Education

MD: Chung-Ang University, Seoul, South Korea

PhD: The Catholic University, Seoul, South Korea

Postdoctoral Fellowship: Department of Surgery, University of Pittsburgh Medical Center

Pediatric Residency: Metropolitan Hospital Center, New York Medical College

Pediatric Hematology/Oncology Fellowship: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University

Genetic Medicine Fellowship: Johns Hopkins Medical Institute

Cancer Genetics Fellowship: National Cancer Institute

Clinical Interests

Dr. Sun Young Kim’s clinical interests center on the comprehensive evaluation of both somatic and germline genetic contributions to cancer. She specializes in the interpretation of tumor-based (somatic) genomic alterations alongside inherited (germline) variants, integrating these data to provide a more complete understanding of each patient’s cancer biology. Her work emphasizes how these complementary genomic insights can inform diagnostic assessment, refine prognostic expectations, and support individualized therapeutic decision-making.

Dr. Kim is also deeply interested in the intersection of immunology and cancer genetics. She focuses on identifying immune-related pathways that reveal connections between primary immunodeficiency disorders (PID) and cancer susceptibility. By examining how disruptions in immune function contribute to malignancy, she aims to improve recognition of hereditary immunologic conditions that predispose individuals to cancer and to enhance early detection strategies for these high-risk populations.

Publications

1. Germline APC I1307K and MITF E318K variants in a patient with high-grade serous ovarian carcinoma: A case report. Cancer Genet. 2026 Jan 24:302-303:107-111. Samantha C Covey , Michelle M De Jesus Ortiz, Amelia Jernigan, Ridin Balakrishnan, Sun Young Kim, Lucio Miele

2. Genomic Ascertainment of CHEK2-Related Cancer Predisposition. JAMA Netw Open. 2025 Dec 15;8(12):e2549730. Sun Young Kim, Jung Kim, Mark Ramos, Jeremy Haley, Diane Smelser, H Shanker Rao, Uyenlinh L Mirshahi, Katherine L Nathanson, Barry I Graubard, Hormuzd A Katki, David Carey, Douglas R Stewart, for the Geisinger-Regeneron DiscovEHR Collaboration and Penn Medicine Biobank

3. Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children. Clin Cancer Res. 2025 May 1;31(9):1573-1579. Junne Kamihara, Jaclyn Schienda, Rose B McGee, Danielle Novetsky Friedman, Surya P Rednam, Jack J Brzezinski, Sun Young Kim, Kerri D Becktell, Philip J Lupo, Brenda L Gallie, Mary-Louise C Greer, Jordan R Hansford, Garrett M Brodeur

4. Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genet Med Open. 2024 Sep 10:2:101875. Harry Lesmana, Sun Young Kim, Andrés Morales Corado, Sheri A Poskanzer; ACMG Therapeutics Committee8∗documents@acmg.net

5. Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods. Am J Med Genet A. 2025 Mar;197(3):e63925. Sun Young Kim, Elizabeth Wohler, Maria Jimena Gutierrez, Christy Sadreameli, Eric Kossoff, Nara Lygia Sobreira

6. Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes. Clin Cancer Res. 2025 Feb 3;31(3):457-465. Orli Michaeli, Sun Young Kim, Sarah G Mitchell, Marjolijn C J Jongmans, Jonathan D Wasserman, Melissa R Perrino, Anirban Das, Suzanne P MacFarland, Sarah R Scollon, Mary-Louise C Greer, Nara Sobreira, Bailey Gallinger, Philip J Lupo, David Malkin, Kami Wolfe Schneider, Kris Ann P Schultz, William D Foulkes, Emma R Woodward, Douglas R Stewart

7. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clin Cancer Res. 2025 Jan 17;31(2):234-244. Kris Ann P Schultz, Suzanne P MacFarland, Melissa R Perrino, Sarah G Mitchell, Junne Kamihara, Alexander T Nelson, Paige H R Mallinger, Jack J Brzezinski, Kara N Maxwell, Emma R Woodward, Bailey Gallinger, Sun Young Kim, Mary-Louise C Greer, Kami Wolfe Schneider, Sarah R Scollon, Anirban Das, Jonathan D Wasserman, Charis Eng, David Malkin, William D Foulkes, Orli Michaeli, Andrew J Bauer, Douglas R Stewart

8. Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clin Cancer Res. 2024 Oct 1;30(19):4286-4295. Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaelle Bougeard, Vivian Y Chang, Lucy A Godley, Payal P Khincha, Roland P Kuiper, Harry Lesmana, Rose B McGee, Lisa J McReynolds, Julia Meade, Sharon E Plon, Sharon A Savage, Sarah R Scollon, Hamish S Scott, Michael F Walsh, Kim E Nichols, Christopher C Porter

9. Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clin Cancer Res. 2024 Jun 3;30(11):2342-2350. Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara

10. Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome. Am J Med Genet A. 2024 Oct;194(10):e63788. Aaron Y Mochizuki, Chinmayee B Nagaraj, Douglas Depoorter, Kathleen M Schieffer, Sun Young Kim

11. 14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review. Am J Med Genet A. 2024 Jul;194(7):e63604. Claire Blake, Kimmie Widmeyer, Kristen DAquila, Aaron Mochizuki, Teresa A Smolarek, Natasha Pillay-Smiley, Sun Young Kim

12. Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases. J Clin Med. 2024 Mar 2;13(5):1465. Teodoro Jerves Serrano, Jessica Gold, James A Cooper, Heather J Church, Karen L Tylee, Hoi Yee Wu, Sun Young Kim, Karolina M Stepien

13. An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine. Case Rep Genet. 2022 Aug 30:2022:7138435. Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon

14. A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes. Cancers (Basel) 2022 Jul 2;14(13):3257. Esteban Astiazaran-Symonds, Jung Kim, Jeremy S Haley, Sun Young Kim, H Shanker Rao, Regeneron Genetics Center, David J Carey, Douglas R Stewart, Alisa M Goldstein 15. Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. Mol Genet Genomic Med. 2021 Mar;9(3):e1494. Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat

16. Telemedicine: Current Impact on the Future. Cureus. 2020 Aug 20;12(8):e9891. Michael X Jin, Sun Young Kim, Lauren J Miller, Gauri Behari, Ricardo Correa

17. ACMQ Student, Resident, and Fellow Section (SRF) COVID-19 Resident and Fellow Survey. Am J Med Qual. 2020 May/Jun;35(3):289-290. Michael Jin, Christopher Jackson, Assim M AlAbdulKader, Kevin Hummel, Jeffrey Kott, Oliver Nguyen, Sohayla Rostami, Sun Young Kim

18. Clinical responses and persistent BRAF V600E+ blood cells in children with LCH treated with MAPK pathway inhibition. Blood. 2019 Apr 11;133(15):1691-1694. Olive S Eckstein 1 2, Johannes Visser 3, Carlos Rodriguez-Galindo 4 5, Carl E Allen 1 2; NACHO-LIBRE Study Group

Research

Dr. Sun Young Kim’s research focuses on leveraging comprehensive genome sequencing to identify novel variants and previously unrecognized cancer predisposition genes, particularly those missed by standard panel-based testing. She is deeply interested in uncovering molecular pathways that link genomic variation to immune dysregulation, with the goal of clarifying how primary immunodeficiency contributes to cancer susceptibility. Her work also extends to downstream pathway analyses aimed at identifying biologically meaningful targets that can improve diagnostic precision and inform the development of more effective, targeted therapeutic strategies.