Publications:

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Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature

Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C

Publication Date: 2023-04-13

Variant appearance in text: PRF1: T435M

PubMed Link: 37055640

Variant Present in the following documents:

• EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PRF1: T435M

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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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: PRF1: 1304C>T; Thr435Met

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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RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Pharmacogenomics And Personalized Medicine

Shi, Yuan Y; Qiao, Zhidong Z; Bi, Xiaoduo X; Zhang, Chenxin C; Fu, Junxian J; Jia, Yuexin Y; Yang, Guanglu G

Publication Date: 2021

Variant appearance in text: PRF1: 1304C>T; Thr435Met

PubMed Link: 34938098

Variant Present in the following documents:

• Main text
• pgpm-14-1637.pdf

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: PRF1: 1304C>T; Thr435Met

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

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Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.

World Journal Of Clinical Cases

Bi, Shao-Hua SH; Jiang, Liang-Liang LL; Dai, Li-Ying LY; Wang, Li-Li LL; Liu, Guang-Hui GH; Teng, Ru-Jeng RJ

Publication Date: 2021-07-26

Variant appearance in text: PRF1: 1304C>T; T435M

PubMed Link: 34368327

Variant Present in the following documents:

• Main text
• WJCC-9-6056.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PRF1: 1304C>T; T435M

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: PRF1: T435M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Blood Advances

Gadoury-Levesque, Vanessa V; Dong, Lei L; Su, Rui R; Chen, Jianjun J; Zhang, Kejian K; Risma, Kimberly A KA; Marsh, Rebecca A RA; Sun, Miao M

Publication Date: 2020-06-23

Variant appearance in text: PRF1: 1304C>T; Thr435Met

PubMed Link: 32542393

Variant Present in the following documents:

• Main text

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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: PRF1: 1304C>T

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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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: PRF1: 1304C>T; Thr435Met; rs28933376

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: PRF1: 1304C>T; T435M

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_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: PRF1: T435M; rs28933376

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.

International Journal Of Molecular Sciences

Willenbring, Robin C RC; Johnson, Aaron J AJ

Publication Date: 2017-07-25

Variant appearance in text: PRF1: T435M

PubMed Link: 28757574

Variant Present in the following documents:

• ijms-18-01608.pdf

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Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal

Leeksma, O C OC; de Miranda, N F NF; Veelken, H H

Publication Date: 2017-02-17

Variant appearance in text: PRF1: 1304C>T; T435M

PubMed Link: 28211887

Variant Present in the following documents:

• Main text

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Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.

Plos One

Wang, Yini Y; Wang, Zhao Z; Zhang, Jia J; Wei, Qing Q; Tang, Ran R; Qi, Junyuan J; Li, Lihong L; Ye, Liping L; Wang, Jijun J; Ye, Ling L

Publication Date: 2014

Variant appearance in text: PRF1: 1304C>T; T435M

PubMed Link: 25233452

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

Protein Science : A Publication Of The Protein Society

An, Omer O; Gursoy, Attila A; Gurgey, Aytemiz A; Keskin, Ozlem O

Publication Date: 2013-06

Variant appearance in text: PRF1: Thr435Met

PubMed Link: 23592409

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PRF1: 1304C>T; T435M; rs28933376

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.

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

Chia, Jenny J; Yeo, Kim Pin KP; Whisstock, James C JC; Dunstone, Michelle A MA; Trapani, Joseph A JA; Voskoboinik, Ilia I

Publication Date: 2009-06-16

Variant appearance in text: PRF1: T435M

PubMed Link: 19487666

Variant Present in the following documents:

• Main text

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Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.

Blood

Urrea Moreno, Ramon R; Gil, Juana J; Rodriguez-Sainz, Carmen C; Cela, Elena E; LaFay, Victor V; Oloizia, Brian B; Herr, Andrew B AB; Sumegi, Janos J; Jordan, Michael B MB; Risma, Kimberly A KA

Publication Date: 2009-01-08

Variant appearance in text: PRF1: T435M

PubMed Link: 18927437

Variant Present in the following documents:

• Main text

View BVdb publication page

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