If you have a compelling family history of ovarian cancer that is not explained by a mutation in the BRCA1 or BRCA2 gene, it is possible that a mutation in the RAD51D gene could be the explanation.
RAD51D – A New Hereditary Ovarian Cancer Gene With Important Implications
Filed Under: BRCA1, BRCA2, Cancer Genetics, Cancer Prevention, Cancer Screening, Family History, Hereditary Breast and Ovarian Cancer, Ovarian Cancer, PARP Inhibitors, RAD51D, Risk-Reducing Salpingo-Oophorectomy Tagged: BRCA1, BRCA2, familial ovarian cancer, hereditary ovarian cancer, ovarian cancer, ovarian cancer prevention, ovarian cancer risk, ovarian cancer treatment, PARP inhibitors, RAD51D
More on the Woman Who Filed an EEOC Complaint Claiming She Was Fired Over a Genetic Test Revealing a BRCA2 Mutation
The internet is abuzz with all kinds of information related to the case that we discussed yesterday here inovolving a Connecticut woman, Pamela Fink, who has filed a complaint with the EEOC and others alleging genetic discrimination under GINA (Genetic Information Nondiscrimination Act) . She states that her former employer, MXenergy, fired her because of a genetic test that revealed that she carried a mutation in the BRCA2 gene, which confers very high lifetime risks of breast and ovarian cancer.
Video is beginning to emerge (thanks to Nature News for pointing us in this direction) with more information about the case.
Filed Under: BRCA1, BRCA2, Breast Cancer, Cancer Genetics, ELSI (Ethical, Legal, and Social Issues), Family History, GINA, Hereditary Breast and Ovarian Cancer, Ovarian Cancer, Prophylactic Mastectomy Tagged: BRCA2, breast cancer risk, EEOC complaint, Family History, Fox61, Genetic Information Nondiscrimination Act, GINA, HBOC, Hereditary Breast and Ovarian Cancer, ovarian cancer risk, prophylactic mastectomy, video
Myriad Genetics Has Raised The Price for BRCA1 and BRCA2 Testing: North of $4,000 Now
The Yale Cancer Genetic Counseling blog notes that on April 1, Myriad reportedly raised the full price for full sequencing and rearrangement testing of the BRCA1 and BRCA2 genes to $4,040 (from $3,770).
Woman Files Complaint Claiming She Was Fired Over Positive BRCA2 Test for Hereditary Breast and Ovarian Cancer
In one of the first complaints filed related to the Genetic Insurance Nondiscrimination Act, a Connecticut woman has filed complaints with the U.S. Equal Opportunity Commission and the Connecticut Commission on Human Rights and Opportunities. According to the Boston Herald, Pamela Fink, 39, of Fairfield, Connecticut, alleges that her employer, MXenergy fired her after she disclosed to them that she had a mutation in the BRCA2 gene (which confers hereditary breast and ovarian cancer susceptibility).
Filed Under: BRCA1, BRCA2, Breast Cancer, Cancer Genetics, Cancer Prevention, ELSI (Ethical, Legal, and Social Issues), GINA, Hereditary Breast and Ovarian Cancer, Ovarian Cancer, Prophylactic Mastectomy Tagged: bilateral mastectomy, BRCA2, breast cancer, double mastectomy, firing, genetic discrimination, Genetic Insurance Nondiscrimination Act, genetic test, GINA, ovarian cancer, prophylactic mastectomy
RAD51C: A New Hereditary Breast and Ovarian Cancer Gene
If you have a compelling family history of breast and ovarian cancer that is not explained by a mutation in the BRCA1 or BRCA2 gene, it is possible that the RAD51C gene could be the explanation. An international research team demonstrated that mutations in RAD51C can lead to hereditary breast and ovarian cancer risk in a paper published online in Nature Genetics yesterday.
Filed Under: BRCA1, BRCA2, Breast Cancer, BRIP1, Cancer Genetics, Common Disease, Rare Gene/Rare Allele Hypothesis, Family History, Fanconi Anemia, Hereditary Breast and Ovarian Cancer, Ovarian Cancer, PALB2, RAD51C Tagged: BRCA2, breast cancer, BRIP1, cancer susceptibility, cancer susceptibility gene, fanconi anemia, Germany, Hereditary Breast and Ovarian Cancer, high througput sequencing, next generation sequencing, ovarian cancer, PALB2, RAD51C, RAD51C Breast Cancer, RAD51C Ovarian Cancer
Stephen Colbert on Gene Patenting and Implications of Myriad Case
The invalidation of Myriad Genetics’ patents related to testing of the BRCA1 and BRCA2 genes is no laughing matter for those on either side of the issue. Nevertheless, Stephen Colbert’s take on this is worth a look!
Breast Cancer Gene Patenting Lawsuit Pitting ACLU, ACMG and Others Against Myriad Genetics and University of Utah Research Foundation Will Continue
A judge refused to throw out the lawsuit which could plausibly have broad implications for gene patenting…but seems more likely to me to be posturing to encourage a political/legislative solution. Ars Technica has excellent coverage here.
Mechanism of Cisplatin-Resistance in BRCA2-Related Ovarian Cancers
Two papers published online today in the journal Nature (abstracts available here and here) show us why this is the case at least in a subset of cases in individuals with BRCA2 mutations.
Filed Under: BRCA2, Breast Cancer, Cisplatin, Hereditary Breast and Ovarian Cancer, Molecularly Targeted Therapy, Ovarian Cancer, PARP Inhibitors Tagged: BRCA1, BRCA2, breast cancer, chemotherapy resistance, Cisplatin, Hereditary Breast and Ovarian Cancer, homologous recombination, ovarian cancer, PARP, PARP-inhibitor, platinum, treatment resistance
Prophylactic Mastectomy for a BRCA Mutation: One Woman’s Perspective
Worth reading:
Daily Beast Writer, Lizzie Stark’s perspective on her prophylactic mastectomy for a BRCA mutation, “Good-Bye to My Breasts”