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Study on Cancer Risk and Genetic Testing

Fertility Authority,  Sept 19, 2012

A recent study conducted by the Center for Human Reproduction (CHR) and published online by the journal PLoS ONE1, examined gene mutations increasing a woman’s risk for breast and ovarian cancers - with the added discovery of how human embryos with these mutations survive.

Scientists compared 99 carriers of the BRCA1 and 2 (BRCA1/2) gene mutation and over 300 subjects who were not carriers of the mutation. It was found that carriers of the mutation also had a specific genotype known as “low” FMR1, where control subjects showed normal distribution of FMR1 genotypes; only 25% of controls exhibited “low” FMR1.

The study concludes that the low FMR1 genotypes found almost exclusively in BRCA1/2 carriers might indicate that women without low FRM1 do not share the BRCA1/2 mutation and therefore are not as high risk for breast and ovarian cancer as their study counterparts.

David H. Barad, MD, MS, Director of Clinical ART and Senior Scientist at CHR credits these findings for potential advancements in healthcare. “This observation, if confirmed, can greatly impact current cancer screening methods for BRCA1/2-associated cancers in women, and greatly reduce costs.”

Until now, the only available breast and ovarian cancer screening at the genetic level is through BRCA1/2 gene testing. With an average cost of $3,000, it is not surprising that this test has been recommended only for women with strong family history of breast or ovarian cancer. The implementation of FMR1 testing, averaging around $400, offers a low cost early intervention - a vast advancement for the medical community.

Prior to this study, researchers could not understand how women were presenting with breast and ovarian cancer resulting from a BRCA1/2 mutation. This is because an embryo with the BRCA1/2 mutation by itself would not survive. The missing link, however, is the simultaneous presence of the low FMR1 allele which combined with BRCA1/2 mutation is able to bypass the biological mechanism that would halt growth in these embryos. Simply stated, the BRCA1/2 mutation would prevent an embryo from passing through the gate of development, but the FMR1 allele acts as a hall pass, allowing even cancerous tissue to grow. These important findings will equip doctors with unprecedented tools for cancer screening and prevention.


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