Mitchell Machiela

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Dr. Machiela’s research is focused on understanding how inherited (germline) variation and acquired (somatic) mutations individually and jointly affect cancer risk. He is leading studies of large-scale genetic mosaicism to investigate the causes of acquired mosaic chromosomal alterations and their impact on cancer risk. He also conducts and analyzes genetic association studies to investigate the underlying genetic architecture of different cancers (e.g., pediatric and adult cancers) and identify potential germline-somatic interactions.

Research Interests

Papers共 207 篇Author StatisticsCo-AuthorSimilar Experts

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Genetic Regulation of TERT Splicing Affects Cancer Risk by Altering Cellular Longevity and Replicative Potential

Oscar Florez-Vargas,Michelle Ho, Maxwell H Hogshead,Brenen W Papenberg,Chia-Han Lee,Kaitlin Forsythe,Kristine Jones, Wen Luo,Kedest Teshome,Cornelis Blauwendraat, Kimberly J Billingsley,Mikhail Kolmogorov,Melissa Meredith,Benedict Paten,Raj Chari, Chi Zhang,John S Schneekloth,Mitchell J Machiela,Stephen J Chanock,Shahinaz M Gadalla,Sharon A Savage,Sam M Mbulaiteye,Ludmila Prokunina-Olsson

Nature communicationsno. 1 (2025): 1676-1676

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Genome-wide Association Study of Prostate-Specific Antigen Levels in 392,522 Men Identifies New Loci and Improves Cross-Ancestry Prediction

Nature genetics（2025）

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Estimation of Mosaic Loss of Y Chromosome Cell Fraction with Genotyping Arrays Lacking Coverage in the Pseudoautosomal Region

Weiyin Zhou,Wen-Yi Huang,Neal D. Freedman,Mitchell Machiela

BMC Bioinformaticsno. 1 (2025): 1-12

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Associations of Self-Identified Race and Ethnicity and Genetic Ancestry with Mortality among Cancer Survivors

Jacqueline B Vo, Derek W Brown,Ian D Buller,Jaimie Z Shing, Naoise Synnott,Rena R Jones,Maria Teresa Landi,Wen-Yi Huang,Mitchell J Machiela,Amy Berrington De Gonzalez,Timiya S Nolan,Peter Kraft,Faustine Williams,Neal D Freedman

Journal of the National Cancer Institute (2025)

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Supplemental Table 5. from Social, Behavioral, and Clinical Risk Factors Are Associated with Clonal Hematopoiesis

Corey D. Young,Aubrey K. Hubbard,Pedro F. Saint-Maurice,Irenaeus C.C. Chan,Yin Cao,Duc Tran,Kelly L. Bolton,Stephen J. Chanock,Charles E. Matthews,Steven C. Moore,Erikka Loftfield,Mitchell J. Machiela

crossref（2024）

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Multiple New Ewing Sarcoma Susceptibility Loci Expand Knowledge of Germline Genetic Etiology and Nominate Mechanisms of Risk

Aubrey K. Hubbard,Weiyin Zhou, Carrie Boyce,Javed Khan,Melissa M. Hudson,Kirsten K. Ness, Zhaoming Wang,Katherine A. Janeway,Philip J. Lupo,Lindsay M. Morton,Stephen J. Chanock,Thomas G. Grunewald,Olivier Delattre,Mitchell J. Machiela

CANCER RESEARCHno. 6 (2024)

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Characterization of Somatic Copy Number Deletion of Chromosome 22q in Papillary Thyroid Carcinoma

Olivia W. Lee,Danielle Karyadi,Stephen Hartley, Weyin Zhou,Mitchell Machiela,Mykola Tronko,Tetiana Bogdanova,Liudmyla Zurnadzhy,Lindsay Morton,Stephen Chanock

Cancer Researchno. 6_Supplement (2024): 1762-1762

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Multi-ancestry Genome-Wide Association Study of Kidney Cancer Identifies 63 Susceptibility Regions

Mark P. Purdue,Diptavo Dutta,Mitchell J. Machiela,Bryan R. Gorman,Timothy Winter, Dayne Okuhara, Sara Cleland,Aida Ferreiro-Iglesias,Paul Scheet,Aoxing Liu, Chao Wu,Samuel O. Antwi,James Larkin,Stenio C. Zequi,Maxine Sun,Keiko Hikino,Ali Hajiran,Keith A. Lawson, Flavio Carcano,Odile Blanchet,Brian Shuch,Kenneth G. Nepple,Gaelle Margue,Debasish Sundi,W. Ryan Diver,Maria A. A. K. Folgueira,Adrie van Bokhoven,Florencia Neffa,Kevin M. Brown,Jonathan N. Hofmann,Jongeun Rhee,Meredith Yeager,Nathan R. Cole,Belynda D. Hicks,Michelle R. Manning,Amy A. Hutchinson,Nathaniel Rothman,Wen-Yi Huang,W. Marston Linehan,Adriana Lori,Matthieu Ferragu,Merzouka Zidane-Marinnes,Sergio V. Serrano,Wesley J. Magnabosco, Ana Vilas,Ricardo Decia,Florencia Carusso,Laura S. Graham, Kyra Anderson,Mehmet A. Bilen,Cletus Arciero,Isabelle Pellegrin,Solene Ricard,Ghislaine Scelo,Rosamonde E. Banks,Naveen S. Vasudev,Naeem Soomro,Grant D. Stewart,Adebanji Adeyoju, Stephen Bromage,David Hrouda,Norma Gibbons,Poulam Patel,Mark Sullivan,Andrew Protheroe, Francesca I. Nugent,Michelle J. Fournier, Xiaoyu Zhang,Lisa J. Martin,Maria Komisarenko,Timothy Eisen,Sonia A. Cunningham,Denise C. Connolly,Robert G. Uzzo,David Zaridze,Anush Mukeria,Ivana Holcatova,Anna Hornakova,Lenka Foretova,Vladimir Janout,Dana Mates,Viorel Jinga,Stefan Rascu,Mirjana Mijuskovic,Slavisa Savic,Sasa Milosavljevic,Valerie Gaborieau,Behnoush Abedi-Ardekani,James Mckay,Mattias Johansson,Larry Phouthavongsy, Lindsay Hayman,Jason Li,Ilinca Lungu,Stephania M. Bezerra,Aline G. Souza, Claudia T. G. Sares,Rodolfo B. Reis,Fabio P. Gallucci,Mauricio D. Cordeiro,Mark Pomerantz,Gwo-Shu M. Lee,Matthew L. Freedman,Anhyo Jeong,Samantha E. Greenberg,Alejandro Sanchez,R. Houston Thompson,Vidit Sharma,David D. Thiel,Colleen T. Ball,Diego Abreu,Elaine T. Lam,William C. Nahas,Viraj A. Master,Alpa V. Patel,Jean-Christophe Bernhard,Neal D. Freedman,Pierre Bigot,Rui M. Reis,Leandro M. Colli,Antonio Finelli,Brandon J. Manley,Chikashi Terao,Toni K. Choueiri,Dirce M. Carraro,Richard Houlston,Jeanette E. Eckel-Passow,Philip H. Abbosh,Andrea Ganna,Paul Brennan,Jian Gu,Stephen J. Chanock

NATURE GENETICS（2024）

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Senior Investigator

Papers共 207 篇Author StatisticsCo-AuthorSimilar Experts