CHEK2 c.538C>T ;(p.R180C)

Variant ID: 22-29121019-G-A

NM_007194.3(CHEK2):c.538C>T;(p.R180C)

This variant was identified in 62 publications

View GRCh38 version.




Publications:


A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: CHEK2: R180C; rs77130927
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients.

Frontiers In Oncology
Liu, Yixiao Y; Jin, Bo B; Shen, Cheng C; Gao, Xianshu X; Qi, Xin X; Ma, Mingwei M; Li, Hongzhen H; Hao, Han H; Tang, Qi Q; Yang, Kaiwei K; Mi, Yue Y; Guan, Jie J; Feng, Xuero X; He, Zhisong Z; Li, Haixia H; Yu, Wei W
Publication Date: 2023

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 37064136
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
  • Table_1.xlsx, sheet 2
View BVdb publication page



Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Genome Medicine
Nacer, Deborah F DF; Vallon-Christersson, Johan J; Nordborg, Nicklas N; Ehrencrona, Hans H; Kvist, Anders A; Borg, Åke Å; Staaf, Johan J
Publication Date: 2023-04-14

Variant appearance in text: CHEK2: 538C>T; Arg180Cys
PubMed Link: 37060015
Variant Present in the following documents:
  • 13073_2023_1177_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



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: CHEK2: 538C>T; R180C; rs77130927
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Medrxiv : The Preprint Server For Health Sciences
Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM
Publication Date: 2023-01-19

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 36712083
Variant Present in the following documents:
  • media-1.xlsx, sheet 5
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: CHEK2: R180C; rs77130927
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 19
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.

Frontiers In Endocrinology
Vallera, Raphaelle D RD; Ding, Yanli Y; Hatanpaa, Kimmo J KJ; Bishop, Justin A JA; Mirfakhraee, Sasan S; Alli, Abdel A AA; Tevosian, Sergei G SG; Tabebi, Mouna M; Gimm, Oliver O; Söderkvist, Peter P; Estrada-Zuniga, Cynthia C; Dahia, Patricia L M PLM; Ghayee, Hans K HK
Publication Date: 2022

Variant appearance in text: CHEK2: R180C
PubMed Link: 36440216
Variant Present in the following documents:
  • Main text
  • fendo-13-1024108.pdf
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: CHEK2: R180C
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: CHEK2: 538C>T
PubMed Link: 36065483
Variant Present in the following documents:
  • CAS-113-3972-s007.pdf
View BVdb publication page



Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery
Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT
Publication Date: 2022-11-02

Variant appearance in text: CHEK2: R180C
PubMed Link: 35960210
Variant Present in the following documents:
  • bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10
View BVdb publication page



Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18

Variant appearance in text: CHEK2: 538C>T; Arg180Cys
PubMed Link: 35585550
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1052.pdf
View BVdb publication page



Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology
So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH
Publication Date: 2022-05

Variant appearance in text: rs77130927
PubMed Link: 35534218
Variant Present in the following documents:
  • icu-63-294-s001.xls, sheet 1
View BVdb publication page



Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Hgg Advances
Ward, Lucas D LD; Parker, Margaret M MM; Deaton, Aimee M AM; Tu, Ho-Chou HC; Flynn-Carroll, Alexander O AO; Hinkle, Gregory G; Nioi, Paul P
Publication Date: 2022-04-14

Variant appearance in text: rs77130927
PubMed Link: 35493704
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
View BVdb publication page



Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Frontiers In Oncology
Kyrochristos, Ioannis D ID; Glantzounis, Georgios K GK; Goussia, Anna A; Eliades, Alexia A; Achilleos, Achilleas A; Tsangaras, Kyriakos K; Hadjidemetriou, Irene I; Elpidorou, Marilena M; Ioannides, Marios M; Koumbaris, George G; Mitsis, Michail M; Patsalis, Philippos C PC; Roukos, Dimitrios D
Publication Date: 2022

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 35402285
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
  • Table_1.xlsx, sheet 2
  • Table_1.xlsx, sheet 6
View BVdb publication page



Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 35372080
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Frontiers In Endocrinology
Sánchez-Ares, María M; Cameselle-García, Soledad S; Abdulkader-Nallib, Ihab I; Rodríguez-Carnero, Gemma G; Beiras-Sarasquete, Carolina C; Puñal-Rodríguez, José Antonio JA; Cameselle-Teijeiro, José Manuel JM
Publication Date: 2022

Variant appearance in text: CHEK2: Arg180Cys
PubMed Link: 35295987
Variant Present in the following documents:
  • Main text
  • fendo-13-829103.pdf
View BVdb publication page



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: CHEK2: 538C>T; R180C; rs77130927
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: CHEK2: R180C; rs77130927
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Cancer Research
Boonen, Rick A C M RACM; Wiegant, Wouter W WW; Celosse, Nandi N; Vroling, Bas B; Heijl, Stephan S; Kote-Jarai, Zsofia Z; Mijuskovic, Martina M; Cristea, Simona S; Solleveld-Westerink, Nienke N; van Wezel, Tom T; Beerenwinkel, Niko N; Eeles, Rosalind R; Devilee, Peter P; Vreeswijk, Maaike P G MPG; Marra, Giancarlo G; van Attikum, Haico H
Publication Date: 2022-02-15

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 34903604
Variant Present in the following documents:
  • Main text
  • can-21-1845_supplementary_table_s3_supps3.xlsx, sheet 1
  • 615.pdf
View BVdb publication page



Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20

Variant appearance in text: CHEK2: R180C
PubMed Link: 34285288
Variant Present in the following documents:
  • 41598_2021_94292_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



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: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



DNA Damage Repair Defects and Survival Outcomes for Patients With Resected Pancreatic Ductal Adenocarcinoma.

Pancreas
Chang, Amy E AE; Radke, Marc R MR; Zhen, David B DB; Baker, Kelsey K KK; Coveler, Andrew L AL; Wong, Kit Man KM; Pillarisetty, Venu G VG; Reddi, Deepti D; Redman, Mary W MW; Swisher, Elizabeth E; Chiorean, Elena Gabriela EG
Publication Date: 2021

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 34106577
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.

Cancers
Nguyen-Dumont, Tú T; Dowty, James G JG; Steen, Jason A JA; Renault, Anne-Laure AL; Hammet, Fleur F; Mahmoodi, Maryam M; Theys, Derrick D; Rewse, Amanda A; Tsimiklis, Helen H; Winship, Ingrid M IM; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Southey, Melissa C MC
Publication Date: 2021-03-18

Variant appearance in text: CHEK2: 538C>T
PubMed Link: 33803639
Variant Present in the following documents:
  • Main text
  • cancers-13-01378.pdf
View BVdb publication page



Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Endocrine Pathology
Cameselle-Teijeiro, José Manuel JM; Mete, Ozgur O; Asa, Sylvia L SL; LiVolsi, Virginia V
Publication Date: 2021-03

Variant appearance in text: CHEK2: R180C
PubMed Link: 33495912
Variant Present in the following documents:
  • Main text
  • 12022_2020_Article_9661.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation
Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI
Publication Date: 2021-03

Variant appearance in text: CHEK2: 538C>T; Arg180Cys
PubMed Link: 33326660
Variant Present in the following documents:
  • Main text
  • HUMU-42-290.pdf
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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation
Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI
Publication Date: 2021-03

Variant appearance in text: CHEK2: 538C>T; Arg180Cys
PubMed Link: 33326660
Variant Present in the following documents:
  • Main text
  • HUMU-42-290.pdf
View BVdb publication page



CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.

Cells
Stolarova, Lenka L; Kleiblova, Petra P; Janatova, Marketa M; Soukupova, Jana J; Zemankova, Petra P; Macurek, Libor L; Kleibl, Zdenek Z
Publication Date: 2020-12-12

Variant appearance in text: CHEK2: R180C
PubMed Link: 33322746
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Frontiers In Genetics
Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T
Publication Date: 2020

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 33193653
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



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: CHEK2: 538C>T; Arg180Cys
PubMed Link: 33062672
Variant Present in the following documents:
  • 2495157.f1.xlsx, sheet 5
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: CHEK2: R180C
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: CHEK2: 538C>T; rs77130927
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 31882575
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55515.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: CHEK2: 538C>T; Arg180*
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Plos One
Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Shah, Franky D FD
Publication Date: 2019

Variant appearance in text: rs77130927
PubMed Link: 31398194
Variant Present in the following documents:
  • Main text
  • pone.0220711.pdf
View BVdb publication page



Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics
Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-05-30

Variant appearance in text: CHEK2: 538C>T; R180C
PubMed Link: 31146700
Variant Present in the following documents:
  • 12881_2019_813_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Breast Cancer Research : Bcr
Petridis, Christos C; Arora, Iteeka I; Shah, Vandna V; Megalios, Anargyros A; Moss, Charlotte C; Mera, Anca A; Clifford, Angela A; Gillett, Cheryl C; Pinder, Sarah E SE; Tomlinson, Ian I; Roylance, Rebecca R; Simpson, Michael A MA; Sawyer, Elinor J EJ
Publication Date: 2019-05-06

Variant appearance in text: CHEK2: R180C; rs77130927
PubMed Link: 31060593
Variant Present in the following documents:
  • Main text
  • 13058_2019_Article_1143.pdf
View BVdb publication page



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: CHEK2: 538C>T
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
  • 41467_2018_6581_MOESM1_ESM.pdf
View BVdb publication page



Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports.

Medicine
Li, Qiang Q; Zhao, Feilong F; Ju, Yan Y
Publication Date: 2018-06

Variant appearance in text: CHEK2: R180C
PubMed Link: 29879026
Variant Present in the following documents:
  • Main text
  • medi-97-e10894.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
View BVdb publication page



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: CHEK2: 538C>T; Arg180Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Current perspectives on CHEK2 mutations in breast cancer.

Breast Cancer (Dove Medical Press)
Apostolou, Panagiotis P; Papasotiriou, Ioannis I
Publication Date: 2017

Variant appearance in text: CHEK2: R180C
PubMed Link: 28553140
Variant Present in the following documents:
  • Main text
  • bctt-9-331.pdf
View BVdb publication page



Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2016-12

Variant appearance in text: CHEK2: Arg180Cys
PubMed Link: 27621404
Variant Present in the following documents:
  • JCO.2016.68.4316.pdf
View BVdb publication page



PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Journal Of Medical Genetics
Southey, Melissa C MC; Goldgar, David E DE; Winqvist, Robert R; Pylkäs, Katri K; Couch, Fergus F; Tischkowitz, Marc M; Foulkes, William D WD; Dennis, Joe J; Michailidou, Kyriaki K; van Rensburg, Elizabeth J EJ; Heikkinen, Tuomas T; Nevanlinna, Heli H; Hopper, John L JL; Dörk, Thilo T; Claes, Kathleen Bm KB; Reis-Filho, Jorge J; Teo, Zhi Ling ZL; Radice, Paolo P; Catucci, Irene I; Peterlongo, Paolo P; Tsimiklis, Helen H; Odefrey, Fabrice A FA; Dowty, James G JG; Schmidt, Marjanka K MK; Broeks, Annegien A; Hogervorst, Frans B FB; Verhoef, Senno S; Carpenter, Jane J; Clarke, Christine C; Scott, Rodney J RJ; Fasching, Peter A PA; Haeberle, Lothar L; Ekici, Arif B AB; Beckmann, Matthias W MW; Peto, Julian J; Dos-Santos-Silva, Isabel I; Fletcher, Olivia O; Johnson, Nichola N; Bolla, Manjeet K MK; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Marme, Federik F; Burwinkel, Barbara B; Yang, Rongxi R; Guénel, Pascal P; Truong, Thérèse T; Menegaux, Florence F; Sanchez, Marie M; Bojesen, Stig S; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan S; Ziogas, Argyrios A; Clarke, Christina A CA; Brenner, Hermann H; Arndt, Volker V; Stegmaier, Christa C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Spurdle, Amanda B AB; Investigators, kConFab K; , ; Wauters, Els E; Smeets, Dominiek D; Beuselinck, Benoit B; Floris, Giuseppe G; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Olson, Janet E JE; Vachon, Celine C; Pankratz, Vernon S VS; McLean, Catriona C; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Zheng, Wei W; Hunter, David J DJ; Lindstrom, Sara S; Hankinson, Susan E SE; Kraft, Peter P; Andrulis, Irene I; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kauppila, Saila S; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Hollestelle, Antoinette A; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Eccles, Diana M DM; Rafiq, Sajjad S; Tapper, William J WJ; Gerty, Sue M SM; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Tilanus-Linthorst, Madeleine M; Hall, Per P; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Cox, Angela A; Reed, Malcolm W R MW; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Hamann, Ute U; Torres, Diana D; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Simard, Jacques J; Dumont, Martine M; Soucy, Penny P; Eeles, Rosalind R; Muir, Kenneth K; Wiklund, Fredrik F; Gronberg, Henrik H; Schleutker, Johanna J; Nordestgaard, Børge G BG; Weischer, Maren M; Travis, Ruth C RC; Neal, David D; Donovan, Jenny L JL; Hamdy, Freddie C FC; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Schaid, Daniel J DJ; Kelley, Joseph L JL; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Butterbach, Katja K; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Kote-Jarai, Zsofia Z; Olama, Ali Amin Al AA; Benlloch, Sara S; Renner, Stefan P SP; Hartmann, Arndt A; Hein, Alexander A; Ruebner, Matthias M; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambretchs, Sandrina S; Doherty, Jennifer A JA; Rossing, Mary Anne MA; Nickels, Stefan S; Eilber, Ursula U; Wang-Gohrke, Shan S; Odunsi, Kunle K; Sucheston-Campbell, Lara E LE; Friel, Grace G; Lurie, Galina G; Killeen, Jeffrey L JL; Wilkens, Lynne R LR; Goodman, Marc T MT; Runnebaum, Ingo I; Hillemanns, Peter A PA; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Edwards, Robert P RP; Ness, Roberta B RB; Moysich, Kirsten B KB; du Bois, Andreas A; Heitz, Florian F; Harter, Philipp P; Kommoss, Stefan S; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Jensen, Allan A; Kjaer, Susanne Krüger SK; Høgdall, Estrid E; Peissel, Bernard B; Bonanni, Bernardo B; Bernard, Loris L; Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Larson, Melissa C MC; Fogarty, Zachary C ZC; Kalli, Kimberly R KR; Liang, Dong D; Lu, Karen H KH; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Dao, Fanny F; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Marks, Jeffrey R JR; Akushevich, Lucy L; Cramer, Daniel W DW; Schildkraut, Joellen J; Terry, Kathryn L KL; Poole, Elizabeth M EM; Stampfer, Meir M; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Bjorge, Line L; Salvesen, Helga B HB; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Pejovic, Tanja T; Bean, Yukie Y; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Górski, Bohdan B; Gronwald, Jacek J; Menkiszak, Janusz J; Høgdall, Claus K CK; Lundvall, Lene L; Nedergaard, Lotte L; Engelholm, Svend Aage SA; Dicks, Ed E; Tyrer, Jonathan J; Campbell, Ian I; McNeish, Iain I; Paul, James J; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Cai, Hui H; Shu, Xiao-Ou XO; Teten, Rachel T RT; Sutphen, Rebecca R; McLaughlin, John R JR; Narod, Steven A SA; Phelan, Catherine M CM; Monteiro, Alvaro N AN; Fenstermacher, David D; Lin, Hui-Yi HY; Permuth, Jennifer B JB; Sellers, Thomas A TA; Chen, Y Ann YA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Menon, Usha U; Wu, Anna H AH; Pearce, Celeste L CL; Van Den Berg, David D; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Moes-Sosnowska, Joanna J; Kupryjanczyk, Jolanta J; Pharoah, Paul Dp PD; Song, Honglin H; Winship, Ingrid I; Chenevix-Trench, Georgia G; Giles, Graham G GG; Tavtigian, Sean V SV; Easton, Doug F DF; Milne, Roger L RL
Publication Date: 2016-12

Variant appearance in text: CHEK2: 538C>T; Arg180Cys; rs77130927
PubMed Link: 27595995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: CHEK2: R180C; rs77130927
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 4
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs77130927
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling.

Scientific Reports
Tsuji, Toshiyuki T; Yoda, Takao T; Shirai, Tsuyoshi T
Publication Date: 2015-11-09

Variant appearance in text: CHEK2: R180C
PubMed Link: 26549015
Variant Present in the following documents:
  • srep16341-s1.pdf
View BVdb publication page