Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Veliparib with carboplatin and paclitaxel in BRCA-mutated advanced breast cancer (BROCADE3): a randomised, double-blind, placebo-controlled, phase 3 trial

V Diéras, HS Han, B Kaufman, H Wildiers… - The lancet …, 2020 - thelancet.com
Background BRCA1 or BRCA2-mutated breast cancers are sensitive to poly (ADP-ribose)
polymerase (PARP) inhibitors and platinum agents owing to deficiency in homologous …

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement

DK Owens, KW Davidson, AH Krist, MJ Barry… - Jama, 2019 - jamanetwork.com
Importance Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes
(BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

TR Rebbeck, TM Friebel, E Friedman… - Human …, 2018 - Wiley Online Library
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

Growing use of contralateral prophylactic mastectomy despite no improvement in long-term survival for invasive breast cancer

SM Wong, RA Freedman, Y Sagara, F Aydogan… - Annals of …, 2017 - journals.lww.com
Objective: To update and examine national temporal trends in contralateral prophylactic
mastectomy (CPM) and determine whether survival differed for invasive breast cancer …

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of …

A Antoniou, PDP Pharoah, S Narod, HA Risch… - The American Journal of …, 2003 - cell.com
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer,
but the average magnitude of these risks is uncertain and may depend on the context …

[HTML][HTML] Epidemiology and prognosis of breast cancer in young women

HA Assi, KE Khoury, H Dbouk, LE Khalil… - Journal of thoracic …, 2013 - ncbi.nlm.nih.gov
Breast cancer is the most common malignancy in women with 6.6% of cases diagnosed in
young women below the age of 40. Despite variances in risk factors, Age Standardized …

[KİTAP][B] Overdiagnosed: making people sick in the pursuit of health

HG Welch, L Schwartz, S Woloshin - 2012 - books.google.com
An exposé on Big Pharma and the American healthcare system's zeal for excessive medical
testing, from a nationally recognized expert More screening doesn't lead to better health …