PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients
Age at first cancer diagnosis and the presence of multiple primary organ cancers are key risk factors for suspected germline PALB2 PV. Hence, strategies are required to improve adherence to the National Comprehensive Cancer Network guidelines for cancer screening and family genetic testing among Korean patients with cancer.
Authors
- Sung Hoon Sim (ORCID: https://orcid.org/0000-0002-1503-1075)
- Seeyoun Lee (ORCID: https://orcid.org/0000-0002-7576-1512)
- Wonyoung Choi (ORCID: https://orcid.org/0000-0002-8292-3903)
- Myong Cheol Lim (ORCID: https://orcid.org/0000-0001-8964-7158)
- H. Kim
- Han‐Sung Kang (ORCID: https://orcid.org/0000-0002-0609-4293)
- Keun Seok Lee (ORCID: https://orcid.org/0000-0001-5575-836X)
- Joonha Kwon (ORCID: https://orcid.org/0000-0002-6607-0277)
- So‐Youn Jung (ORCID: https://orcid.org/0000-0002-4508-4522)
- E. H. Cho (ORCID: https://orcid.org/0000-0001-6542-0936)
- Sun‐Young Kong (ORCID: https://orcid.org/0000-0003-0620-4058)
- Sang‐Yoon Park (ORCID: https://orcid.org/0000-0001-8325-6009)
- Jung-Ah Hwang
- Jong Eun Park (ORCID: https://orcid.org/0000-0001-9131-6518)
- Mingyeong Kang
Institutions
- National Cancer Center (US)
- Genome and Company (South Korea) (KR)
- National Cancer Center (KR)
- Hanyang University Guri Hospital (KR)
Publication Details
- Journal
- ESMO Open
- Published
- 2025-02-24
- DOI
- https://doi.org/10.1016/j.esmoop.2024.104132
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Ministry of Health and Welfare
- National Cancer Center