The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

J Kumuthini, B Zick, A Balasopoulou, C Chalikiopoulou… - Human Genetics, 2022 - Springer
Genomic medicine aims to improve health using the individual genomic data of people to
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

S Yadav, NJ Boddicker, J Na, EC Polley… - Journal of Clinical …, 2023 - ascopubs.org
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with
germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 …

[HTML][HTML] EBCC-13 manifesto: balancing pros and cons for contralateral prophylactic mastectomy

MK Schmidt, JE Kelly, A Brédart, DA Cameron… - European Journal of …, 2023 - Elsevier
After a diagnosis of unilateral breast cancer, increasing numbers of patients are requesting
contralateral prophylactic mastectomy (CPM), the surgical removal of the healthy breast after …

The risk of contralateral breast cancer: a SEER-based analysis

V Giannakeas, DW Lim, SA Narod - British Journal of Cancer, 2021 - nature.com
Background We sought to estimate the annual risk and 25-year cumulative risk of
contralateral breast cancer among women with stage 0–III unilateral breast cancer. Methods …

PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in~ 200,000 patients

D Giardiello, MJ Hooning, M Hauptmann… - Breast cancer …, 2022 - Springer
Background Prediction of contralateral breast cancer (CBC) risk is challenging due to
moderate performances of the known risk factors. We aimed to improve our previous risk …

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

SH Mueller, AG Lai, M Valkovskaya, K Michailidou… - Genome medicine, 2023 - Springer
Background Low-frequency variants play an important role in breast cancer (BC)
susceptibility. Gene-based methods can increase power by combining multiple variants in …

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or …

IMM Lakeman, AJ Van den Broek, JAM Vos… - Genetics in …, 2021 - nature.com
Purpose To evaluate the association between a previously published 313 variant–based
breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) …

Associations of a breast cancer polygenic risk score with tumor characteristics and survival

JMN Lopes Cardozo, IL Andrulis… - Journal of Clinical …, 2023 - ascopubs.org
PURPOSE A polygenic risk score (PRS) consisting of 313 common genetic variants
(PRS313) is associated with risk of breast cancer and contralateral breast cancer. This study …

A systematic review and critical assessment of breast cancer risk prediction tools incorporating a polygenic risk score for the general population

C Mbuya-Bienge, N Pashayan, CD Kazemali… - Cancers, 2023 - mdpi.com
Simple Summary Several risk prediction tools have been developed to better stratify women
according to their risk of developing breast cancer (BC) and inform prevention and early …

Individualizing Breast Cancer Risk Assessment in Clinical Practice

AE Cyr, K Kennard - Surgical Oncology Clinics, 2023 - surgonc.theclinics.com
Breast cancer (BC) is the most common malignancy in American women.*, 1 Mortality has
declined, in part because screening detects cancers at an early stage. 2 For most women …