page

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Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurian, Allison W AW; Hare, Emily E EE; Mills, Meredith A MA; Kingham, Kerry E KE; McPherson, Lisa L; Whittemore, Alice S AS; McGuire, Valerie V; Ladabaum, Uri U; Kobayashi, Yuya Y; Lincoln, Stephen E SE; Cargill, Michele M; Ford, James M JM

Publication Date: 2014-07-01

Variant appearance in text: ATM: 1402_1403delAA; Lys468GlufsX18

PubMed Link: 24733792

Variant Present in the following documents:

• Main text

View BVdb publication page

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