My Bibliography

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Fortuno C, Frone MN, Mester J, de la Hoya M, Mai PL, Pesaran T, Achatz MI, Bassett R, Bustamante C, Crowley S, de Andrade KC, Evans DG, Feng B, Fuqua L, Harrell MI, Hatton JN, Huether R, Kesserwan C, Lee K, MacFarland SP, Maciaszek JL, Maxwell K, McGoldrick K, Murphy M, Nehoray B, Penkert J, Pinto EM, Plon SE, Schwartz-Levine A, Thompson AS, Wang W, Zambetti GP, Zelley K, James PA, Savage SA, Kratz CP, Spurdle AB. A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome. Genome Med. 2025 Oct 22;17(1):128. doi: 10.1186/s13073-025-01536-3. Review. PubMed PMID: 41126324; PubMed Central PMCID: PMC12548217.

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Feng BJ, Kohlmann W, Nix DA, Atkinson A, Boucher KM, Carroll C, Stubben CJ, Kolesar J, Singer EA, Riedlinger G, Edge S, Sahu KK, Churchman M, Graham L, Salhia B, Sanchez A, Zakharia Y, Schneider BP, Jain R, Byrne L, Moskaluk CA, Nepple K, Shabsigh A, Chahoud J, Cairns BR, Gupta S. Germline whole-exome sequencing reveals FOXP3-related gene variants conferring urinary cancer susceptibility and associated with immune escape. J Immunother Cancer. 2025 Sep 16;13(9). doi: 10.1136/jitc-2024-010417. PubMed PMID: 40962358; PubMed Central PMCID: PMC12443205.

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Jiang A, Huntsman A, Becker C, Feng BJ, Marks K, Donigan J, Duffy KL, Frigerio A, Grossman D, Neklason DW, Judson-Torres RL, Deacon DC. Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population. Cancer Res Commun. 2025 Jul 1;5(7):1228-1234. doi: 10.1158/2767-9764.CRC-25-0263. PubMed PMID: 40673485; PubMed Central PMCID: PMC12301710.

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Rotenberg N, Fortuno C, Varga MJ, Chamberlin AC, Ramadane-Morchadi L, Feng BJ, de la Hoya M, Richardson ME, Spurdle AB. Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants. Am J Hum Genet. 2025 May 1;112(5):1003-1014. doi: 10.1016/j.ajhg.2025.01.012. Epub 2025 Apr 14. PubMed PMID: 40233742; PubMed Central PMCID: PMC12120181.

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Young B, Neklason DW, Clark K, Feng BJ, Keener MB, Tuohy TM, Wood A, McKinnon WC, Greenblatt MS, Tavtigian SV. Functional Characterization of a Genetic Variant in the 5' UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family. Am J Med Genet A. 2025 Jul;197(7):e63992. doi: 10.1002/ajmg.a.63992. Epub 2025 Mar 10. PubMed PMID: 40062631.

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Yu Y, Feng B, Chang CP, Bell R, Wood A, Sturgis E, Li G, Olshan A, Chen CJ, Lou PJ, Hsu WL, Cessna M, Witt B, Neklason D, Hashibe M, Huff C, Tavtigian S. Exome Sequencing for Head and Neck Cancer Predisposition Genes. medRxiv. 2025 Jan 22;. doi: 10.1101/2025.01.20.25320626. PubMed PMID: 39973998; PubMed Central PMCID: PMC11838995.

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Feng BJ, Boyle JL, Wei J, Carroll C, Snyder NA, Shi Z, Zheng SL, Xu J, Isaacs WB, Cooney KA. Using gene and gene-set association tests to identify lethal prostate cancer genes. Prostate Cancer Prostatic Dis. 2025 Jun;28(2):490-495. doi: 10.1038/s41391-024-00879-z. Epub 2024 Aug 17. PubMed PMID: 39154125.

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Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. PubMed PMID: 39142283; PubMed Central PMCID: PMC11393667.

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Innella G, Fortuno C, Caleca L, Feng BJ, Carroll C, Parsons MT, Miccoli S, Montagna M, Calistri D, Cortesi L, Pasini B, Manoukian S, Giachino D, Matricardi L, Foti MC, Zampiga V, Piombino C, Barbieri E, Lutati FV, Azzolini J, Danesi R, Arcangeli V, Caputo SM, Boutry-Kryza N, Goussot V, Hiraki S, Richardson M, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Ferrari S, Radice P, Spurdle AB, Turchetti D. Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management. Cancer Med. 2024 Aug;13(16):e70114. doi: 10.1002/cam4.70114. PubMed PMID: 39194334; PubMed Central PMCID: PMC11350839.

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Kohlmann W, Nix DA, Pauley K, Greenberg S, Atkinson A, Boucher KM, Kolesar J, Singer EA, Edge SB, Churchman ML, Graham L, Salhia B, Sanchez A, Zakharia Y, Nepple KG, Schneider BP, Byrne L, Jain RK, Chahoud J, Feng BJ, Gupta S. Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics. JCO Precis Oncol. 2024 Jun;8:e2300697. doi: 10.1200/PO.23.00697. PubMed PMID: 38976819; PubMed Central PMCID: PMC11813167.

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Carroll C, Adalsteinsson JA, Prouty M, Duffin KC, Krueger GG, Walsh JA, Feng BJ. Measuring Psoriasis Severity at Home. J Vis Exp. 2024 Mar 1;(205). doi: 10.3791/66065. PubMed PMID: 38497631.

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Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D, kConFab Investigators, James PA, Spurdle AB. Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. PubMed PMID: 38412388; PubMed Central PMCID: PMC10914239.

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Walsh JA, Carroll C, Callis Duffin K, Wang J, Krueger GG, Feng BJ. PAPRIKA: A Question Bank for Assessing Psoriatic Arthritis Risk in Individuals of Diverse Ancestries. Arthritis Care Res (Hoboken). 2024 Mar;76(3):421-425. doi: 10.1002/acr.25232. Epub 2024 Jan 20. PubMed PMID: 37691268.

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Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Bojesen SE, Bolla MK, Brenner H, Brown MA, Buys SS, Canzian F, Caputo SM, Castelao JE, Chang-Claude J, GC-HBOC study Collaborators, Czene K, Daly MB, De Nicolo A, Devilee P, Dörk T, Dunning AM, Dwek M, Eccles DM, Engel C, Evans DG, Fasching PA, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Gentry-Maharaj A, Geurts-Giele WRR, Giles GG, Glendon G, Goldberg MS, Garcia EBG, Güendert M, Guénel P, Hahnen E, Haiman CA, Hall P, Hamann U, Harkness EF, Hogervorst FBL, Hollestelle A, Hoppe R, Hopper JL, Houdayer C, Houlston RS, Howell A, ABCTB Investigators, Jakimovska M, Jakubowska A, Jernström H, John EM, Kaaks R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Lacey JV, Lambrechts D, Léoné M, Lindblom A, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Menon U, Milne RL, Monteiro AN, Murphy RA, Neuhausen SL, Nevanlinna H, Newman WG, Offit K, Park SK, James P, Peterlongo P, Peto J, Plaseska-Karanfilska D, Punie K, Radice P, Rashid MU, Rennert G, Romero A, Rosenberg EH, Saloustros E, Sandler DP, Schmidt MK, Schmutzler RK, Shu XO, Simard J, Southey MC, Stone J, Stoppa-Lyonnet D, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Terry MB, Thomassen M, Troester MA, Vachon CM, Vega A, Vreeswijk MPG, Wang Q, Wappenschmidt B, Weinberg CR, Wolk A, Zheng W, Feng B, Couch FJ, Spurdle AB, Easton DF, Goldgar DE, Michailidou K. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2. Hum Mutat. 2023;2023. doi: 10.1155/2023/9961341. Epub 2023 Sep 14. PubMed PMID: 38725546; PubMed Central PMCID: PMC11080979.

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Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE, ClinGen Sequence Variant Interpretation Working Group. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. PubMed PMID: 36413997; PubMed Central PMCID: PMC9748256.

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Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, ENIGMA Consortium, Vreeswijk MPG, de la Hoya M, Spurdle AB. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23. PubMed PMID: 35979650; PubMed Central PMCID: PMC10946542.

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Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J. Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel). 2022 Jul 11;14(14). doi: 10.3390/cancers14143363. PubMed PMID: 35884425; PubMed Central PMCID: PMC9317824.

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Belman S, Walsh JA, Carroll C, Milliken M, Haaland B, Duffin KC, Krueger GG, Feng BJ. Psoriasis Characteristics for the Early Detection of Psoriatic Arthritis. J Rheumatol. 2021 Oct;48(10):1559-1565. doi: 10.3899/jrheum.201123. Epub 2021 Apr 15. PubMed PMID: 33858978; PubMed Central PMCID: PMC8487898.

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Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA, ClinGen TP53 Variant Curation Expert Panel. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. PubMed PMID: 33300245; PubMed Central PMCID: PMC8374922.

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Belman S, Parsons MT, Spurdle AB, Goldgar DE, Feng BJ. Considerations in assessing germline variant pathogenicity using cosegregation analysis. Genet Med. 2020 Dec;22(12):2052-2059. doi: 10.1038/s41436-020-0920-4. Epub 2020 Aug 10. PubMed PMID: 32773770.

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Boyle JL, Hahn AW, Kapron AL, Kohlmann W, Greenberg SE, Parnell TJ, Teerlink CC, Maughan BL, Feng BJ, Cannon-Albright L, Agarwal N, Cooney KA. Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer. JCO Precis Oncol. 2020;4. doi: 10.1200/PO.19.00284. eCollection 2020. PubMed PMID: 32923906; PubMed Central PMCID: PMC7446531.

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Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106. PubMed PMID: 30099541; PubMed Central PMCID: PMC6093350.

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Wu Y, Yu H, Zheng SL, Feng B, Kapron AL, Na R, Boyle JL, Shah S, Shi Z, Ewing CM, Wiley KE, Luo J, Walsh PC, Carter HB, Helfand BT, Cooney KA, Xu J, Isaacs WB. Germline mutations in PPFIBP2 are associated with lethal prostate cancer. Prostate. 2018 Dec;78(16):1222-1228. doi: 10.1002/pros.23697. Epub 2018 Jul 24. PubMed PMID: 30043417.

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Hart SN, Hoskin T, Shimelis H, Moore RM, Feng B, Thomas A, Lindor NM, Polley EC, Goldgar DE, Iversen E, Monteiro ANA, Suman VJ, Couch FJ. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. Genet Med. 2019 Jan;21(1):71-80. doi: 10.1038/s41436-018-0018-4. Epub 2018 Jun 8. PubMed PMID: 29884841; PubMed Central PMCID: PMC6287763.

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Fortuno C, James PA, Young EL, Feng B, Olivier M, Pesaran T, Tavtigian SV, Spurdle AB. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Hum Mutat. 2018 Aug;39(8):1061-1069. doi: 10.1002/humu.23553. Epub 2018 Jun 5. PubMed PMID: 29775997; PubMed Central PMCID: PMC6043381.

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Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424. PubMed PMID: 28418444; PubMed Central PMCID: PMC5599323.

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Lanikova L, Reading NS, Hu H, Tashi T, Burjanivova T, Shestakova A, Siwakoti B, Thakur BK, Pun CB, Sapkota A, Abdelaziz S, Feng BJ, Huff CD, Hashibe M, Prchal JT. Evolutionary selected Tibetan variants of HIF pathway and risk of lung cancer. Oncotarget. 2017 Feb 14;8(7):11739-11747. doi: 10.18632/oncotarget.14340. PubMed PMID: 28036300; PubMed Central PMCID: PMC5355300.

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Feng BJ. PERCH: A Unified Framework for Disease Gene Prioritization. Hum Mutat. 2017 Mar;38(3):243-251. doi: 10.1002/humu.23158. Epub 2017 Jan 28. PubMed PMID: 27995669; PubMed Central PMCID: PMC5299048.

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Li H, Feng B, Miron A, Chen X, Beesley J, Bimeh E, Barrowdale D, John EM, Daly MB, Andrulis IL, Buys SS, Kraft P, kConFab investigators, Thorne H, Chenevix-Trench G, Southey MC, Antoniou AC, James PA, Terry MB, Phillips KA, Hopper JL, Mitchell G, Goldgar DE. Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab. Genet Med. 2017 Jan;19(1):30-35. doi: 10.1038/gim.2016.43. Epub 2016 May 12. PubMed PMID: 27171545; PubMed Central PMCID: PMC5107177.

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Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J, Breast Cancer Family Registry, Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV. Multigene testing of moderate-risk genes: be mindful of the missense. J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19. PubMed PMID: 26787654; PubMed Central PMCID: PMC4893078.

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Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, kConFab Investigators, James PA, Bruinsma F, Campbell IG, Australia Ovarian Cancer Study Group, Broeks A, Schmidt MK, Hogervorst FB, HEBON, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T, GEMO Study Collaborators, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomäki K, Butzow R, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken TV, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira MR, Collavoli A, Hallberg E, Olson JE, Goode EL, Hart SN, Shimelis H, Cunningham JM, Giles GG, Milne RL, Healey S, Tucker K, Haiman CA, Henderson BE, Goldberg MS, Tischkowitz M, Simard J, Soucy P, Eccles DM, Le N, Borresen-Dale AL, Kristensen V, Salvesen HB, Bjorge L, Bandera EV, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar RA, Ouweland AM, Andrulis IL, Knight JA, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene MH, Mai PL, Loud JT, García-Closas M, Schoemaker MJ, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park SK, Teo SH, Yoon SY, Matsuo K, Hosono S, Woo YL, Gao YT, Foretova L, Singer CF, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov EN, Hulick PJ, Olopade OI, Senter L, Olah E, Doherty JA, Schildkraut J, Koppert LB, Kiemeney LA, Massuger LF, Cook LS, Pejovic T, Li J, Borg A, Öfverholm A, Rossing MA, Wentzensen N, Henriksson K, Cox A, Cross SS, Pasini BJ, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson BA, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome, Antoniou AC, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning AM, Pharoah PD, Hall P, Easton DF, Couch FJ, Spurdle AB, Goldgar DE. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2016 Feb;108(2). doi: 10.1093/jnci/djv315. Print 2016 Feb. PubMed PMID: 26586665; PubMed Central PMCID: PMC4907358.

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Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J, kConFab Investigators, Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G. Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3. PubMed PMID: 26534844; PubMed Central PMCID: PMC4915734.

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Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. PubMed PMID: 25691505.

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Huang YH, Zhang ZF, Tashkin DP, Feng B, Straif K, Hashibe M. An epidemiologic review of marijuana and cancer: an update. Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):15-31. doi: 10.1158/1055-9965.EPI-14-1026. Review. PubMed PMID: 25587109; PubMed Central PMCID: PMC4302404.

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Tessereau C, Lesecque Y, Monnet N, Buisson M, Barjhoux L, Léoné M, Feng B, Goldgar DE, Sinilnikova OM, Mousset S, Duret L, Mazoyer S. Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing. Nucleic Acids Res. 2014 Aug;42(14):9121-30. doi: 10.1093/nar/gku639. Epub 2014 Jul 17. PubMed PMID: 25034697; PubMed Central PMCID: PMC4132748.

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Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2. PubMed PMID: 25050558; PubMed Central PMCID: PMC4234633.

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COMPLEXO, Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardóttir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Törngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang S, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434. PubMed PMID: 23809231; PubMed Central PMCID: PMC3706918.

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Taherian N, Hamel N, Bégin LR, Bismar TA, Goldgar DE, Feng BJ, Foulkes WD. Familial prostate cancer: the damage done and lessons learnt. Nat Rev Urol. 2013 Feb;10(2):116-22. doi: 10.1038/nrurol.2012.257. Epub 2013 Jan 15. PubMed PMID: 23318356; PubMed Central PMCID: PMC3913476.

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Feng B. Descriptive, environmental and genetic epidemiology of nasopharyngeal carcinoma. In: Busson P, editor. Nasopharyngeal Carcinoma New York: Springer and Landes Bioscience; 2012.

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Janavičius R, Rudaitis V, Feng BJ, Ozolina S, Griškevičius L, Goldgar D, Tihomirova L. Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation. Eur J Med Genet. 2013 Mar;56(3):125-30. doi: 10.1016/j.ejmg.2012.12.007. Epub 2012 Dec 27. PubMed PMID: 23274591.

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Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J, Collaborative Association Study of Psoriasis (CASP), Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet. 2012 Dec;44(12):1341-8. doi: 10.1038/ng.2467. Epub 2012 Nov 11. PubMed PMID: 23143594; PubMed Central PMCID: PMC3510312.

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Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV. Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22. PubMed PMID: 22949387; PubMed Central PMCID: PMC4318556.

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Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C, kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM, Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R, French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE, ENIGMA Consortium. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. PubMed PMID: 22889855; PubMed Central PMCID: PMC3810416.

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Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E. Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4. PubMed PMID: 22763381; PubMed Central PMCID: PMC3548269.

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Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19. PubMed PMID: 22521419; PubMed Central PMCID: PMC3376540.

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Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20. PubMed PMID: 22264670.

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Feng BJ, Tavtigian SV, Southey MC, Goldgar DE. Design considerations for massively parallel sequencing studies of complex human disease. PLoS One. 2011;6(8):e23221. doi: 10.1371/journal.pone.0023221. Epub 2011 Aug 5. PubMed PMID: 21850262; PubMed Central PMCID: PMC3151293.

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Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, Gorski B, Hansen Tv, Nielsen FC, Thomassen M, Yannoukakos D, Konstantopoulou I, Zajac V, Ciernikova S, Couch FJ, Greenwood CM, Goldgar DE, Foulkes WD. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet. 2011 Mar;19(3):300-6. doi: 10.1038/ejhg.2010.203. Epub 2010 Dec 1. PubMed PMID: 21119707; PubMed Central PMCID: PMC3062007.

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Jia WH, Luo XY, Feng BJ, Ruan HL, Bei JX, Liu WS, Qin HD, Feng QS, Chen LZ, Yao SY, Zeng YX. Traditional Cantonese diet and nasopharyngeal carcinoma risk: a large-scale case-control study in Guangdong, China. BMC Cancer. 2010 Aug 20;10:446. doi: 10.1186/1471-2407-10-446. PubMed PMID: 20727127; PubMed Central PMCID: PMC2931495.

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Li Y, Liao W, Cargill M, Chang M, Matsunami N, Feng BJ, Poon A, Callis-Duffin KP, Catanese JJ, Bowcock AM, Leppert MF, Kwok PY, Krueger GG, Begovich AB. Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol. 2010 Dec;130(12):2768-72. doi: 10.1038/jid.2010.214. Epub 2010 Jul 29. PubMed PMID: 20668468; PubMed Central PMCID: PMC3680368.