Monday, November 17, 2008

Implications of BRCA1 gene mutation as it relates to In The Family and otherwise...

In preparation for our screening of Joanna Rudnick's documentary, In The Family, I wanted to pass along some information and links to recent articles written on the subject. Although the film is centered around a female of jewish descent, it bears mentioning that surprising new studies have shown the BRCA mutations to have revelance to a wide range of ethnicities, and affects men with prostate and breast cancer as well. On an even larger scale, the documentary points to the dilemmas associated with gene patenting, disclosure, and genetic mutations in general-whether it be a BRCA mutation, or otherwise. The following list of links are by no means all-inclusive, and I invite any and all to add and expand upon those attached below as we try to better understand the gene mutation before Thursday. Thanks.


BRCA1 stands for "breast cancer 1, early onset," and belongs to a class of genes known as tumor suppressors. Like most tumor suppressors, the protein produced by the BRCA1 gene helps prevent cells from dividing too rapidly or erratically. Specifically, the BRCA1 gene is essential for providing instructions for producing proteins involved in repairing damaged DNA. To date, researchers have identified more than 1,000 mutations of the BRCA1 gene, most of which are associated with an increased risk of breast cancer.


As the article linked above asserts, a family's medical history may be a more accurate indicator than genetic screening for breast cancer. Although BRCA1 and BRCA2 are considered aggressive hereditary mutations, the problem emerges when female relatives test free of the mutation in the belief they are not still at risk. Dr. Steven Narod stresses, "family history is a much stronger predictor regardless of what gene tests show." Of 1,500 women tested from 365 cancer-prone families who had nonetheless tested negative for both mutations, the group still had a four-fold higher risk thatn average women of developing breast cancer. The report goes on to remind that the $3,000 BRCA tests are still generally well accepted but newer tests will be available soon that will be more available, less expensive, and hopefully, more accurate.

In the meantime, I would argue that the importance of sitting down with one's family and hashing out the good, the bad and the ugly of shared medical history cannot be over- emphasized.


Traditionally, the BRCA1 mutation has been to known to be more prevalent for Ashkenazi Jews, and recent studies have shown that Ashkenzi women with breast cancer had the highest BRCA1 mutation of the ethnic groups studies, at around 8.3%. However, the same study (cited below) also showed the mutation is widespread among Hispanics and young black women as well. A research scientist at the Northern California Cancer Center in Fremont and assoc. professor of health research/policy at Stanford, Ester John reported that Hispanic women had a higher chance of carrying the BRCA1 mutation than caucasian women, but that young black women carried the most alarming rate. For all black women the rate of the BRCA1 mutation was 1.3%, however of that subsection under 35 who had breast cancer, the rate skyrocketed to 16.7%.

John's research appears to be backed up by Dr. Christine Pellegrino (NYC) who said that the findings mirror what she's seen in her clinical practice. Pellegrino supports a widespread program of genetic counseling for young patients and genetic screening for all women and female relatives who develop breast cancer at an early age.

Given that the 2007 findings were surprising to even the specialists, it might not be overly presumptive to encourage screening for women with known, higher than usual rates of risk for breast cancer. In realizing that option is more or less taking the easy answer, I still would rather error on the side of caution and too much data, rather than not enough.



Men with a strong family history of prostate or breast cancer also experience BRCA related dangers. As cited by the attached link below, prostate cancer caused by a BRCA2 gene mutation are more than twice as likely to die from the genetic disease than those carrying the fault BRCA1 gene mutation. The study found that carriers of the BRCA2 gene were found to live for an average of four years compared to an average of eight years for BRCA1 carriers. While the information is unsettling, it does help to tailor future therapies and treatments, especially in treating the lethal BRCA2 mutation.

Again, the above articles and information is a slim fraction of what is available on the BRCA mutations and I invite anyone to supplement this thin offering. Thanks, JWD.

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