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 MoreThe BRCAscoop 2011 Hereditary Breast and Ovarian Cancer Research Report – Get Your Copy Now!
Are you a BRCA1 or BRCA2 mutation carrier? Or perhaps you know one – maybe a friend or family member? If so, you or someone you know may be interested in the following information. We are pleased to announce the widespread availability of The BRCAscoop 2011 Hereditary Breast and Ovarian Cancer Research Report for immediate download. It’s a wonderful way for BRCA1 and BRCA2...
Read MoreBreastfeeding – Another Reason for BRCA1 Carriers to Strongly Consider It
The FORCE Facebook page posted a link to a new study led by Dr. Steven Narod and colleagues that examines the impact of breastfeeding on breast cancer risk in BRCA1 and BRCA2 carriers. The new study is an important contribution to the research literature in this area, so we thought it would be worth discussing in some detail. First, let’s go over some of the known benefits of...
Read MoreA Reminder from Norway that Breast Cancer Rates for BRCA1 Carriers Can Vary with Age
Estimated breast cancer risks for women with BRCA1 mutations vary significantly depending on whether they are based on studies conducted in highly selected cancer genetics clinic-based BRCA1 families (risk estimates generally on the high end) or in studies focused on women with BRCA1 mutations drawn from the general population (risk estimates generally on the low end). This is likely because...
Read MoreAbraxas – a New Breast Cancer Risk Gene in Some BRCA Negative Families
If you know anyone with a significant personal and/or family history of breast cancer who was tested for BRCA1/2 mutations and found to be BRCA negative, they may be interested in this information about a new breast cancer risk gene – Abraxas – relevant to some BRCA negative families. (Note: we’ve covered the new research about Abraxas and familial breast cancer at...
Read MoreMost Important BRCA1/BRCA2-Related Research Papers of 2011 – Nomination #3
Here is the 3rd of 15 nominations from which we will select the final 10 research papers discussed in the BRCAscoop 2011 Hereditary Breast and Ovarian Cancer Research Report. Kurian AW, Gong GD, John EM, et al. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry. Journal of Clinical Oncology 2011; 29:4505-9. For more...
Read MoreMore Evidence From an Israeli Study that Breast Cancer Risk is Not Increased in Noncarriers of Family-Specific BRCA1/2 Mutations
We recently mentioned a new study looking at the risk of breast cancer in women testing negative for a known BRCA1 or BRCA2 mutation in their family. Another relevant study was just published. Dr. Eitan Friedman and colleagues have looked at breast cancer rates in non-carriers of familial BRCA1/BRCA2 mutations in Jewish families identified at the Chaim Sheba Medical Center. Their study suggests...
Read MoreNew Answer in Our Q&A Section to a Reader Submitted Question
We’ve posted an answer to a reader-submitted question in the BRCAscoop Q&A Section. A reader whose father apparently has deleterious mutations in both the BRCA1 and BRCA2 genes asked whether it is possible that he/she could have avoided inheriting at least one of those mutations. For the answer, check out our Q&A section or send us your own question below! _____ Ask Your Own...
Read MoreBreast Cancer Risk in Women Testing Negative for a Familial BRCA1 or BRCA2 Mutation
If you have a BRCA1 or BRCA2 mutation, you presumably heard in your genetic counseling session that other members of your family have an opportunity to be tested for the mutation that you have, and that this testing can help to clarify their risk for breast, ovarian and other cancers. Women found to have the family-specific BRCA mutation can pursue more aggressive screening and preventative...
Read MoreEvidence That SNP in microRNA-146a Gene Does Not Meaningfully Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
microRNAs can affect the amount of proteins that are produced from our genes (more on microRNAs in our online glossary here at BRCAscoop soon). Previous preliminary evidence from relatively small studies had suggested that a SNP (single nucleotide polymorphism) in the gene for the microRNA miR-146a impacted the age of onset of familial breast and ovarian cancer. In a new study, several authors...
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