Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: FLCN: R239C

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.

Npj Breast Cancer

Matis, Thibaut S TS; Zayed, Nadia N; Labraki, Bouchra B; de Ladurantaye, Manon M; Matis, Théophane A TA; Camacho Valenzuela, José J; Hamel, Nancy N; Atayan, Adrienne A; Rivera, Barbara B; Tabach, Yuval Y; Tonin, Patricia N PN; Orthwein, Alexandre A; Mes-Masson, Anne-Marie AM; El Haffaf, Zaki Z; Foulkes, William D WD; Polak, Paz P

Publication Date: 2021-08-25

Variant appearance in text: FLCN: 715C>T; R239C

PubMed Link: 34433815

Variant Present in the following documents:

• Main text
• 41523_2021_Article_315.pdf

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Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.

Plos Genetics

Clausen, Lene L; Stein, Amelie A; Grønbæk-Thygesen, Martin M; Nygaard, Lasse L; Søltoft, Cecilie L CL; Nielsen, Sofie V SV; Lisby, Michael M; Ravid, Tommer T; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R

Publication Date: 2020-11

Variant appearance in text: FLCN: R239C

PubMed Link: 33137092

Variant Present in the following documents:

• Main text
• pgen.1009187.pdf

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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: FLCN: 715C>T; Arg239Cys; rs78683075

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

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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: FLCN: R239C

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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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: FLCN: 715C>T; Arg239Cys; rs78683075

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Bmc Medical Genetics

Hou, Xiaocan X; Zhou, Yuan Y; Peng, Yun Y; Qiu, Rong R; Xia, Kun K; Tang, Beisha B; Zhuang, Wei W; Jiang, Hong H

Publication Date: 2018-01-22

Variant appearance in text: BHD: 715C>T

PubMed Link: 29357828

Variant Present in the following documents:

• Main text
• 12881_2017_Article_519.pdf

View BVdb publication page

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The genomic landscape of pediatric myelodysplastic syndromes.

Nature Communications

Schwartz, Jason R JR; Ma, Jing J; Lamprecht, Tamara T; Walsh, Michael M; Wang, Shuoguo S; Bryant, Victoria V; Song, Guangchun G; Wu, Gang G; Easton, John J; Kesserwan, Chimene C; Nichols, Kim E KE; Mullighan, Charles G CG; Ribeiro, Raul C RC; Klco, Jeffery M JM

Publication Date: 2017-11-16

Variant appearance in text: FLCN: R239C; rs78683075

PubMed Link: 29146900

Variant Present in the following documents:

• 41467_2017_1590_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Gene

Schmidt, Laura S LS; Linehan, W Marston WM

Publication Date: 2018-01-15

Variant appearance in text: FLCN: Arg239Cys

PubMed Link: 28970150

Variant Present in the following documents:

• Main text

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: FLCN: 715C>T; Arg239Cys; rs78683075

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.

Biomed Research International

Liu, Lv L; Yang, Kai K; Wang, Xiang X; Shi, Zhihui Z; Yang, Yifeng Y; Yuan, Yu Y; Guo, Ting T; Xiao, Xiaocui X; Luo, Hong H

Publication Date: 2017

Variant appearance in text: FLCN: 715C>T

PubMed Link: 28785590

Variant Present in the following documents:

• Main text

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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: FLCN: 715C>T; Arg239Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: FLCN: R239C

PubMed Link: 28569218

Variant Present in the following documents:

• Main text
• 13058_2017_Article_854.pdf
• 13058_2017_854_MOESM2_ESM.xlsx, sheet 5

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: FLCN: R239C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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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: BHD: R239C; rs78683075

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Nature Reviews. Urology

Schmidt, Laura S LS; Linehan, W Marston WM

Publication Date: 2015-10

Variant appearance in text: FLCN: Arg239Cys

PubMed Link: 26334087

Variant Present in the following documents:

• Main text

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: FLCN: R239C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: FLCN: R239C; rs78683075

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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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: FLCN: R239C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: FLCN: 715C>T; Arg239Cys

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

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Birt-Hogg-Dube syndrome is a novel ciliopathy.

Human Molecular Genetics

Luijten, Monique N H MN; Basten, Sander G SG; Claessens, Tijs T; Vernooij, Marigje M; Scott, Claire L CL; Janssen, Renske R; Easton, Jennifer A JA; Kamps, Miriam A F MA; Vreeburg, Maaike M; Broers, Jos L V JL; van Geel, Michel M; Menko, Fred H FH; Harbottle, Richard P RP; Nookala, Ravi K RK; Tee, Andrew R AR; Land, Stephen C SC; Giles, Rachel H RH; Coull, Barry J BJ; van Steensel, Maurice A M MA

Publication Date: 2013-11-01

Variant appearance in text: BHD: Arg239Cys

PubMed Link: 23784378

Variant Present in the following documents:

• Main text

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Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

American Journal Of Human Genetics

Xue, Yali Y; Chen, Yuan Y; Ayub, Qasim Q; Huang, Ni N; Ball, Edward V EV; Mort, Matthew M; Phillips, Andrew D AD; Shaw, Katy K; Stenson, Peter D PD; Cooper, David N DN; Tyler-Smith, Chris C; ,

Publication Date: 2012-12-07

Variant appearance in text: FLCN: 715C>T; Arg239Cys

PubMed Link: 23217326

Variant Present in the following documents:

• Main text

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The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Human Mutation

Wei, Ming-Hui MH; Blake, Patrick W PW; Shevchenko, Julia J; Toro, Jorge R JR

Publication Date: 2009-09

Variant appearance in text: FLCN: 715C>T

PubMed Link: 19562744

Variant Present in the following documents:

• Main text

View BVdb publication page

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