Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies
F Aloraifi, D McCartan, T McDevitt, AJ Green… - Cancer genetics, 2015 - Elsevier
Several “moderate-risk breast cancer susceptibility genes” have been conclusively
identified. Pathogenic mutations in these genes are thought to cause a two to fivefold …
identified. Pathogenic mutations in these genes are thought to cause a two to fivefold …
[HTML][HTML] Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes
Background Breast cancer has a significant heritable basis, of which∼ 60% remains
unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk …
unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk …
Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer
Purpose Testing for germline mutations in BRCA1/2 is standard for select patients with
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …
[HTML][HTML] Gene panel screening for insight towards breast cancer susceptibility in different ethnicities
MR Bishop, SM Omeler-Fenaud, ALW Huskey… - PLoS …, 2020 - journals.plos.org
African American breast cancer genetics is less understood compared to European
American breast cancer susceptibility. Despite the many advantages of gene panel …
American breast cancer susceptibility. Despite the many advantages of gene panel …
Panel testing for familial breast cancer: calibrating the tension between research and clinical care
ER Thompson, SM Rowley, N Li, S McInerny… - Journal of Clinical …, 2016 - ascopubs.org
Purpose Gene panel sequencing is revolutionizing germline risk assessment for hereditary
breast cancer. Despite scant evidence supporting the role of many of these genes in breast …
breast cancer. Despite scant evidence supporting the role of many of these genes in breast …
[HTML][HTML] Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
Background Concurrent germline (g) pathogenic variants related to hereditary breast cancer
represent a rare occurrence. While double heterozygosity in gBRCA1 and gBRCA2 has …
represent a rare occurrence. While double heterozygosity in gBRCA1 and gBRCA2 has …
[HTML][HTML] Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico
J Dutil, JK Teer, V Golubeva, S Yoder, WL Tong… - Scientific reports, 2019 - nature.com
Inherited pathogenic variants in genes that confer moderate to high risk of breast cancer
may explain up to 50% of familial breast cancer. This study aimed at identifying inherited …
may explain up to 50% of familial breast cancer. This study aimed at identifying inherited …
[引用][C] Searching for susceptibility alleles: emphasis on bilateral breast cancer
EN Imyanitov, CJ Cornelisse… - International journal of …, 2007 - Wiley Online Library
A positive family history is one of the most firmly established risk factors for breast cancer
(BC). Women with at least one firstdegree relative with BC have an 1.8-fold risk to develop …
(BC). Women with at least one firstdegree relative with BC have an 1.8-fold risk to develop …
Segregation analysis of 231 Ashkenazi Jewish families for evidence of additional breast cancer susceptibility genes
DJ Kaufman, TH Beaty, JP Struewing - Cancer Epidemiology Biomarkers & …, 2003 - AACR
Between 5 and 10% of breast cancer is attributable to inherited cancer susceptibility genes.
Mutations in the genes BRCA1 and BRCA2 account for two-thirds of hereditary breast …
Mutations in the genes BRCA1 and BRCA2 account for two-thirds of hereditary breast …
[HTML][HTML] Pathogenic germline variants in patients with breast cancer: conversations across generations, practices and patients' attitude
H Abdel-Razeq, R Mustafa, S Abdel-Razeq… - Frontiers in …, 2023 - frontiersin.org
Background: Breast cancer susceptibility genes such as BRCA1, BRCA2, PALB2, CHEK2
and many others are increasingly recognized among our patient population. In addition to …
and many others are increasingly recognized among our patient population. In addition to …