CDH1 germline mutation and ILC

Amelia01
Amelia01 Member Posts: 266
edited September 2018 in ILC (Invasive Lobular Carcinoma)

Hello fellow ILCs. I don't know how diffuse genetic screening is, but I was just diagnosed with the rare CDH1 mutation (hence the ILC) and wonder if it is really rare or if people just aren't getting tested. This is an interesting study.


"Our series of CDH1 mutation carriers is the largest to date and demonstrates that LBC might be the first manifestation of HDGC. A personal or family history of multiple LBCs at a young age, even without DGC, should prompt CDH1 mutation screening. It is paramount to identify mutation carriers early, so that they can benefit from prophylactic gastrectomy before they develop symptomatic, highly lethal DGC. We recommend a revision of the HDGC-defining criteria and propose for consideration the name 'Hereditary Diffuse Gastric and Lobular Breast Cancer' instead of HDGC.

https://www.ncbi.nlm.nih.gov/pubmed/23709761/ "

Scary stuff but could be life saving for those afflicted.


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Comments

  • lekker
    lekker Member Posts: 594
    edited May 2018

    Sorry for the CDH1 mutation diagnosis. Are you working with a licensed genetic counselor to figure out your next steps?

    I was tested for CDH1 (and 39 other genes - all negative for me) mutations over 5 years ago. I didn’t fit the classic hereditary diffuse gastric cancer pattern but CDH1 was included in the Broca panel I did after testing negative for BRCA mutations. I haven’t heard of automatic testing for ILC patients (the way they are automatically testing colon polyps for microsatellite instability in the hopes of identifying more cases of Lynch Syndrome) but it’s good that it’s being considered.

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  • Soccermom4force
    Soccermom4force Member Posts: 631
    edited August 2018

    Amelia01, I have a VUS on CDH1. I'm a stage 2B survivor whose pathology showed IDC and ILC. Did genetic testing in 2002 for BRCA (- result) DX in 2004, retested (-again) and tested again in 2014 when VUS was identified.

    I know how concerned you are the recommendations for prophylactic gastrectomy had me rattled.

    Hoping you have a good support system and the care you choose secures you a healthy future

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  • Meow13
    Meow13 Member Posts: 4,859
    edited August 2018

    soccermom4force, I had 1 ilc and 1idc tumors. I wonder if I should ask about this mutation. I have heard of the recommendation of stomach removal sounds really drastic to me.

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  • RyansMomma
    RyansMomma Member Posts: 18
    edited September 2018

    Hiya! Since I am young, I was just diagnosed at 19. (I'll be 20 in November.) Should I get tested for the CDH1 gene mutation? I also had a lot of stomach issues a few years before diagnosis.

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  • lekker
    lekker Member Posts: 594
    edited September 2018

    Ryansmomma - because of your age, I would think you’d qualify for a referral to speak with a Licensed Genetic Counselor. The counselor can explain all of the different things they think you should be tested for, as well as potential actions you can take if you find out you carry a harmful mutation. I’m sorry you find yourself here. Please keep us posted.

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  • RyansMomma
    RyansMomma Member Posts: 18
    edited September 2018

    Lekker: Thank you for the heads up. I'll speak with someone about it soon and will keep you updated on what happens. :)

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