Rosalind A. Eeles

Nov 6, 2024 | nature.com | Joan Röhl |Johanna Schleutker |Kenneth Muir |Henrik Grönberg |Nora Pashayan |Demetrius Albanes | +20 more

AbstractGenetic variation at the 19q13.3 KLK locus is linked with prostate cancer susceptibility in men. The non-synonymous KLK3 single nucleotide polymorphism (SNP), rs17632542 (c.536 T > C; Ile163Thr-substitution in PSA) is associated with reduced prostate cancer risk, however, the functional relevance is unknown. Here, we identify that the SNP variant-induced change in PSA biochemical activity mediates prostate cancer pathogenesis.

Nov 6, 2023 | nature.com | Rosalind A. Eeles

AbstractThe clinical importance of germline variants in DNA repair genes (DRGs) is becoming increasingly recognized, but their impact on advanced prostate cancer prognosis remains unclear. A cohort of 221 newly diagnosed metastatic castration-resistant prostate cancer (mCRPC) patients were screened for pathogenic germline variants in 114 DRGs. The primary endpoint was progression-free survival (PFS) on first-line androgen signaling inhibitor (ARSI) treatment for mCRPC.

Aug 23, 2023 | nature.com | Yuki Ishikawa |Rosalind A. Eeles |Yoshinao Koike |Keiko Hikino |Momoko Horikoshi |Kaoru Ito | +4 more

AbstractProstate cancer (PrCa) is the second most common cancer worldwide in males. While strongly warranted, the prediction of mortality risk due to PrCa, especially before its development, is challenging.