Transmission ratio distortion of germline <i>TP53</i> variants in Li–Fraumeni syndrome families
This study revealed significant TRD in TP53 P/LPV inheritance among Israeli LFS families. A potential mechanism involves the role of TP53 in the cell cycle, in which reduced TP53 function may enhance embryonic cell proliferation, offering a survival or implantation advantage. TRD in LFS has implications for genetic counseling, reproductive decision making, and clinical management. These findings underscore the need for further research to validate TRD across diverse populations and elucidate the underlying mechanisms.
Authors
- Yael Goldberg
- Yehudit Peerless
- Iris Kventsel (ORCID: https://orcid.org/0000-0003-4806-345X)
- Hagit Shani (ORCID: https://orcid.org/0000-0003-2580-1157)
- Inbal Kedar
- Naama Halpern (ORCID: https://orcid.org/0000-0002-8926-4154)
- Ben Boursi (ORCID: https://orcid.org/0000-0002-1304-8340)
- Eitan Friedman
- Rinat Bernstein‐Molho (ORCID: https://orcid.org/0000-0002-4068-9514)
- Michal Yalon (ORCID: https://orcid.org/0000-0001-9832-7068)
- Gal Strauss
Institutions
- Tel Aviv University (IL)
- Sheba Medical Center (IL)
- Rabin Medical Center (IL)
- Edmond and Lily Safra Children's Hospital (IL)
- University of Pennsylvania (US)
Publication Details
- Journal
- Cancer
- Published
- 2025-06-21
- DOI
- https://doi.org/10.1002/cncr.35943
- Citations
- 3
- Primary Topic
- Cancer-related Molecular Pathways
- Type
- article
- Field-Weighted Citation Impact
- 3.14