Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRIP1: P47A

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer.

Research Square

Adamson, Aaron W AW; Ding, Yuan Chun YC; Steele, Linda L; Leong, Lucile A LA; Morgan, Robert R; Wakabayashi, Mark T MT; Han, Ernest S ES; Dellinger, Thanh H TH; Lin, Paul S PS; Hakim, Amy A AA; Wilczynski, Sharon S; Warden, Charles D CD; Tao, Shu S; Bedell, Victoria V; Cristea, Mihaela C MC; Neuhausen, Susan L SL

Publication Date: 2023-02-20

Variant appearance in text: BRIP1: P47A

PubMed Link: 36865331

Variant Present in the following documents:

• nihpp-rs2592107v1.pdf

View BVdb publication page

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EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.

Journal Of Extracellular Vesicles

Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV

Publication Date: 2022-10

Variant appearance in text: BRIP1: P47A

PubMed Link: 36271888

Variant Present in the following documents:

• JEV2-11-e12270-s002.xlsx, sheet 1

View BVdb publication page

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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Medeniyet Medical Journal

Arslan Ates, Esra E; Turkyilmaz, Ayberk A; Alavanda, Ceren C; Yildirim, Ozlem O; Guney, Ahmet Ilter AI

Publication Date: 2022-06-23

Variant appearance in text: BRIP1: 139C>G; Pro47Ala

PubMed Link: 35734982

Variant Present in the following documents:

• medj-37-150.pdf

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: BRIP1: 139C>G

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Cancers

Waldenmaier, Mareike M; Schulte, Lucas L; Schönfelder, Jonathan J; Fürstberger, Axel A; Kraus, Johann M JM; Daiss, Nora N; Seibold, Tanja T; Morawe, Mareen M; Ettrich, Thomas J TJ; Kestler, Hans A HA; Kahlert, Christoph C; Seufferlein, Thomas T; Eiseler, Tim T

Publication Date: 2022-02-21

Variant appearance in text: BRIP1: P47A

PubMed Link: 35205822

Variant Present in the following documents:

• cancers-14-01074.pdf

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: BRIP1: P47A; rs28903098

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.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: BRIP1: P47A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: BRIP1: 139C>G; Pro47Ala; rs28903098

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5

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: BRIP1: 139C>G; P47A; rs28903098

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 2

View BVdb publication page

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Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

International Journal Of Molecular Sciences

Zuntini, Roberta R; Bonora, Elena E; Pradella, Laura Maria LM; Amato, Laura Benedetta LB; Vidone, Michele M; De Fanti, Sara S; Catucci, Irene I; Cortesi, Laura L; Medici, Veronica V; Ferrari, Simona S; Gasparre, Giuseppe G; Peterlongo, Paolo P; Sazzini, Marco M; Turchetti, Daniela D

Publication Date: 2021-05-29

Variant appearance in text: BRIP1: 139C>G; Pro47Ala; rs28903098

PubMed Link: 34072463

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.

Molecular Cancer Research : Mcr

Calvo, Jennifer A JA; Fritchman, Briana B; Hernandez, Desiree D; Persky, Nicole S NS; Johannessen, Cory M CM; Piccioni, Federica F; Kelch, Brian A BA; Cantor, Sharon B SB

Publication Date: 2021-06

Variant appearance in text: FANCJ: P47A

PubMed Link: 33619228

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: BRIP1: 139C>G; P47A

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report.

Genes

Papez, Jan J; Starha, Jiri J; Zerhau, Pavel P; Pavlovska, Denisa D; Jezova, Marta M; Jurencak, Tomas T; Slaba, Katerina K; Sterba, Martin M; Kerekes, Arpad A; Merta, Tomas T; Haluskova, Terezia T; Palova, Hana H; Slaby, Ondrej O; Sterba, Jaroslav J; Jabandziev, Petr P

Publication Date: 2021-02-03

Variant appearance in text: BRIP1: 139C>G; P47A

PubMed Link: 33546375

Variant Present in the following documents:

• Main text
• genes-12-00220.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: BRIP1: P47A

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.

Cold Spring Harbor Molecular Case Studies

Kamal, Lara L; Pierce, Sarah B SB; Canavati, Christina C; Rayyan, Amal Abu AA; Jaraysa, Tamara T; Lobel, Orit O; Lolas, Suhair S; Norquist, Barbara M BM; Rabie, Grace G; Zahdeh, Fouad F; Levy-Lahad, Ephrat E; King, Mary-Claire MC; Kanaan, Moien N MN

Publication Date: 2020-10

Variant appearance in text: BRIP1: P47A

PubMed Link: 33028645

Variant Present in the following documents:

• Main text
• MCS005652Kam.pdf

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: BRIP1: P47A

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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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: BRIP1: 139C>G; P47A

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 7
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 8
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

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: BRIP1: P47A

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.

Cancer Research

Moyer, Cassandra L CL; Ivanovich, Jennifer J; Gillespie, Jessica L JL; Doberstein, Rachel R; Radke, Marc R MR; Richardson, Marcy E ME; Kaufmann, Scott H SH; Swisher, Elizabeth M EM; Goodfellow, Paul J PJ

Publication Date: 2020-02-15

Variant appearance in text: BRIP1: P47A

PubMed Link: 31822495

Variant Present in the following documents:

• Main text

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: BRIP1: P47A; rs28903098

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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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: BRIP1: 139C>G; Pro47Ala; rs28903098

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

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: BRIP1: P47A; rs28903098

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: BRIP1: 139C>G; Pro47Ala; rs28903098

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 4

View BVdb publication page

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Breast Cancer Research : Bcr

Weber-Lassalle, Nana N; Hauke, Jan J; Ramser, Juliane J; Richters, Lisa L; Groß, Eva E; Blümcke, Britta B; Gehrig, Andrea A; Kahlert, Anne-Karin AK; Müller, Clemens R CR; Hackmann, Karl K; Honisch, Ellen E; Weber-Lassalle, Konstantin K; Niederacher, Dieter D; Borde, Julika J; Thiele, Holger H; Ernst, Corinna C; Altmüller, Janine J; Neidhardt, Guido G; Nürnberg, Peter P; Klaschik, Kristina K; Schroeder, Christopher C; Platzer, Konrad K; Volk, Alexander E AE; Wang-Gohrke, Shan S; Just, Walter W; Auber, Bernd B; Kubisch, Christian C; Schmidt, Gunnar G; Horvath, Judit J; Wappenschmidt, Barbara B; Engel, Christoph C; Arnold, Norbert N; Dworniczak, Bernd B; Rhiem, Kerstin K; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2018-01-24

Variant appearance in text: BRIP1: 139C>G; Pro47Ala; rs28903098

PubMed Link: 29368626

Variant Present in the following documents:

• 13058_2018_935_MOESM1_ESM.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: BRIP1: 139C>G; P47A; rs28903098

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.

Nucleic Acids Research

Nath, Sarmi S; Somyajit, Kumar K; Mishra, Anup A; Scully, Ralph R; Nagaraju, Ganesh G

Publication Date: 2017-09-06

Variant appearance in text: FANCJ: P47A

PubMed Link: 28911102

Variant Present in the following documents:

• Main text
• gkx586.pdf
• gkx586_Supp.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: BRIP1: 139C>G; Pro47Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Leukemia

Guidugli, L L; Johnson, A K AK; Alkorta-Aranburu, G G; Nelakuditi, V V; Arndt, K K; Churpek, J E JE; Godley, L A LA; Townsley, D D; Young, N S NS; Fitzpatrick, C C; Del Gaudio, D D; Das, S S; Li, Z Z

Publication Date: 2017-05

Variant appearance in text: BRIP1: Pro47Ala

PubMed Link: 28104920

Variant Present in the following documents:

• leu201728a.pdf

View BVdb publication page

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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: BRIP1: 139C>G; Pro47Ala

PubMed Link: 27621404

Variant Present in the following documents:

• Main text
• JCO.2016.68.4316.pdf

View BVdb publication page

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Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: BRIP1: P47A

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, sheet 1

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: BRIP1: P47A

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: BRIP1: 139C>G; Pro47Ala

PubMed Link: 26681312

Variant Present in the following documents:

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: rs28903098

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis.

European Journal Of Human Genetics : Ejhg

Kinnersley, Ben B; Kamatani, Yoichiro Y; Labussière, Marianne M; Wang, Yufei Y; Galan, Pilar P; Mokhtari, Karima K; Delattre, Jean-Yves JY; Gousias, Konstantinos K; Schramm, Johannes J; Schoemaker, Minouk J MJ; Swerdlow, Anthony A; Fleming, Sarah J SJ; Herms, Stefan S; Heilmann, Stefanie S; Nöthen, Markus M MM; Simon, Matthias M; Sanson, Marc M; Lathrop, Mark M; Houlston, Richard S RS

Publication Date: 2016-05

Variant appearance in text: BRIP1: Pro47Ala; rs28903098

PubMed Link: 26264438

Variant Present in the following documents:

• Main text
• ejhg2015170a.pdf

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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: BRIP1: P47A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: rs28903098

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.

Frontiers In Genetics

Brosh, Robert M RM; Cantor, Sharon B SB

Publication Date: 2014

Variant appearance in text: FANCJ: P47A

PubMed Link: 25374583

Variant Present in the following documents:

• Main text
• fgene-05-00372.pdf

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: BRIP1: P47A

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1
• nihms551112.pdf
• NIHMS551112-supplement-15.xlsx, sheet 1
• NIHMS551112-supplement-14.xlsx, sheet 1
• NIHMS551112-supplement-12.xlsx, sheet 1

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FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

Plos Genetics

Xie, Jenny J; Peng, Min M; Guillemette, Shawna S; Quan, Steven S; Maniatis, Stephanie S; Wu, Yuliang Y; Venkatesh, Aditya A; Shaffer, Scott A SA; Brosh, Robert M RM; Cantor, Sharon B SB

Publication Date: 2012-07

Variant appearance in text: FANCJ: P47A

PubMed Link: 22792074

Variant Present in the following documents:

• Main text
• pgen.1002786.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BRIP1: P47A; rs28903098

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

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Inhibition of BACH1 (FANCJ) helicase by backbone discontinuity is overcome by increased motor ATPase or length of loading strand.

Nucleic Acids Research

Gupta, Rigu R; Sharma, Sudha S; Doherty, Kevin M KM; Sommers, Joshua A JA; Cantor, Sharon B SB; Brosh, Robert M RM

Publication Date: 2006

Variant appearance in text: FANCJ: P47A

PubMed Link: 17145708

Variant Present in the following documents:

• Main text
• gkl964.pdf

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BACH1 Ser919Pro variant and breast cancer risk.

Bmc Cancer

Vahteristo, Pia P; Yliannala, Kristiina K; Tamminen, Anitta A; Eerola, Hannaleena H; Blomqvist, Carl C; Nevanlinna, Heli H

Publication Date: 2006-01-24

Variant appearance in text: BRIP1: Pro47Ala

PubMed Link: 16430786

Variant Present in the following documents:

• 1471-2407-6-19.pdf

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Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

Breast Cancer Research : Bcr

Lewis, Aaron G AG; Flanagan, James J; Marsh, Anna A; Pupo, Gulietta M GM; Mann, Graham G; Spurdle, Amanda B AB; Lindeman, Geoffrey J GJ; Visvader, Jane E JE; Brown, Melissa A MA; Chenevix-Trench, Georgia G; ,

Publication Date: 2005

Variant appearance in text: BRIP1: P47A

PubMed Link: 16280053

Variant Present in the following documents:

• bcr1336.pdf

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