Publications:

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Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.

Genes

Garutti, Mattia M; Foffano, Lorenzo L; Mazzeo, Roberta R; Michelotti, Anna A; Da Ros, Lucia L; Viel, Alessandra A; Miolo, Gianmaria G; Zambelli, Alberto A; Puglisi, Fabio F

Publication Date: 2023-04-30

Variant appearance in text: CHEK2: R95*

PubMed Link: 37239385

Variant Present in the following documents:

• genes-14-01025.pdf

View BVdb publication page

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CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience.

Cancers

Abdelghani, Eman E; Schieffer, Kathleen M KM; Cottrell, Catherine E CE; Audino, Anthony A; Zajo, Kristin K; Shah, Nilay N

Publication Date: 2023-03-08

Variant appearance in text: CHEK2: 283C>T; Arg95Ter

PubMed Link: 36980535

Variant Present in the following documents:

• Main text
• cancers-15-01649.pdf

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: CHEK2: R95X

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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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: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Nature Communications

Madariaga, Ainhoa A; Garg, Swati S; Tchrakian, Nairi N; Dhani, Neesha C NC; Jimenez, Waldo W; Welch, Stephen S; MacKay, Helen H; Ethier, Josee-Lyne JL; Gilbert, Lucy L; Li, Xuan X; Rodriguez, Angela A; Chan, Lucy L; Bowering, Valerie V; Clarke, Blaise B; Zhang, Tong T; King, Ian I; Downs, Gregory G; Stockley, Tracy T; Wang, Lisa L; Udagani, Smitha S; Oza, Amit M AM; Lheureux, Stephanie S

Publication Date: 2023-03-15

Variant appearance in text: CHEK2: 283C>T; R95*

PubMed Link: 36922497

Variant Present in the following documents:

• 41467_2023_37084_MOESM1_ESM.pdf

View BVdb publication page

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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: CHEK2: 283C>T; Arg95Ter

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: CHEK2: R95X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.

Frontiers In Oncology

van der Merwe, Nerina C NC; Ntaita, Kholiwe S KS; Stofberg, Hanri H; Combrink, Herkulaas MvE HM; Oosthuizen, Jaco J; Kotze, Maritha J MJ

Publication Date: 2022

Variant appearance in text: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 36568162

Variant Present in the following documents:

• Main text
• fonc-12-938561.pdf

View BVdb publication page

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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: 283C>T; Arg95*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: CHEK2: 283C>T; R95*

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Hereditary Cancer In Clinical Practice

Akbar, Fizza F; Siddiqui, Zahraa Z; Waheed, Muhammad Talha MT; Ehsan, Lubaina L; Ali, Syed Ibaad SI; Wiquar, Hajra H; Valimohammed, Azmina Tajuddin AT; Khan, Shaista S; Vohra, Lubna L; Zeeshan, Sana S; Rashid, Yasmin Y; Moosajee, Munira M; Jabbar, Adnan Abdul AA; Zahir, Muhammad Nauman MN; Zahid, Naila N; Soomro, Rufina R; Ullah, Najeeb Niamat NN; Ahmad, Imran I; Haider, Ghulam G; Ansari, Uzair U; Rizvi, Arjumand A; Mehboobali, Arif A; Sattar, Abida A; Kirmani, Salman S

Publication Date: 2022-06-16

Variant appearance in text: CHEK2: Arg95*

PubMed Link: 35710434

Variant Present in the following documents:

• Main text
• 13053_2022_Article_232.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS3.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1

View BVdb publication page

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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: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 35493704

Variant Present in the following documents:

• mmc2.xlsx, sheet 7

View BVdb publication page

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Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Bmc Medicine

Ho, Peh Joo PJ; Ho, Weang Kee WK; Khng, Alexis J AJ; Yeoh, Yen Shing YS; Tan, Benita Kiat-Tee BK; Tan, Ern Yu EY; Lim, Geok Hoon GH; Tan, Su-Ming SM; Tan, Veronique Kiak Mien VKM; Yip, Cheng-Har CH; Mohd-Taib, Nur-Aishah NA; Wong, Fuh Yong FY; Lim, Elaine Hsuen EH; Ngeow, Joanne J; Chay, Wen Yee WY; Leong, Lester Chee Hao LCH; Yong, Wei Sean WS; Seah, Chin Mui CM; Tang, Siau Wei SW; Ng, Celene Wei Qi CWQ; Yan, Zhiyan Z; Lee, Jung Ah JA; Rahmat, Kartini K; Islam, Tania T; Hassan, Tiara T; Tai, Mei-Chee MC; Khor, Chiea Chuen CC; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Sim, Xueling X; Dunning, Alison M AM; Bolla, Manjeet K MK; Antoniou, Antonis C AC; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2022-04-26

Variant appearance in text: CHEK2: 283C>T; Arg95Ter

PubMed Link: 35468796

Variant Present in the following documents:

• 12916_2022_2334_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: CHEK2: 283C>T; R95*

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: CHEK2: R95*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

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Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_Article_4791.pdf
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: CHEK2: 283C>T; Arg95Ter; rs587781269

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_Article_4791.pdf
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1

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: CHEK2: 283C>T; Arg95Ter

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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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: 283C>T; R95*

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: CHEK2: R95X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2022-02

Variant appearance in text: CHEK2: 283C>T; Arg95*

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

View BVdb publication page

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2021-03-23

Variant appearance in text: CHEK2: 283C>T; Arg95*

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: CHEK2: 283C>T; Arg95*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2
• jamaoncol-e207987-s006.xlsx, sheet 2

View BVdb publication page

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Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Npj Breast Cancer

Walsh, Tom T; Gulsuner, Suleyman S; Lee, Ming K MK; Troester, Melissa A MA; Olshan, Andrew F AF; Earp, H Shelton HS; Perou, Charles M CM; King, Mary-Claire MC

Publication Date: 2021-01-21

Variant appearance in text: CHEK2: 283C>T; R95X

PubMed Link: 33479248

Variant Present in the following documents:

• 41523_2020_214_MOESM1_ESM.pdf

View BVdb publication page

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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: 283C>T; R95*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: CHEK2: 283C>T; R95*

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.

Translational Lung Cancer Research

Liu, Mengyuan M; Liu, Xinyi X; Suo, Peisu P; Gong, Yuan Y; Qu, Baolin B; Peng, Xiumei X; Xiao, Wenhua W; Li, Yuemin Y; Chen, Yan Y; Zeng, Zhen Z; Lu, Yinying Y; Huang, Tanxiao T; Zhao, Yingshen Y; Liu, Ming M; Li, Lifeng L; Chen, Yaru Y; Zhou, Yanqing Y; Liu, Guifeng G; Yao, Jianfei J; Chen, Shifu S; Song, Lele L

Publication Date: 2020-06

Variant appearance in text: CHEK2: R95X

PubMed Link: 32676327

Variant Present in the following documents:

• Main text
• tlcr-09-03-646.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CHEK2: R95*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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FGFR aberrations increase the risk of brain metastases and predict poor prognosis in metastatic breast cancer patients.

Therapeutic Advances In Medical Oncology

Xie, Ning N; Tian, Can C; Wu, Hui H; Yang, Xiaohong X; Liu, Liping L; Li, Jing J; Xiao, Huawu H; Gao, Jianxiang J; Lu, Jun J; Hu, Xuming X; Cao, Min M; Shui, Zhengrong Z; Tang, Yu Y; Wang, Xiao X; Yang, Jianbo J; Hu, Zhe-Yu ZY; Ouyang, Quchang Q

Publication Date: 2020

Variant appearance in text: CHEK2: R95*

PubMed Link: 32499836

Variant Present in the following documents:

• Table_S5-brain.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CHEK2: 283C>T; R95C

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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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: R95*

PubMed Link: 32091409

Variant Present in the following documents:

• Main text
• aging-12-102783.pdf

View BVdb publication page

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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: 283C>T; R95*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: CHEK2: R95X

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: CHEK2: Arg95*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.

International Journal Of Oncology

Lang, Shona H SH; Swift, Stephanie L SL; White, Heath H; Misso, Kate K; Kleijnen, Jos J; Quek, Ruben G W RGW

Publication Date: 2019-09

Variant appearance in text: CHEK2: R95*

PubMed Link: 31322208

Variant Present in the following documents:

• Supplementary_Data.pdf

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Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: CHEK2: Arg95Ter

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-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: CHEK2: 283C>T; Arg95*; rs587781269

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM1_ESM.pdf
• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.

British Journal Of Cancer

Mijuskovic, Martina M; Saunders, Edward J EJ; Leongamornlert, Daniel A DA; Wakerell, Sarah S; Whitmore, Ian I; Dadaev, Tokhir T; Cieza-Borrella, Clara C; Govindasami, Koveela K; Brook, Mark N MN; Haiman, Christopher A CA; Conti, David V DV; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z

Publication Date: 2018-07

Variant appearance in text: CHEK2: R95*; rs587781269

PubMed Link: 29915322

Variant Present in the following documents:

• Main text
• 41416_2018_Article_141.pdf

View BVdb publication page

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Gene aberration profile of tumors of adolescent and young adult females.

Oncotarget

Kanke, Yasuyuki Y; Shimomura, Akihiko A; Saito, Motonobu M; Honda, Takayuki T; Shiraishi, Kouya K; Shimada, Yoko Y; Watanabe, Reiko R; Yoshida, Hiroshi H; Yoshida, Masayuki M; Shimizu, Chikako C; Takahashi, Kazuaki K; Totsuka, Hirohiko H; Ogiwara, Hideaki H; Hirose, Sou S; Kono, Koji K; Tamura, Kenji K; Okamoto, Aikou A; Kinoshita, Takayuki T; Kato, Tomoyasu T; Kohno, Takashi T

Publication Date: 2018-01-19

Variant appearance in text: CHEK2: R95X

PubMed Link: 29464067

Variant Present in the following documents:

• oncotarget-09-6228-s001.pdf

View BVdb publication page

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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD

Publication Date: 2017-11-07

Variant appearance in text: CHEK2: R95*; rs587781269

PubMed Link: 29212164

Variant Present in the following documents:

• oncotarget-08-93450-s003.xlsx, sheet 1
• oncotarget-08-93450.pdf
• oncotarget-08-93450-s002.xlsx, sheet 1

View BVdb publication page

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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: 283C>T; Arg95*

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 1

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: rs587781269

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

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: CHEK2: 283C>T; Arg95Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: CHEK2: 283C>T; R95*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Prevalence of the CHEK2 R95* germline mutation.

Hereditary Cancer In Clinical Practice

Knappskog, Stian S; Leirvaag, Beryl B; Gansmo, Liv B LB; Romundstad, Pål P; Hveem, Kristian K; Vatten, Lars L; Lønning, Per E PE

Publication Date: 2016

Variant appearance in text: CHEK2: R95*; rs587781269

PubMed Link: 27708748

Variant Present in the following documents:

• Main text
• 13053_2016_Article_59.pdf

View BVdb publication page

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Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics

Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV

Publication Date: 2016-06

Variant appearance in text: CHEK2: 283C>T

PubMed Link: 26787654

Variant Present in the following documents:

• jmedgenet-2015-103398-s2.pdf

View BVdb publication page

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Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.

Cell Cycle (Georgetown, Tex.)

Ow, Ghim Siong GS; Ivshina, Anna V AV; Fuentes, Gloria G; Kuznetsov, Vladimir A VA

Publication Date: 2014

Variant appearance in text: CHEK2: Arg95Ter

PubMed Link: 24879340

Variant Present in the following documents:

• Main text
• cc-13-2262.pdf

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: CHEK2: R95X

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

View BVdb publication page

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Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

Clinical Genetics

Cragun, D D; Radford, C C; Dolinsky, J S JS; Caldwell, M M; Chao, E E; Pal, T T

Publication Date: 2014-12

Variant appearance in text: CHEK2: R95X

PubMed Link: 24506336

Variant Present in the following documents:

View BVdb publication page

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CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Plos One

Chrisanthar, Ranjan R; Knappskog, Stian S; Løkkevik, Erik E; Anker, Gun G; Østenstad, Bjørn B; Lundgren, Steinar S; Berge, Elisabet O EO; Risberg, Terje T; Mjaaland, Ingvil I; Maehle, Lovise L; Engebretsen, Lars Fredrik LF; Lillehaug, Johan Richard JR; Lønning, Per Eystein PE

Publication Date: 2008-08-26

Variant appearance in text: CHEK2: Arg95Ter

PubMed Link: 18725978

Variant Present in the following documents:

• Main text
• pone.0003062.pdf

View BVdb publication page

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