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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


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


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.

Gail Embry's picture

Hello, I'm a 70 year old female with Lynch Syndrome. I have two children who tested negative for Lynch. I have two cousins with Lynch also. One has no children. The other cousin has two children, and one tested positive for Lynch. I had uterine cancer at age 36, and 40% of my colon removed at age 60 (due to 5 tubular adenomas over 3 colon oscopies in the same part of my colon). I get annual colonoscopies, and EGDs either other year to look for esophageal, stomach and duodenal cancers. I'm half French Canadian. The Lynch runs back at least 5 generations on my French Canadian side. I drew up a medical pedigree, and the Genecist who reviewed it said my family had more incidences of related cancers than the three families who defined Lynch Syndrome. That was in the 1990's and it upset me a little bit. But then, everyone in my family with Lynch lives a long life, with 3-4 cancer surgeries. We just go on afterward. It's normal for us.

DAVID Dubin's picture

Very similar.  While it's not an easy situation to have so many have multiple cancers, there is consolation when people in the family are able to live longer productive lives post-surgeries.  Unfortunately, not everyone is that fortunate.  The more data we're able to aggregate on Lynch, the better we're able to do research and educate.  

Linda Wallace's picture

This study is very frustrating since the Lynch panel is not included so many patients will fall thru the cracks. Also there are breast cancers caused by Lynch but we’ll never know if this limited genetic testing becomes the standard. I’m one of those who was only tested for BRCA only at diagnosis which was negative. Skin and endometrial cancers and Lynch Dx five years later. Much more comprehensive multigene panels should be the standard like Invitae Multi-Cancer or Myriad MyRisk - not what this study is suggesting: BRCA1, BRCA2, and PALB2 only for breast cancer patients:

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