Multimethod Testing Strategy May Benefit Patients with Lynch Syndrome (PMS2)

Blogger's Note: Myriad had published stats whereby Lynch Syndrome mutation carriers risked a second cancer, any type of Lynch Syndrome cancer, by 50% within the first 15 years of the first cancer dx (search this blog for Myriad - this item was previously posted)

Medical news

.... The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated due to technological hurdles. “PMS2 mutations have been grossly underestimated due to technical difficulties in handling complex genomic structure. A comprehensive approach to unequivocally identify PMS2 mutations remained to be developed,” said lead investigator Lee-Jun C. Wong, PhD, who is with Baylor College of Medicine in Houston....

In January 2009, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group issued recommendations regarding genetic testing strategies in patients with newly diagnosed colorectal cancer. Although only 2% to 4% of colorectal cancers are due to Lynch syndrome, identification of these individuals is seen as a critical way to improve their own health as well as the health of their blood relatives.
Individuals with Lynch syndrome have a 16% risk of developing a second primary colorectal cancer within 10 years, and first-degree and second-degree family members with Lynch syndrome face a 35% to 45% risk of a new cancer by age 70.
 

References

1. Li J, Dai H, Feng Y, et al. (2015). A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. The Journal of Molecular Diagnostics, 17(5): 545–553.

- See more at: http://www.oncotherapynetwork.com/cancer-and-genetics/multimethod-testing-strategy-may-benefit-patients-lynch-syndrome?GUID=59A6C40A-05D9-4E87-A0FC-1850E2FF60E0&rememberme=1&ts=01092015#sthash.XlRthxX4.dpuf

.... In January 2009, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group issued recommendations regarding genetic testing strategies in patients with newly diagnosed colorectal cancer. Although only 2% to 4% of colorectal cancers are due to Lynch syndrome, identification of these individuals is seen as a critical way to improve their own health as well as the health of their blood relatives.
Individuals with Lynch syndrome have a 16% risk of developing a second primary colorectal cancer within 10 years, and first-degree and second-degree family members with Lynch syndrome face a 35% to 45% risk of a new cancer by age 70.

References
    Li J, Dai H, Feng Y, et al. (2015). A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. The Journal of Molecular Diagnostics, 17(5): 545–553.

In January 2009, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group issued recommendations regarding genetic testing strategies in patients with newly diagnosed colorectal cancer. Although only 2% to 4% of colorectal cancers are due to Lynch syndrome, identification of these individuals is seen as a critical way to improve their own health as well as the health of their blood relatives.
Individuals with Lynch syndrome have a 16% risk of developing a second primary colorectal cancer within 10 years, and first-degree and second-degree family members with Lynch syndrome face a 35% to 45% risk of a new cancer by age 70.
 

References

1. Li J, Dai H, Feng Y, et al. (2015). A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. The Journal of Molecular Diagnostics, 17(5): 545–553.

- See more at: http://www.oncotherapynetwork.com/cancer-and-genetics/multimethod-testing-strategy-may-benefit-patients-lynch-syndrome?GUID=59A6C40A-05D9-4E87-A0FC-1850E2FF60E0&rememberme=1&ts=01092015#sthash.XlRthxX4.dpuf