Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field
Polygenic factors are estimated to account for an additional 18% of the familial relative risk
of breast cancer, with those at the highest level of polygenic risk distribution having a least a …
of breast cancer, with those at the highest level of polygenic risk distribution having a least a …
The emerging field of polygenic risk scores and perspective for use in clinical care
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …
diseases. Until recently, there were no genetic testing options available for multifactorial …
Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes
Importance Rare germline genetic variants in several genes are associated with increased
breast cancer (BC) risk, but their precise contributions to different disease subtypes are …
breast cancer (BC) risk, but their precise contributions to different disease subtypes are …
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study
DF Nacer, J Vallon-Christersson, N Nordborg… - Genome Medicine, 2023 - Springer
Abstract Background Pathogenic germline variants (PGVs) in certain genes are linked to
higher lifetime risk of develo** breast cancer and can influence preventive surgery …
higher lifetime risk of develo** breast cancer and can influence preventive surgery …
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 …
(PRS313) is associated with risk of breast cancer and contralateral breast cancer. This study …
Leveraging genetic interactions for adverse drug-drug interaction prediction
In light of increased co-prescription of multiple drugs, the ability to discern and predict drug-
drug interactions (DDI) has become crucial to guarantee the safety of patients undergoing …
drug interactions (DDI) has become crucial to guarantee the safety of patients undergoing …
Interval breast cancer is associated with other types of tumors
Breast cancer (BC) patients diagnosed between two screenings (interval cancers) are more
likely than screen-detected patients to carry rare deleterious mutations in cancer genes …
likely than screen-detected patients to carry rare deleterious mutations in cancer genes …
Personalizing breast cancer screening based on polygenic risk and family history
JJ Van Den Broek, CB Schechter… - JNCI: Journal of the …, 2021 - academic.oup.com
Background We assessed the clinical utility of a first-degree breast cancer family history and
polygenic risk score (PRS) to inform screening decisions among women aged 30-50 years …
polygenic risk score (PRS) to inform screening decisions among women aged 30-50 years …
Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting
Background The role of germline genetic factors in determining survival from cutaneous
melanoma (CM) is not well understood. Objective To perform a genome-wide association …
melanoma (CM) is not well understood. Objective To perform a genome-wide association …
Lymph node metastases in breast cancer: investigating associations with tumor characteristics, molecular subtypes and polygenic risk score using a continuous …
We investigate the association between rate of breast cancer lymph node spread and grade,
estrogen receptor (ER) status, progesteron receptor status, decision tree derived PAM50 …
estrogen receptor (ER) status, progesteron receptor status, decision tree derived PAM50 …