Publications:

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Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.

Nature Communications

Yu, Jina J; Yan, Chunli C; Dodd, Thomas T; Tsai, Chi-Lin CL; Tainer, John A JA; Tsutakawa, Susan E SE; Ivanov, Ivaylo I

Publication Date: 2023-05-13

Variant appearance in text: XPD: L461V

PubMed Link: 37179334

Variant Present in the following documents:

• Main text
• 41467_2023_Article_38416.pdf
• 41467_2023_38416_MOESM4_ESM.xlsx, sheet 1
• 41467_2023_38416_MOESM3_ESM.pdf

View BVdb publication page

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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: ERCC2: L461V; rs121913016

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: ERCC2: L461V

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

View BVdb publication page

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Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.

Nature Communications

Kohaar, Indu I; Zhang, Xijun X; Tan, Shyh-Han SH; Nousome, Darryl D; Babcock, Kevin K; Ravindranath, Lakshmi L; Sukumar, Gauthaman G; Mcgrath-Martinez, Elisa E; Rosenberger, John J; Alba, Camille C; Ali, Amina A; Young, Denise D; Chen, Yongmei Y; Cullen, Jennifer J; Rosner, Inger L IL; Sesterhenn, Isabell A IA; Dobi, Albert A; Chesnut, Gregory G; Turner, Clesson C; Dalgard, Clifton C; Wilkerson, Matthew D MD; Pollard, Harvey B HB; Srivastava, Shiv S; Petrovics, Gyorgy G

Publication Date: 2022-03-15

Variant appearance in text: ERCC2: L461V

PubMed Link: 35292633

Variant Present in the following documents:

• 41467_2022_28945_MOESM6_ESM.xls, sheet 1

View BVdb publication page

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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: ERCC2: L461V; rs121913016

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: ERCC2: 1381C>G; Leu461Val

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: ERCC2: L461V

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports

Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH

Publication Date: 2021-09-20

Variant appearance in text: ERCC2: L461V

PubMed Link: 34545149

Variant Present in the following documents:

• 41598_2021_98084_MOESM2_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: ERCC2: 1381C>G; L461V; rs121913016

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.

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

Lombardi, Anita A; Arseni, Lavinia L; Carriero, Roberta R; Compe, Emmanuel E; Botta, Elena E; Ferri, Debora D; Uggè, Martina M; Biamonti, Giuseppe G; Peverali, Fiorenzo A FA; Bione, Silvia S; Orioli, Donata D

Publication Date: 2021-06-29

Variant appearance in text: XPD: Leu461Val

PubMed Link: 34155103

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.

Jco Precision Oncology

Kim, Jung J; Light, Nicholas N; Subasri, Vallijah V; Young, Erin L EL; Wegman-Ostrosky, Talia T; Barkauskas, Donald A DA; Hall, David D; Lupo, Philip J PJ; Patidar, Rajesh R; Maese, Luke D LD; Jones, Kristine K; Wang, Mingyi M; Tavtigian, Sean V SV; Wu, Dongjing D; Shlien, Adam A; Telfer, Frank F; Goldenberg, Anna A; Skapek, Stephen X SX; Wei, Jun S JS; Wen, Xinyu X; Catchpoole, Daniel D; Hawkins, Douglas S DS; Schiffman, Joshua D JD; Khan, Javed J; Malkin, David D; Stewart, Douglas R DR

Publication Date: 2021

Variant appearance in text: ERCC2: L461V

PubMed Link: 34095712

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: ERCC2: 1381C>G; Leu461Val

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine

Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA

Publication Date: 2020-04

Variant appearance in text: ERCC2: Leu461Val; rs121913016

PubMed Link: 32268276

Variant Present in the following documents:

• mmc5.xlsx, sheet 5

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: ERCC2: L461V

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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: ERCC2: 1381C>G; Leu461Val

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: ERCC2: 1381C>G

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: ERCC2: 1381C>G; rs121913016

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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: ERCC2: Leu461Val

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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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: ERCC2: L461V; rs121913016

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1

View BVdb publication page

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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: ERCC2: 1381C>G; Leu461Val; rs121913016

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.

Nature Structural & Molecular Biology

Yan, Chunli C; Dodd, Thomas T; He, Yuan Y; Tainer, John A JA; Tsutakawa, Susan E SE; Ivanov, Ivaylo I

Publication Date: 2019-06

Variant appearance in text: XPD: L461V

PubMed Link: 31110295

Variant Present in the following documents:

• NIHMS1525853-supplement-3.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ERCC2: L461V; rs121913016

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Jama Dermatology

Pugh, Jennifer J; Khan, Sikandar G SG; Tamura, Deborah D; Goldstein, Alisa M AM; Landi, Maria Teresa MT; DiGiovanna, John J JJ; Kraemer, Kenneth H KH

Publication Date: 2019-01-01

Variant appearance in text: ERCC2: L461V

PubMed Link: 30516811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Oncogene

Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN

Publication Date: 2019-03

Variant appearance in text: rs121913016

PubMed Link: 30348992

Variant Present in the following documents:

• 41388_2018_536_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: ERCC2: L461V

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: ERCC2: L461V; rs121913016

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Plos Genetics

Rump, Andreas A; Benet-Pages, Anna A; Schubert, Steffen S; Kuhlmann, Jan Dominik JD; Janavičius, Ramūnas R; Macháčková, Eva E; Foretová, Lenka L; Kleibl, Zdenek Z; Lhota, Filip F; Zemankova, Petra P; Betcheva-Krajcir, Elitza E; Mackenroth, Luisa L; Hackmann, Karl K; Lehmann, Janin J; Nissen, Anke A; DiDonato, Nataliya N; Opitz, Romy R; Thiele, Holger H; Kast, Karin K; Wimberger, Pauline P; Holinski-Feder, Elke E; Emmert, Steffen S; Schröck, Evelin E; Klink, Barbara B

Publication Date: 2016-08

Variant appearance in text: ERCC2: 1381C>G; rs121913016

PubMed Link: 27504877

Variant Present in the following documents:

• Main text
• pgen.1006248.pdf

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ERCC2: L461V

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

Familial Cancer

Dobbins, Sara E SE; Broderick, Peter P; Chubb, Daniel D; Kinnersley, Ben B; Sherborne, Amy L AL; Houlston, Richard S RS

Publication Date: 2016-10

Variant appearance in text: ERCC2: 1381C>G; Leu461Val

PubMed Link: 27356891

Variant Present in the following documents:

• Main text
• 10689_2016_Article_9914.pdf

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: ERCC2: L461V

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

View BVdb publication page

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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: XPD: L461V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ERCC2: L461V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs121913016

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

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

Vona, Barbara B; Müller, Tobias T; Nanda, Indrajit I; Neuner, Cordula C; Hofrichter, Michaela A H MA; Schröder, Jörg J; Bartsch, Oliver O; Läßig, Anne A; Keilmann, Annerose A; Schraven, Sebastian S; Kraus, Fabian F; Shehata-Dieler, Wafaa W; Haaf, Thomas T

Publication Date: 2014-12

Variant appearance in text: rs121913016

PubMed Link: 24875298

Variant Present in the following documents:

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: ERCC2: L461V; rs121913016

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: ERCC2: 1381C>G; L461V; rs121913016

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 2
• NIHMS474900-supplement-8.xlsx, sheet 1

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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

European Journal Of Human Genetics : Ejhg

Zhou, Xiaolong X; Khan, Sikandar G SG; Tamura, Deborah D; Ueda, Takahiro T; Boyle, Jennifer J; Compe, Emmanuel E; Egly, Jean-Marc JM; DiGiovanna, John J JJ; Kraemer, Kenneth H KH

Publication Date: 2013-08

Variant appearance in text: XPD: 1381C>G

PubMed Link: 23232694

Variant Present in the following documents:

• Main text

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Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.

European Journal Of Human Genetics : Ejhg

Moslehi, Roxana R; Kumar, Anil A; Mills, James L JL; Ambroggio, Xavier X; Signore, Caroline C; Dzutsev, Amiran A

Publication Date: 2012-06

Variant appearance in text: XPD: L461V

PubMed Link: 22234153

Variant Present in the following documents:

• Main text

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Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Human Mutation

Boyle, Jennifer J; Ueda, Takahiro T; Oh, Kyu-Seon KS; Imoto, Kyoko K; Tamura, Deborah D; Jagdeo, Jared J; Khan, Sikandar G SG; Nadem, Carine C; Digiovanna, John J JJ; Kraemer, Kenneth H KH

Publication Date: 2008-10

Variant appearance in text: XPD: L461V

PubMed Link: 18470933

Variant Present in the following documents:

• Main text

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

Plos Biology

Andressoo, Jaan-Olle JO; Jans, Judith J; de Wit, Jan J; Coin, Frederic F; Hoogstraten, Deborah D; van de Ven, Marieke M; Toussaint, Wendy W; Huijmans, Jan J; Thio, H Bing HB; van Leeuwen, Wibeke J WJ; de Boer, Jan J; Egly, Jean-Marc JM; Hoeijmakers, Jan H J JH; van der Horst, Gijsbertus T J GT; Mitchell, James R JR

Publication Date: 2006-10

Variant appearance in text: XPD: L461V

PubMed Link: 17020410

Variant Present in the following documents:

• Main text

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Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.

Molecular And Cellular Biology

Theron, Therina T; Fousteri, Maria I MI; Volker, Marcel M; Harries, Lorna W LW; Botta, Elena E; Stefanini, Miria M; Fujimoto, Mitsuo M; Andressoo, Jaan-Olle JO; Mitchell, Jay J; Jaspers, Nicolaas G J NG; McDaniel, Lisa D LD; Mullenders, Leon H LH; Lehmann, Alan R AR

Publication Date: 2005-09

Variant appearance in text: XPD: L461V

PubMed Link: 16135823

Variant Present in the following documents:

• Main text

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Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK.

Genes & Development

Araújo, S J SJ; Tirode, F F; Coin, F F; Pospiech, H H; Syväoja, J E JE; Stucki, M M; Hübscher, U U; Egly, J M JM; Wood, R D RD

Publication Date: 2000-02-01

Variant appearance in text: XPD: L461V

PubMed Link: 10673506

Variant Present in the following documents:

• Main text

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