Perelman School of Medicine at the University of Pennsylvania

Nathanson Lab

Selected Publications

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, et al.
Nat Commun. 2022 Nov 7;13(1):6728. doi: 10.1038/s41467-022-34523-y.
PMID: 36344544 

Impact of integrating genomic data into the electronic health record on genetics care delivery.
Lau-Min KS, McKenna D, Asher SB, Bardakjian T, Wollack C, et al.
Genet Med. 2022 Nov;24(11):2338-2350. doi: 10.1016/j.gim.2022.08.009. Epub 2022 Sep 15.
PMID: 36107166

Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, et al.
Clin Genet. 2022 Sep 12. doi: 10.1111/cge.14231. Online ahead of print.
PMID: 36089892

PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.
Kraya AA, Maxwell KN, Eiva MA, Wubbenhorst B, Pluta J, et al.
JCO Precis Oncol. 2022 Feb;6:e2100159. doi: 10.1200/PO.21.00159.
PMID: 35201851


Identification of 22 susceptibility loci associated with testicular germ cell tumors.
Pluta J, Pyle LC, Nead KT, Wilf R, Li M, et al.
Nat Commun. 2021 Jul 23;12(1):4487. doi: 10.1038/s41467-021-24334-y.
PMID: 34301922

From Race-Based to Precision Oncology: Leveraging Behavioral Economics and the Electronic Health Record to Advance Health Equity in Cancer Care.
Lau-Min KS, Guerra CE, Nathanson KL, Bekelman JE.
JCO Precis Oncol. 2021 Feb 17;5:PO.20.00418. doi: 10.1200/PO.20.00418. eCollection 2021.
PMID: 34250405


Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, et al.
Genet Epidemiol. 2020 Mar 1. doi: 10.1002/gepi.22288.
PMID: 32115800

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, et al.
Nat Genet. 2020 Jan;52(1):56-73. doi: 10.1038/s41588-019-0537-1. Epub 2020 Jan 7.
PMID: 31911677

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, et al.
J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16.
PMID: 31841383

Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation.
Wattenberg MM, Asch D, Yu S, O'Dwyer PJ, Domchek SM, et al.
Br J Cancer. 2020 Feb;122(3):333-339. doi: 10.1038/s41416-019-0582-7. Epub 2019 Dec 2.
PMID: 31787751

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, et al.
Cancer Res. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13.
PMID: 31723001


The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, et al.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13.
PMID: 31721432

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, et al.
NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.
PMID: 31700994

Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, et al.
JCO Precis Oncol. 2019;3. doi: 10.1200/PO.19.00076. Epub 2019 Aug 19.
PMID: 31511844

Association between fine mapping thymic stromal lymphopoietin and atopic dermatitis onset and persistence.
Lou C, Mitra N, Wubbenhorst B, D'Andrea K, Hoffstad O, et al.
Ann Allergy Asthma Immunol. 2019 Dec;123(6):595-601.e1. doi: 10.1016/j.anai.2019.08.018. Epub 2019 Sep 4.
PMID: 31491540

Opposing Functions of Interferon Coordinate Adaptive and Innate Immune Responses to Cancer Immune Checkpoint Blockade.
Benci JL, Johnson LR, Choa R, Xu Y, Qiu J, et al.
Cell. 2019 Aug 8;178(4):933-948.e14. doi: 10.1016/j.cell.2019.07.019.
PMID: 31398344

Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
Gaieski JB, Patrick-Miller L, Egleston BL, Maxwell KN, Walser S, et al.
Mol Genet Genomic Med. 2019 Sep;7(9):e898. doi: 10.1002/mgg3.898. Epub 2019 Aug 3.
PMID: 31376244

Filaggrin sequencing and bioinformatics tools.
Margolis DJ, Mitra N, Wubbenhorst B, Nathanson KL.
Arch Dermatol Res. 2020 Mar;312(2):155-158. doi: 10.1007/s00403-019-01956-3. Epub 2019 Aug 1.
PMID: 31372728

Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.
Margolis DJ, Mitra N, Wubbenhorst B, D'Andrea K, Kraya AA, et al.
JAMA Dermatol. 2019 Jul 31. doi: 10.1001/jamadermatol.2019.1946.
PMID: 31365035

In Vivo ERK1/2 Reporter Predictively Models Response and Resistance to Combined BRAF and MEK Inhibitors in Melanoma.
Sanchez IM, Purwin TJ, Chervoneva I, Erkes DA, Nguyen MQ, et al.
Mol Cancer Ther. 2019 Sep;18(9):1637-1648. doi: 10.1158/1535-7163.MCT-18-1056. Epub 2019 Jul 3.
PMID: 31270153

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening.
Hammet F, Mahmood K, Green TR, Nguyen-Dumont T, Southey MC, et al.
Biotechniques. 2019 Sep;67(3):118-122. doi: 10.2144/btn-2019-0026. Epub 2019 Jul 3.
PMID: 31267764

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, et al.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
PMID: 31131967

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Friebel TM, Andrulis IL, Balmaña J, Blanco AM, Couch FJ, et al.
Hum Mutat. 2019 Oct;40(10):1781-1796. doi: 10.1002/humu.23804. Epub 2019 Jul 3.
PMID: 31112363

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, et al.
Nat Commun. 2019 Apr 15;10(1):1741. doi: 10.1038/s41467-018-08053-5.
PMID: 30988301

Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer.
Kraya AA, Maxwell KN, Wubbenhorst B, Wenz BM, Pluta J, et al.
Clin Cancer Res. 2019 Jul 15;25(14):4363-4374. doi: 10.1158/1078-0432.CCR-18-0468. Epub 2019 Mar 26.
PMID: 30914433

A single dose of neoadjuvant PD-1 blockade predicts clinical outcomes in resectable melanoma.
Huang AC, Orlowski RJ, Xu X, Mick R, George SM, et al.
Nat Med. 2019 Mar;25(3):454-461. doi: 10.1038/s41591-019-0357-y. Epub 2019 Feb 25.
PMID: 30804515

Shared heritability and functional enrichment across six solid cancers.
Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, et al.
Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4. Erratum in: Nat Commun. 2019 Sep 23;10(1):4386.
PMID: 30683880

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, et al.
J Natl Cancer Inst. 2019 Apr 1;111(4):350-364. doi: 10.1093/jnci/djy132.
PMID: 30312457

Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, et al.
Gastroenterology. 2019 Jan;156(1):273-274. doi: 10.1053/j.gastro.2018.09.036. Epub 2018 Sep 19. No abstract available.
PMID: 30243621


NRAS Q61R and BRAF G466A mutations in atypical melanocytic lesions newly arising in advanced melanoma patients treated with vemurafenib.
Parekh V, Sobanko J, Miller CJ, Karakousis G, Xu W, et al.
J Cutan Pathol. 2018 Dec 14. doi: 10.1111/cup.13401.
PMID: 30552700

A practical approach to adjusting for population stratification in genome-wide association studies: principal components and propensity scores (PCAPS).
Zhao H, Mitra N, Kanetsky PA, Nathanson KL, Rebbeck TR.
Stat Appl Genet Mol Biol. 2018 Dec 4. pii: /j/sagmb.ahead-of-print/sagmb-2017-0054/sagmb-2017-0054.xml. doi: 10.1515/sagmb-2017-0054.
PMID: 30507552

CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing.
Jiang Y, Wang R, Urrutia E, Anastopoulos IN, Nathanson KL, et al.
Genome Biol. 2018 Nov 26;19(1):202. doi: 10.1186/s13059-018-1578-y.
PMID: 30477554

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, et al.
J Natl Cancer Inst. 2018 Oct 12. doi: 10.1093/jnci/djy132.
PMID: 30312457

Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, et al.
Gastroenterology. 2019 Jan;156(1):273-274. doi: 10.1053/j.gastro.2018.09.036. Epub 2018 Sep 19.
PMID: 30243621

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K.
Genet Med. 2018 Jul;20(7):671-682. doi: 10.1038/gim.2018.28. Epub 2018 Apr 26.
PMID: 30006586

Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage.
Kofke WA, Ren Y, Augoustides JG, Li H, Nathanson K, et al.
Front Neurol. 2018 Jun 26;9:497. doi: 10.3389/fneur.2018.00497. eCollection 2018.
PMID: 29997569

Integrated Molecular Characterization of Testicular Germ Cell Tumors.
Shen H, Shih J, Hollern DP, Wang L, Bowlby R, et al.
Cell Rep. 2018 Jun 12;23(11):3392-3406. doi: 10.1016/j.celrep.2018.05.039.
PMID: 29898407

Genetic variation in the Hippo pathway and breast cancer risk in women of African ancestry.
Wang S, Huo D, Ogundiran TO, Ojengbede O, Zheng W, et al.
Mol Carcinog. 2018 Oct;57(10):1311-1318. doi: 10.1002/mc.22845. Epub 2018 Jun 14.
PMID: 29873413

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.
Powis Z, Espenschied CR, LaDuca H, Hagman KD, Paudyal T, et al.
Cancer Genet. 2018 Aug;224-225:12-20. doi: 10.1016/j.cancergen.2018.04.002. Epub 2018 Apr 6.
PMID: 29778231

Arginase 2 Suppresses Renal Carcinoma Progression via Biosynthetic Cofactor Pyridoxal Phosphate Depletion and Increased Polyamine Toxicity.
Ochocki JD, Khare S, Hess M, Ackerman D, Qiu B, et al.
Cell Metab. 2018 Jun 5;27(6):1263-1280.e6. doi: 10.1016/j.cmet.2018.04.009. Epub 2018 May 10.
PMID: 29754953

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.
Wang Y, Gray DR, Robbins AK, Crowgey EL, Chanock SJ, et al.
Hum Reprod. 2018 May 1;33(5):967-977. doi: 10.1093/humrep/dey066.
PMID: 29618007

Publisher correction: Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, et al.
Nat Commun. 2018 Mar 5;9:16159. doi: 10.1038/ncomms16159.
PMID: 29596408

Induction of Telomere Dysfunction Prolongs Disease Control of Therapy-Resistant Melanoma.
Zhang G, Wu LW, Mender I, Barzily-Rokni M, Hammond MR, et al.
Clin Cancer Res. 2018 Oct 1;24(19):4771-4784. doi: 10.1158/1078-0432.CCR-17-2773. Epub 2018 Mar 21.
PMID: 29563139

Corrigendum: Rare cell variability and drug-induced reprogramming as a mode of cancer drug resistance.
Shaffer SM, Dunagin MC, Torborg SR, Torre EA, Emert B, et al.
Nature. 2018 Mar 8;555(7695):274. doi: 10.1038/nature25162. Epub 2018 Feb 21.
PMID: 29466340

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, et al.
Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
PMID: 29446198

Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans.
Margolis DJ, Mitra N, Gochnauer H, Wubbenhorst B, D'Andrea K, et al.
J Invest Dermatol. 2018 Jul;138(7):1501-1506. doi: 10.1016/j.jid.2018.01.029. Epub 2018 Feb 8. Erratum in: J Invest Dermatol. 2018 Sep;138(9):2084-2085.
PMID: 29428354

Tumor Immunity and Survival as a Function of Alternative Neopeptides in Human Cancer.
Rech AJ, Balli D, Mantero A, Ishwaran H, Nathanson KL, et al.
Cancer Immunol Res. 2018 Jan 16. doi: 10.1158/2326-6066.CIR-17-0559.
PMID: 29339376

Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.
Wang S, Qian F, Zheng Y, Ogundiran T, Ojengbede O, et al.
Breast Cancer Res Treat. 2018 Jan 4. doi: 10.1007/s10549-017-4638-1.
PMID: 29302764


Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines.
Garman B, Anastopoulos IN, Krepler C, Brafford P, Sproesser K, et al.
Cell Rep. 2017 Nov 14;21(7):1936-1952. doi: 10.1016/j.celrep.2017.10.052.
PMID: 29141224

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, et al.
Nat Commun. 2017 Aug 22;8(1):319. doi: 10.1038/s41467-017-00388-9.
PMID: 28831036

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Wasserman JD, Tomlinson GE, Druker H, Kamihara J, Kohlmann WK, et al.
Clin Cancer Res. 2017 Jul 1;23(13):e123-e132. doi: 10.1158/1078-0432.CCR-17-0548. Review.
PMID: 28674121

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, et al.
Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Review.
PMID: 28674119

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, et al.
NPJ Breast Cancer. 2017 Jun 9;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.
PMID: 28649662

A functionally significant SNP in TP53 and breast cancer risk in African-American women.
Murphy ME, Liu S, Yao S, Huo D, Liu Q, et al.
NPJ Breast Cancer. 2017 Feb 27;3:5. doi: 10.1038/s41523-017-0007-9. eCollection 2017.
PMID: 28649645

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, et al.
Clin Cancer Res. 2017 Jun 15;23(12):e83-e90. doi: 10.1158/1078-0432.CCR-17-0631. Review.
PMID: 28620009

Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, et al.
Clin Cancer Res. 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. Review.
PMID: 28620007

Rare cell variability and drug-induced reprogramming as a mode of cancer drug resistance.
Shaffer SM, Dunagin MC, Torborg SR, Torre EA, Emert B, et al.
Nature. 2017 Jun 15;546(7658):431-435. doi: 10.1038/nature22794. Epub 2017 Jun 7.
PMID: 28607484

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
Wang Z, McGlynn KA, Rajpert-De Meyts E, Bishop DT, Chung CC, et al.
Nat Genet. 2017 Jul;49(7):1141-1147. doi: 10.1038/ng.3879. Epub 2017 Jun 12.
PMID: 28604732

Association of breast cancer risk and the mTOR pathway in women of African ancestry in "The Root" Consortium.
Wang S, Huo D, Ogundiran TO, Ojengbede O, Zheng W, Nathanson KL, et al.
Carcinogenesis. 2017 Jun 5. doi: 10.1093/carcin/bgx055.
PMID: 28582508

Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer.
Huo D, Feng Y, Haddad S, Zheng Y, Yao S, et al.
Hum Mol Genet. 2016 Nov 1;25(21):4835-4846. doi: 10.1093/hmg/ddw305. No abstract available.
PMID: 28171663

SDHB mutation carriers with malignant pheochromocytoma respond better to CVD.
Fishbein L, Ben-Maimon S, Keefe S, Cengel K, Pryma DA, et al.
Endocr Relat Cancer. 2017 May 31. pii: ERC-17-0086. doi: 10.1530/ERC-17-0086. [Epub ahead of print]
PMID: 28566531

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
Pyle LC, Nathanson KL.
Am J Med Genet C Semin Med Genet. 2017 May 25. doi: 10.1002/ajmg.c.31562. [Epub ahead of print] Review.
PMID: 28544305

Application of Panel-Based Tests for Inherited Risk of Cancer.
Shah PD, Nathanson KL.
Annu Rev Genomics Hum Genet. 2017 May 15. doi: 10.1146/annurev-genom-091416-035305. [Epub ahead of print]
PMID: 28504904

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, et al.
J Clin Oncol. 2017 Apr 27:JCO2016694935. doi: 10.1200/JCO.2016.69.4935. [Epub ahead of print]
PMID: 28448241

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, et al.
Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034.
PMID: 28447668

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
Ng MCY, Graff M, Lu Y, Justice AE, Mudgal P, et al.
PLoS Genet. 2017 Apr 21;13(4):e1006719. doi: 10.1371/journal.pgen.1006719. eCollection 2017 Apr.
PMID: 28430825

T-cell invigoration to tumour burden ratio associated with anti-PD-1 response.
Huang AC, Postow MA, Orlowski RJ, Mick R, Bengsch B, et al.
Nature. 2017 May 4;545(7652):60-65. doi: 10.1038/nature22079. Epub 2017 Apr 10.
PMID: 28397821

Pheochromocytoma and Paraganglioma Susceptibility Genes: Estimating the Associated Risk of Disease.
Fishbein L, Nathanson KL.
JAMA Oncol. 2017 Apr 6. doi: 10.1001/jamaoncol.2017.0222. [Epub ahead of print] No abstract available.
PMID: 28384677

Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry.
Feng Y, Rhie SK, Huo D, Ruiz-Narvaez EA, Haddad SA, et al.
Cancer Epidemiol Biomarkers Prev. 2017 Apr 4. pii: cebp.0567.2016. doi: 10.1158/1055-9965.EPI-16-0567. [Epub ahead of print]
PMID: 28377418

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, et al.
Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27.
PMID: 28346442

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, et al.
Cancer Cell. 2017 Feb 13;31(2):181-193. doi: 10.1016/j.ccell.2017.01.001. Epub 2017 Feb 2.
PMID: 28162975

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, et al.
Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1.
PMID: 28145423

A patient-derived-xenograft platform to study BRCA-deficient ovarian cancers.
George E, Kim H, Krepler C, Wenz B, Makvandi M, et al.
JCI Insight. 2017 Jan 12;2(1):e89760. doi: 10.1172/jci.insight.89760.
PMID: 28097235

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, et al.
Breast Cancer Res Treat. 2017 Jan;161(1):117-134. doi: 10.1007/s10549-016-4018-2. Epub 2016 Oct 28.
PMID: 27796716


Genetic changes associated with testicular cancer susceptibility.
Pyle LC, Nathanson KL.
Semin Oncol. 2016 Oct;43(5):575-581. doi: 10.1053/j.seminoncol.2016.08.004. Epub 2016 Sep 20. Review.
PMID: 27899190

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, et al.
Breast Cancer Res. 2016 Nov 11;18(1):112.
PMID: 27836010

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.
DeBrosse C, Nanga RP, Wilson N, D'Aquilla K, Elliott M, et al.
JCI Insight. 2016 Nov 3;1(18):e88207.
PMID: 27812541

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, et al.
Cancer Discov. 2016 Nov;6(11):1267-1275. Epub 2016 Sep 21.
PMID: 27655433

Targeting Notch enhances the efficacy of ERK inhibitors in BRAF-V600E melanoma.
Krepler C, Xiao M, Samanta M, Vultur A, Chen HY, et al.
Oncotarget. 2016 Nov 1;7(44):71211-71222. doi: 10.18632/oncotarget.12078.
PMID: 27655717

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, et al.
J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.
PMID: 27621404

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, et al.
Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675.
PMID: 27601076

Population Frequency of Germline BRCA1/2 Mutations.
Maxwell KN, Domchek SM, Nathanson KL, Robson ME.
J Clin Oncol. 2016 Dec;34(34):4183-4185. Epub 2016 Oct 31. No abstract available.
PMID: 27551127

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, et al.
PLoS One. 2016 Jul 27;11(7):e0158801. doi: 10.1371/journal.pone.0158801. eCollection 2016.
PMID: 27463617

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, et al.
Breast Cancer Res. 2016 Jun 21;18(1):64. doi: 10.1186/s13058-016-0718-0.
PMID: 27459855

PIM kinases as therapeutic targets against advanced melanoma.
Shannan B, Watters A, Chen Q, Mollin S, Dörr M, et al.
Oncotarget. 2016 Aug 23;7(34):54897-54912. doi: 10.18632/oncotarget.10703.
PMID: 27448973

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.
Qian F, Feng Y, Zheng Y, Ogundiran TO, Ojengbede O, et al.
Hum Genet. 2016 Oct;135(10):1145-59. doi: 10.1007/s00439-016-1707-1. Epub 2016 Jul 5.
PMID: 27380242

Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.
Shu CA, Pike MC, Jotwani AR, Friebel TM, Soslow RA, et al.
JAMA Oncol. 2016 Nov 1;2(11):1434-1440. doi: 10.1001/jamaoncol.2016.1820.
PMID: 27367496

Counselling framework for moderate-penetrance cancer-susceptibility mutations.
Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, et al.
Nat Rev Clin Oncol. 2016 Sep;13(9):581-8. doi: 10.1038/nrclinonc.2016.90. Epub 2016 Jun 14. Review.
PMID: 27296296

Comparison of the Lonidamine Potentiated Effect of Nitrogen Mustard Alkylating Agents on the Systemic Treatment of DB-1 Human Melanoma Xenografts in Mice.
Nath K, Nelson DS, Putt ME, Leeper DB, Garman B, et al.
PLoS One. 2016 Jun 10;11(6):e0157125. doi: 10.1371/journal.pone.0157125. eCollection 2016.
PMID: 27285585

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S, Li J, Katsaros D, Wubbenhorst B, Maxwell KN, et al.
Oncotarget. 2016 Jul 26;7(30):48577-48585. doi: 10.18632/oncotarget.9373.
PMID: 27191893

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, et al.
Am J Hum Genet. 2016 May 5;98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024.
PMID: 27153395

International cancer seminars: a focus on kidney cancer.
Scelo G, Hofmann JN, Banks RE, Bigot P, Bhatt RS, et al.
Ann Oncol. 2016 Aug;27(8):1382-5. doi: 10.1093/annonc/mdw186. Epub 2016 Apr 29.
PMID: 27130845

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, et al.
Nat Commun. 2016 Apr 27;7:11375. doi: 10.1038/ncomms11375.
PMID: 27117709

Risk-Stratified Initial Salvage Therapy for Relapsed or Refractory Metastatic Germ Cell Tumors.
Narayan V, Gunnarsson O, Hwang WT, Squillante CM, Nathanson KL, et al.
Clin Genitourin Cancer. 2016 Dec;14(6):524-529. doi: 10.1016/j.clgc.2016.03.015. Epub 2016 Mar 24.
PMID: 27083130

Genomic Biomarkers for Breast Cancer Risk.
Walsh MF, Nathanson KL, Couch FJ, Offit K.
Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1. Review.
PMID: 26987529

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, et al.
Nat Genet. 2016 Apr;48(4):374-86. doi: 10.1038/ng.3521. Epub 2016 Feb 29.
PMID: 26928228

CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.
Sargen MR, Merrill SL, Chu EY, Nathanson KL.
Br J Dermatol. 2016 Oct;175(4):785-9. doi: 10.1111/bjd.14485. Epub 2016 Jun 8.
PMID: 26876133

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, et al.
Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y.
PMID: 26857456

Enhancing the evaluation of PI3K inhibitors through 3D melanoma models.
Shannan B, Chen Q, Watters A, Perego M, Krepler C, et al.
Pigment Cell Melanoma Res. 2016 May;29(3):317-28. doi: 10.1111/pcmr.12465. Epub 2016 Mar 21.
PMID: 26850518

Personalized Preclinical Trials in BRAF Inhibitor-Resistant Patient-Derived Xenograft Models Identify Second-Line Combination Therapies.
Krepler C, Xiao M, Sproesser K, Brafford PA, Shannan B, et al.
Clin Cancer Res. 2016 Apr 1;22(7):1592-602. doi: 10.1158/1078-0432.CCR-15-1762. Epub 2015 Dec 16.
PMID: 26673799

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, et al.
J Natl Cancer Inst. 2015 Nov 19;108(2). pii: djv315. doi: 10.1093/jnci/djv315. Print 2016 Feb.
PMID: 26586665

DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3.
Yang RL, Mick R, Lee K, Graves HL, Nathanson KL, et al.
J Transl Med. 2015 Oct 24;13:335. doi: 10.1186/s12967-015-0698-3.
PMID: 26496879

Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, et al.
Endocr Relat Cancer. 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034.
PMID: 26459559

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, et al.
Brief Bioinform. 2016 Jul;17(4):672-7. doi: 10.1093/bib/bbv075. Epub 2015 Sep 10.
PMID: 26358132

Association of HLA-DRB1 genetic variants with the persistence of atopic dermatitis.
Margolis DJ, Mitra N, Kim B, Gupta J, Hoffstad OJ, et al.
Hum Immunol. 2015 Aug;76(8):571-7. doi: 10.1016/j.humimm.2015.08.003. Epub 2015 Aug 22.
PMID: 26307177

Copy Number Changes Are Associated with Response to Treatment with Carboplatin, Paclitaxel, and Sorafenib in Melanoma.
Wilson MA, Zhao F, Khare S, Roszik J, Woodman SE, et al.
Clin Cancer Res. 2016 Jan 15;22(2):374-82. doi: 10.1158/1078-0432.CCR-15-1162. Epub 2015 Aug 25.
PMID: 26307133