PALB2 (Partner and localizer of BRCA2)

More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (p < 0.001), although no differences were observed between the two groups in IBCFS or OS.

Radiologists play a central role in longitudinal surveillance and in counseling about risk-reducing options in coordination with genetics and surgery. These points translate the evidence into practical, gene-informed imaging care for patients with inherited breast cancer risk.

These findings support broader access to genetic testing as part of personalized breast cancer risk assessment. ClinicalTrials.gov Identifier: NCT02620852.

We found greater odds of FBSEs among PV/LPV carriers, notable disparities in FBSEs, and prevalent family letter receipt, familial disclosure, and cascade testing. This study highlights the role of PV/LPV-carrying status on FBSEs and the potential need for comprehensive guidelines beyond known risk factors to optimize skin cancer screening in high-risk populations.

While most findings overlap with broader populations, this study underscores Cyprus's distinct genetic profile shaped by its complex demographic history. Our findings provide actionable insights for healthcare planning, support population-specific genomic screening programs development, and contribute to the global effort to refine precision medicine applications.

The INHERITY LC study identified a PGV prevalence of 10.3% in a selected NSCLC cohort, with most variants affecting genes involved in the DNA damage repair (DDR) pathway. The application of specific selection criteria may enhance the yield of germline testing in this setting. Larger confirmatory studies are warranted to demonstrate that germline testing and genetic counseling for NSCLC may have implications for prevention, early detection, and treatment.

By contrast, for moderately penetrant genes, standard PGT-M would fail to select the lowest risk embryo approximately 5% of the time due to elevated PRS. This complex interplay suggests that caution should be exercised when considering preimplantation genetic testing involving exclusively monogenic variants of moderate penetrance or polygenic scores.

P=N/A, N=332, Completed, University Health Network, Toronto | Active, not recruiting --> Completed | Trial completion date: Dec 2024 --> Aug 2025 | Trial primary completion date: Dec 2024 --> Aug 2025

© 2025 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland

A 54-year-old woman was diagnosed with stage IIIB HER2-positive invasive breast cancer in 2017 and treated with neoadjuvant chemotherapy (TAC), modified radical mastectomy, radiotherapy, trastuzumab, and toremifene...It suggests that VUS in genes involved in cellular stress and metabolic pathways, particularly in combination with TP53 mutations, may contribute to the development of multiple primary malignancies. Furthermore, it underscores the importance of vigilant, phenotype-driven long-term surveillance in such patients, regardless of germline testing results.

Promising results have led to the approval of several PARPi agents as monotherapy or in combination with ARPIs in selected or unselected patients when chemotherapy is not clinically indicated. However, some questions remain regarding patient selection and treatment sequencing.

Integration of PV status, PRS, and family history enables more refined PCa risk estimates. The wide range of PCa risk observed among men of African ancestry in our study supports future prospective studies in the development of risk-stratified cancer screening programs to identify high-risk individuals who may benefit from screening at an earlier age.