Ambry Genetics Patient Success Story: +RNAinsight® Reveals Lynch Syndrome in Sisters
Ben Franklin once said, “An ounce of prevention is worth a pound of cure.” This applies to DNA testing for certain diseases that can be treated proactively or avoided altogether.
When symptoms or diseases appear in multiple family members, a DNA component is often involved. However, in some rare cases, the results of DNA testing alone may not be enough to explain all the symptoms. This was true for one family, with cancer diagnoses throughout multiple generations.
In this case study, Patient A has a history of breast cancer at age 35 and colon cancer at age 36. However, she pursued BRCA1/2 DNA testing only, which showed negative results. In 2020, Patient A underwent multi-gene panel testing at Ambry, failing to reveal an underlying genetic cause for her cancer history.
In 2020, Patient A’s 59- year-old sister (Patient B) was diagnosed with uterine cancer that presented with tumor characteristics usually associated with Lynch Syndrome. Like her sister, Patient B received DNA testing that was also negative.
Enter Ambry’s +RNAinsight® genetic testing. To find out what was happening to these two sisters, Patient B’s clinicians ordered Ambry’s CancerNext +RNAinsight, which revealed a deep intronic likely pathogenic variant (c.2458+976A>G) in the MSH2 gene. However, this specific variant wasn’t shown in DNA testing alone. Once paired with +RNAinsight, Patient A also discovered a hereditary predisposition for Lynch Syndrome.
Ambry’s CancerNext +RNAinsight confirmed that the two sisters have Lynch Syndrome, leading to more targeted treatment and better preventative medical management. Identification of this familial mutation also allows for predictive testing in other relatives allowing for to take control of their cancer risks. Studies have shown a 65% reduction in mortality and a 62% reduction in colon cancer incidence in patients with Lynch Syndrome with customized medical management.
Ambry’s +RNAinsight genetic testing saved lives and preserved the quality of life for this family and others.
Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, De La Chapelle A, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000 May;118(5):829-34. doi: 10.1016/s0016-5085(00)70168-5. PMID: 10784581.
Ambry Genetics Patient Success Story: +RNAinsight® Reveals Lynch Syndrome in Sisters
Ben Franklin once said, “An ounce of prevention is worth a pound of cure.” This applies to DNA testing for certain diseases that can be treated proactively or avoided altogether.
When symptoms or diseases appear in multiple family members, a DNA component is often involved. However, in some rare cases, the results of DNA testing alone may not be enough to explain all the symptoms. This was true for one family, with cancer diagnoses throughout multiple generations.
In this case study, Patient A has a history of breast cancer at age 35 and colon cancer at age 36. However, she pursued BRCA1/2 DNA testing only, which showed negative results. In 2020, Patient A underwent multi-gene panel testing at Ambry, failing to reveal an underlying genetic cause for her cancer history.
In 2020, Patient A’s 59- year-old sister (Patient B) was diagnosed with uterine cancer that presented with tumor characteristics usually associated with Lynch Syndrome. Like her sister, Patient B received DNA testing that was also negative.
Enter Ambry’s +RNAinsight® genetic testing. To find out what was happening to these two sisters, Patient B’s clinicians ordered Ambry’s CancerNext +RNAinsight, which revealed a deep intronic likely pathogenic variant (c.2458+976A>G) in the MSH2 gene. However, this specific variant wasn’t shown in DNA testing alone. Once paired with +RNAinsight, Patient A also discovered a hereditary predisposition for Lynch Syndrome.
Ambry’s CancerNext +RNAinsight confirmed that the two sisters have Lynch Syndrome, leading to more targeted treatment and better preventative medical management. Identification of this familial mutation also allows for predictive testing in other relatives allowing for to take control of their cancer risks. Studies have shown a 65% reduction in mortality and a 62% reduction in colon cancer incidence in patients with Lynch Syndrome with customized medical management.
Ambry’s +RNAinsight genetic testing saved lives and preserved the quality of life for this family and others.
Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, De La Chapelle A, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000 May;118(5):829-34. doi: 10.1016/s0016-5085(00)70168-5. PMID: 10784581.