Work

Within-family analysis of PRS313: insights into breast cancer risk prediction

Year: 2025

Type: article

Study design: Observational Study

Abstract: and breast cancer risk (OR: 1.24, 95 % CI: 1.002-1.54). However, PRS differences between patients and their first- and second-degree relatives showed strong statistical significance. The monogenic variant analysis identified 21 loss-of-function (LOF) variants in the cohort, but only one (BRCA2 9976A > T) was common among breast cancer cases. Our findings highlight the importance of within-family analysis of PRS and the challenges of applying European-derived PRS models to diverse populations.

Source: Journal of Genetic Engineering and Biotechnology

DOI: 10.1016/j.jgeb.2025.100605

Authors: Hossein Lanjanian, Sahand Tehrani Fateh, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Maryam Zarkesh, Sajedeh Masjoudi, Asiyeh Sadat Zahedi, Leila Najd-Hassan-Bonab, Sara Asgarian, Mohammad Reza Moghaddas, Kamran Guity, Bita Shalbafan, Amirabbas Momenan, Davood Khalili, Fahimeh Ramezani Tehrani, Mehdi Hedayati, Fereidoun Azizi, Maryam S Daneshpour

Institutions: Research Institute for Endocrine Sciences, Shahid Beheshti University, Shahid Beheshti University of Medical Sciences, Tehran University of Medical Sciences, University of Iceland, Hospital Labbafinejad

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,000

Funders: Ministry of Health and Medical Education, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences

Awards: G2370965639, G7435655878

OpenAlex ID: W4415533578

FWCI:

Cites: 22

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