Timothy Pearman Ph.D.Springer New YorkPearman T. Psychological implications of testing positive for the BRCA gene. In: Hansen NM, editor. Management of the patient at high risk for breast cancer. New York: Springer Science & Business Media; 2013. p. 155-60....
% Knowledge and communications regarding BRCA genetics Read "fair amount or a lot" about genetic testing for breast cancer (n ϭ 208) 36 17.3 Answered Ͼ50% of true/false questions correctly (n ϭ 217) 56 25.8 Correctly answered "true" Women without altered BRCA gene can still get ...
BRCA1andBRCA2were identified in the 1990s as genes linked to inherited susceptibility to breast cancer1,2. As tumor suppressor genes, they encode proteins that are crucial for the repair of complex DNA damage (such as double-strand breaks) by homologous recombination3. Germline mutations (i.e....
Genetic counseling and testing for the offspring are recommended once they reach adulthood.Patient 24000763, diagnosed with TNBC at the age of 32, underwent NGS using the 94-gene cancer panel as above mentioned. The results identified a PV in the BRCA2 gene (c.2808_2811delACAA). Her ...
Little is known about how the breast cancer (BRCA) gene mutation affects women’s decision-making processes. I use a feminist standpoint lens to explore the process by which BRCA-positive women came to socially construct and understand their risk for developing breast and/or ovarian cancer and ...
A positive test result forBRCA1/2gene mutation is a substantial risk factor for breast and ovarian cancer. However, testing is not always covered by insurance, even for high risk women. Variables affecting willingness to pay (WTP) have implications for clinic-based and direct-to-consumer testing...
Moreover, the causal role of a specific gene is typically less direct than in CF. Suppose a woman from the general population, who is not otherwise at risk for breast cancer, tests positive for theBRCA1gene. She is likely to be told that she has an 85% lifetime risk of developing bre...
Breast and Ovarian Cancer Susceptibility Gene Testing: Not considered medically necessary for individuals less than 18 years of age. Asymptomatic individuals with a family history that meets criteria for testing, who do not have a causative variant already identified, should not rely solely on BRCA1...
Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2 -negative women...
The BRCA1 and BRCA2 gene mutations put women at high risk for breast, ovarian and other cancers, but mutations of other genes are believed to confer extra risk as well. Earlier this year, 17 genetic experts argued against testing for a wider panel of breast cancer-related gene mutations unt...