reports on the findings by researchers from the University of Rochester School of Medicine that BRCA 1/2 genetic testing of women at high risk of carrying the BRCS 1 or 2 gene mutations, and treatment of those who test positive, seems to be cost effective compared with no genetic testing....
[Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing m...
Waltham, MA) was used, enabling the detection of 161 cancer-related genes and identification of single nucleotide variants (SNVs), copy number variations (CNVs), gene fusions, and indels.
[Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene screening, particularly in high-risk individuals with a family history...
doi:info:doi/10.1111/j.1445-2197.2007.04114_19.xFirgaira, F.ANZ Journal of Surgery
[关键词]专家共识;BRCA1;BRCA2;同源重组;突变筛查;二代测序;胚系突变 [Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a...
Study participants were surveyed to determine travel time and need for dependent care during counseling. The test cost was calculated using the charge for full BRCA1/2 gene sequencing (Myriad Genetics, Inc.) multiplied by a Medicare-based cost-to-charge ratio. Counselors spent an average of 4.2...
The lower pathways in the "no gene screening" section reflect the choice of not having genetic testing when a mass screening program exists, which is 1 Ϫ P0. The population mutation carrier rate (P1) is 0.025.16–19 We do not differentiate between the value of P1 for gene screening ...
In order to encourage testing for the most at-risk, women are currently advised to test for theBRCA1/2gene mutation if a family member has tested positive for it, or if a close relative has been diagnosed with cancer (Moyer, 2014; National Cancer Institute, 2013). Guidelines also establish...
breast cancer families, we identified possible disease-associated alter- ations in a total of 29 (37.2%) cases: 13 different alterations in the BRCA1 gene were seen in 15 of these families (19.2%) and 13 different alterations in the BRCA2 gene in the other 14 (17.9%) (Table␣ 1)....