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Lynch Genes and Cancer Risks

Ann Chang's picture

What questions do you think need more research about how different Lynch Syndrome genes may be at higher risks for certain cancers more than others? 

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Robin Dubin's picture

Do we need to look at the varying risks for different tumor locations for each gene or is it more important to understand the underlying tumor make up (MSI status, etc.) regarless of the location of the tumor?

DAVID Dubin's picture

Tumor location is always important, but more and more it seems that tumor makeup is almost as important.  They both need to be addressed.

Lindsey Van Parys's picture

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Linda Wallace's picture

More research is needed into the connection between Lynch and breast cancers as well as need for MSI testing of all breast cancers as there is now for endometrial and colon. If that is done routinely the connection will become obvious and variants of higher risk known definitely. I was diagnosed with breast cancer 5 years before I found out I was Lynch - it was triple negative but I don't know if it was Lynch because it wasn't tested. I was tested for BRCA only at the time which was negative. Clearly I fell between the cracks because MSI and full genetic testing are not standard for breast cancer. Two years after breast cancer I had basal cell carcinoma and then three years later endometrial cancer and finally MSI and Lynch diagnosis - three different cancers in five years.

Heather Hampel's picture

Linda,

I agree that this is a controversial topic that will require more research. There was just a research study presented at the Collaborative Group of the Americas for Inherited Gastrointestinal Cancers (called CGA for short, this is a multi-disciplinary organization of healthcare providers with an interest in Lynch syndrome and other inherited GI cancer syndromes) that showed NO increased risk for breast cancer among individuals with Lynch syndrome tested at another large genetic testing laboratory. This contrasts with the study from a different lab last year that did show a link. It's such a common cancer with 1 in 8 women developing it during their lifetime that many women with Lynch syndrome are bound to get breast cancer by chance alone but proving that it was caused by the Lynch syndrome is difficult. One small study of around 30 breast cancers from women with LS found that half of them were caused by the LS (had abnormal IHC or MSI) and half were not. However, typically when researchers simply count the number of breast cancer cases in large numbers of LS families, they do not see an excess over what would be expected by chance alone. Quite the enigma! Will definitely require more research.

Katt's picture

I agree that more testing of breast tumors in Lynch syndrome mutation carriers needs to be done. My sister-in-law, who is an obligate carrier for an MLH1 pathogenic variant, had two synchronous, right sided colon cancers at 28 and breast cancer at 43.

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