BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

B Arun, FJ Couch, J Abraham, N Tung… - British journal of …, 2024 - nature.com
Mutations in the BRCA1 and/or BRCA2 genes (BRCAm) increase the risk of developing
breast cancer (BC) and are found in~ 5% of unselected patients with the disease. BC …

A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated …

C Forbes, D Fayter, S de Kock… - Cancer management and …, 2019 - Taylor & Francis
Purpose To conduct a systematic review of international guidelines on screening and
management of patients with BRCA-mutated breast cancer (BC). Methods Major electronic …

A population-based study of genes previously implicated in breast cancer

C Hu, SN Hart, R Gnanaolivu, H Huang… - … England Journal of …, 2021 - Mass Medical Soc
Background Population-based estimates of the risk of breast cancer associated with
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …

NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020: featured updates to the NCCN guidelines

MB Daly, R Pilarski, MB Yurgelun, MP Berry… - Journal of the National …, 2020 - jnccn.org
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and
Pancreatic provide recommendations for genetic testing and counseling for hereditary …

Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients

AW Kurian, KC Ward, N Howlader… - Journal of Clinical …, 2019 - ascopubs.org
PURPOSE Genetic testing for cancer risk has expanded rapidly. We examined clinical
genetic testing and results among population-based patients with breast and ovarian …

Population genomic screening for three common hereditary conditions: a cost-effectiveness analysis

GF Guzauskas, S Garbett, Z Zhou… - Annals of Internal …, 2023 - acpjournals.org
Background: The cost-effectiveness of screening the US population for Centers for Disease
Control and Prevention (CDC) Tier 1 genomic conditions is unknown. Objective: To estimate …

Cancer genetics, precision prevention and a call to action

C Turnbull, A Sud, RS Houlston - Nature genetics, 2018 - nature.com
More than 15 years have passed since the identification, through linkage, of 'first-
wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …

[HTML][HTML] Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical …

H Hanson, E Astiazaran-Symonds, LM Amendola… - Genetics in …, 2023 - Elsevier
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer

S Yadav, C Hu, SN Hart, N Boddicker… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE To determine the sensitivity and specificity of genetic testing criteria for the
detection of germline pathogenic variants in women with breast cancer. MATERIALS AND …

Cost-effectiveness of population-wide genomic screening for hereditary breast and ovarian cancer in the United States

GF Guzauskas, S Garbett, Z Zhou, SJ Spencer… - JAMA network …, 2020 - jamanetwork.com
Importance Genomic screening for hereditary breast and ovarian cancer (HBOC) in
unselected women offers an opportunity to prevent cancer morbidity and mortality, but the …