The 3 Common Ashkenazi Jewish Mutations in BRCA1/2: A Large Study of Cancer Risk and Risk Reduction
Many people are unaware that the frequency of BRCA1 and BRCA2 mutations in Ashkenazi Jews is ~1 in 40. This relatively high rate significantly impacts the Jewish community and is due to 3 common founder mutations: BRCA1 c.68_69delAG (often referred to as 185delAG or 187delAG) BRCA1 c.5266dupC (often referred to as 5382insC or 5385insC) BRCA2 c.5946delT (often referred to as 6174delT) Because...
Read MoreA New Online Tool for BRCA1 and BRCA2 Carriers
It’s great to have advanced to the point where women with risk for Hereditary Breast and Ovarian Cancer have important decisions to make about cancer prevention and screening that meaningfully impact their lives. Nevertheless, the decision-making is still fraught with challenges – whether it occurs in the context of advice from a high risk breast and ovarian cancer prevention clinic...
Read MoreMost Important BRCA1/BRCA2-Related Research Papers of 2011 – Nomination #6
Here is the 6th of 15 nominations from which we will select the 10 most important research papers for BRCA1/2 carriers discussed in the BRCAscoop 2011 Hereditary Breast and Ovarian Cancer Research Report: Dhar SU, Cooper HP, Wang T, et al. Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers. Breast Cancer Research and Treatment 2011;...
Read MoreDoes Your Primary Care Physician Know About Your BRCA1/BRCA2 Test Result?
There are a number of scenarios in which people may pursue BRCA1 and BRCA2 gene testing to determine whether they may have Hereditary Breast and Ovarian Cancer (HBOC) susceptibility, including a significant personal or family history of cancer or having a family member with a known BRCA1 or BRCA2 mutation. The testing can occur in many different settings: At a tertiary (often academic) center...
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