Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants
Importance Detection of disease-associated variants in theBRCA1andBRCA2 (BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives …
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives …
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of
breast, ovarian, and other cancers, but most variant-positive individuals in the general …
breast, ovarian, and other cancers, but most variant-positive individuals in the general …
Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants
Y Momozawa, R Sasai, Y Usui, K Shiraishi… - JAMA …, 2022 - jamanetwork.com
Importance The clinical importance of genetic testing ofBRCA1andBRCA2in breast, ovarian,
prostate, and pancreatic cancers is widely recognized. However, there is insufficient …
prostate, and pancreatic cancers is widely recognized. However, there is insufficient …
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel
N Tung, C Battelli, B Allen, R Kaldate, S Bhatnagar… - Cancer, 2015 - Wiley Online Library
BACKGROUND Next‐generation sequencing (NGS) allows for simultaneous sequencing of
multiple cancer susceptibility genes and, for an individual, may be more efficient and less …
multiple cancer susceptibility genes and, for an individual, may be more efficient and less …
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 …
(BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and …
Factors Associated with Decisions about Clinical BRCA1/2 Testing
K Armstrong, K Calzone, J Stopfer, G Fitzgerald… - … Biomarkers & Prevention, 2000 - AACR
Testing for mutations in BRCA1 and BRCA2 can provide important information about breast
and ovarian cancer risk to a small but identifiable subgroup of women. Women who test …
and ovarian cancer risk to a small but identifiable subgroup of women. Women who test …
[HTML][HTML] Multi-gene panel testing of 23,179 individuals for hereditary cancer risk identifies pathogenic variant carriers missed by current genetic testing guidelines
CL Neben, AD Zimmer, W Stedden… - The Journal of Molecular …, 2019 - Elsevier
Recent advancements in next-generation sequencing have greatly expanded the use of
multi-gene panel testing for hereditary cancer risk. Although genetic testing helps guide …
multi-gene panel testing for hereditary cancer risk. Although genetic testing helps guide …
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold… - PLoS …, 2013 - journals.plos.org
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: updated evidence report and systematic review for the US Preventive …
Importance Pathogenic mutations in breast cancer susceptibility
genesBRCA1andBRCA2increase risks for breast, ovarian, fallopian tube, and peritoneal …
genesBRCA1andBRCA2increase risks for breast, ovarian, fallopian tube, and peritoneal …