CDH1 Gene Mutation for Stomach Cancer in the Bradfield Family
A mutation in the CDH1 gene, which makes E-cadherin, is associated with an increased risk of stomach cancer. Many members of the Bradfield family carry the mutation and developed stomach cancer. Their story is featured in the Stanford Report and it tells of their decision to undergo genetic testing for CDH1. All 11 of those who tested positive had their stomachs removed via gastrectomies before cancer developed.
In the end, all 11 cousins who inherited the CDH1 mutation went ahead with the gastrectomy. Before the surgeries at Stanford, doctors ran a battery of tests to detect potential tumors. They peered into the stomach via endoscopy, took random biopsies to test for cancerous cells, checked for cancerous cells in the stool and examined the stomach by PET and CT scans—all with negative results. Yet once the stomachs were removed and new tests conducted, doctors found hundreds of early tumors in nine of the cases—the six at Stanford and three others. The remaining two cases were not yet available for review by doctors at Stanford.
What these results tell Ford is that without a gastrectomy those tumors might have spread to other organs and become untreatable by the time they were discovered. He said these results highlight the importance of removing the stomach in people with the CDH1 mutation rather than relying on screening to catch the cancer in time to save the person’s life.
The Bradfield family’s story is a shining example of how genetic technology has improved people’s lives.
Technorati Tags: cancer, stomach cancer, gastrectomy, cdh1 gene, genetics, genes, dna, disease, health
The E-cadherin gene has recently been identified within my family (Stojko), with 4 out of 5 siblings testing postive to having the gene, other family members undergoing or contemplating genetic testing. We would be very grateful if we could be put in touch with other families, like the Bradfield family; please pass on my details or reply letting me know how I can try and contact any members of the family. Thankyou very kindly.
Tammy: Perhaps you’d like to contact the Bradfield family’s surgeon, Dr. Jeffrey A Norton at (650)724-3009. Here’s his physician information page at Stanford. All the best to you and your family.
My sister had her stomach removed due to stomach
cancer. She is 44 years young.
Her 23 yr old daughter had 70% of her colon removed.
Our grandfather died @ 46 of colon cancer.
How can we be tested to see if the gene is in our family. I’m very concerned, I have 3 sons.
THanks,
Terri
Terri: I’m sorry hear about your family. I would suggest you ask your family physician to recommend a genetic counselor who will be able to provide more background information on the genetics of these various cancers as well as offer genetic testing if appropriate.
All the best.
Clinical Molecular Diagnostic Lab at City of Hope national medical center offer the full mutation analysis.
Tammy,
I’m one of the Bradfield cousins who is positive for the gene. I have had the gastrectomy. Please feel free to contact me. I can be reached through information in Irving, TX.
Mike: Thanks for stopping by and offering to help.
For anyone else coming along, look for a future Genetics and Health interview with Mike.
Hi, after hearing about my 38 year old cousin who has very advanced cancer in her stomach, colon, and liver, I decided to research about your families’ cancer to see what more I can do to help mine. We have already been in a gene study here in Omaha, NE with Dr. Lynch, Creighton University. The genetic disease is called (FAP) Familia Polyposus. Please excuse the spelling, I am not quite sure the correct spelling. At a young age I found out that I do not have the gene, however, my sister does. What a bitter sweet day. Now the day is here and we fear the day when we hear the news of her having cancer. The odds are GREAT unless we get more research done and help. She has hundreds of polyps in her stomach and a couple on her ampula. She goes every year to be checked but hearing about your story makes me think that having check ups is not enough. My cousin got check ups and her cancer is so advanced. This gene is so strong that only 3 out of the 9 grandkids of my grandma Alice does not have the gene. The gene is so bad that my uncle’s children decided not to have kids so they can end the gene. That makes me sad because I believe that the Lord wants his children to have families. With the news of my cousin, has now opened a new door to the past research done on our family becuase her cancer is so rare for this gene. It makes me think if there is something more to this gene than what the doctors thought. My sister and cousin have children whom they both want to watch grow up and be a part of their lives. It scares me to death to think of my nieces possibly growing up without their mother. I was a baby when my father died and I have always had this deep desire to know my father and remember him in any slight way. I fear this for my youngest niece and don’t want this to happen to her and for her to not have memories of her sweet mother. My prayer is for a miracle for some hospital or research center to hear about our family and help us. Reading your article about living in fear every day of your life, is what my sister and family members will be facing for the rest of their lives. I have prayed for the Lord to lead me in a direction of helping my family, and I feel this is the first step. I would appreciate it if you could email me back about how you can get in a more renounced study or get more help. I would be willing to call someone to get advice on what I should do for our hereditary cancer gene. I am sure you hear of many families who have sad stories like this, but I’m am praying that with the Lord’s help and his will that he will provide some direction and help for this disease. Thanks for your story and giving my family hope! God Bless,
Kandi Heuton
Kandi: Thank you for your heartfelt comment. I will be sure to pass on your info to Mike Slabaugh. All the best to you and your family.
Tammy,
Please contact Dr. Henry Lynch at Creighton University in Nebraska or Dr. David Huntsman at the BCCA (British Columbia Cancer Agency). Both of them are on the research team that developed the test for the CDH-1 Mutation.
In the meantime you may want to go here to find out more:
http://health.groups.yahoo.com/group/HDGC/
Like some of my cousins from the Bradfield family, I am a member of that group. Feel free to join us for updates from other members on their experience with this.
Mike Slabaugh
a Bradfield cousin
I was diagnosed with stomach cancer at tha age of 32 in 1990. After a readical gastrectomu (82%) and 6 months of chemo therapy I survived 15 years on a partial man-made pouch. In 2005 I was diagnosed with still another malignancy in the “pouch.” All of my stomach was removed at that time. I had the genetic study done through Dr. David Huntsman in Canada and I did test positive for the CDH1 mutation. My three children are only 19, 22, and 24 and are terrified. Please advise as to how I shold approach their testing. Do I report it to the insurance companies…do I let Dr. Huntsman do theirs as well…I am so afraid of making the incorrect choice. and at what age would they recommend removing their stomachs?
lisa: I’m sorry to hear of all you’ve gone through. I would recommend telling your doctor and genetic counselor all your concerns. They should be able to advise you on how best to proceed given your unique circumstances. All the best.
I feel as if all this “information” has been thrown at us but no one advises what we should do now. David Huntsman suggested chromo-endoscopies every 6 months for my children, which are not avaialable, even at Duke. How do I monitor my children? I seem to be enough of an anomaly that all the doctors are fascinated, but no one knows what to do!
Lisa: I’m sorry to hear it’s been so difficult determining the best course of action. Perhaps you could contact Dr. Jeffrey Norton of Stanford University by phone or mail? You can find his contact information by clicking here.
We have just learned that we have the CDH1 gene in our family. One of my cousins has been determined to have the gene and the rest of us are waiting for our parents to have the test to determine which cousins need to proceed with genetic testing. My question is, if it is determined that my mother does not have the gene then can I feel confident that I do not have it and not do the genetic testing. I have been told that if my mom does not have the gene, then she could not pass it on so I don’t have to worry, but I not clear on how genes get passed down so I want to make sure this is true.
Judy
Judy,
You are correct. If your mother tests negative, she could not pass the gene on. It is not the “recessive” vs. “dominant” genetic issue that other genes have. Either you have it or you don’t, and if you don’t the gene stops. The yahoo group mentioned above is very supportive and helpful for familes affected by this mutation. You might want to join, and suggest to your family members who are involved and/or tet positive. Good luck and God Bless!
Eileen
Hi my name is Rhonda Lawrence and I am Judy Pierrat’s cousin. She sent this web group to me. I thought it was worth a shot to write in. I am 38 years old. My dad just passed away Nov. 12, 2006. He had stomach cancer (CDH 1 gene mutation). We were to late in discovering his simptoms. The tumor was 7lbs. and went through the stomach. The CT scan didn’t show that the tumor went through the stomach. When the Dr. went in to take the stomach out he saw it went through the stomach wall and the cancer spred like crazy. The Dr. gave dad 3 to 6 weeks. However, my dad had faught long and hard. He lived for two years after the stomach removal. We all were very thankful we had the two years. Unfortunally the end for my dad was really hard. He was in so much pain. My heart would just break every time I would see him. He was so brave and strong. I really miss him. My dad’s younger sister passed of the same mutation as dad. My mother pushed for the genetic testing for my brother, sister and I. Luck has it I tested positive and my brother was negitive. My sister is getting her blood drawn today. I went to have an endoscope 8 day ago. They took a biopsy. I have a MRI and a Mamogram set for next week. Also, I have a consultation with the Dr. that took my dad’s 7 lbs. tumor and stomach out. I am scard to death! I don’t want to die like my dad. I have two boys 12 years and 11 years old. I am scard for them and for me. I feel like there is no good answer. My question is, if I remove my stomach could the cancer start in the esophagus or other vital organs? Also, my family is very active and I wonder would I be able to keep up with my boys? Thank you for taking the time to read and answer.
Hi there so sorry to hear about your dad,my husband had exactly the same his tumour had gone through the stomach wall and was massive it spread to his spleen,that was also removed,and lots of lymph nodes,like your dad they didnt give him long but he was really well for 2yrs and then he got osophagus cancer,he survived a further 12mths,and died a horrendous death,basically starving to death,those memories are engraved in my mind and will never go away,but he showed courage like I have never seen and will probably never see again,and he made me a stronger braver person.
His cancer was genetic and we have 5 beautiful children ranging from 21 to 31 and I am so scared for them,im trying to convince them to be tested but my youngest daughter says she doesnt want to know,she says she couldnt face having her stomach removed,my husband has been dead for 2 yrs now but the fear of the legacy my children and grandchildren have been left with lives on,thanks for everyones comments on here,it makes you feel not so alone.good luck and love to everyone.
Steph.
My father was just diagnosed with stomach cancer with metastases to the liver, lumbar spine, hip bone, and brain. They started his radiation on the whole brain yesterday. The doctor explained to my mother that he would like her to speak to a genetics doctor to have us children checked for the gene that causes this cancer. We live in Idaho and are not quite sure how to go about this. Any help? Thank you in advance. Stacey Whiting
Stacey: I’m sorry to hear about your father. To find a genetic counselor in your area, visit the National Society of Genetic Counselors. You can do a search for one near you by zip code, etc.
Rhonda: Thank you for telling us your family’s story! I’m glad you’re going in to be screened. Cancer is more easily cured when caught early. The thing about cancer is, all of us are at risk of various kinds depending on our genetic make-up and lifestyle. The best thing to do would be to talk to your genetic counselor who can provide you hard numbers and reassurance.
Lots of hugs!
Rhonda,
I have been without my stomach for two years now due to cancer (CDH1) 80% of it came out in 1990, followed by extensive chemo-therapy, and the rest in 2005. Thank God I have not had metastasis and I pray I do not. I work full-time as a media specialist in an elementary school of 650 students. I play piano part-time for a church. I serve as the chirman of the North Carolina Children’s Book Award committee. I work out regularly, as long as I make sure I carry food with me, and lead a very “normal” life. I find that I really have more energy than most every other 48 year old I know. It is possible to thrive, not just survive with no stomach. Even though I am feaarful for my children who wait to be tested, I know that they can look at me and see that anything is possible.
Lisa,
Thank you for sharing with me. I am so sorry but incouraged by you. It sounds like you have adjusted well. How long did it take before you were able to have your regular activities or your “life” back? If you don’t mind me asking how old are your childreen? I am 38 years old and my boys are 11 years and 12 years. I also feel that it is very important to set a good example with my boy and let them know that this thing is not going to bet me like their Poppy. They were very involved with my dad and his cancer. They also know I have the gene and it is possible that one or both of them could have it. I talk to them often about everything. We have a very open relationship. But I wonder if I am taking away their childhood. I didn’t share with them that I may have to have my stomach out. I want to wait till I talk to all the Dr.’s and find out all of my options before I tell them. They lost both of their grandpa’s in one week! They are very worried about me. I was wondering at what age do we test them? In 1990 you had 80% of your stomach out, why not all of it at that time? Than you had the rest out in ‘05, did the cancer grow again? I ask because I don’t know if I should wait till they find something than take only that part of my stomach out. Or do I just go now and take it all out before any cancer starts to grow! I find it hard to know what I should do. I am still trying to cope with the two great loses in my life. Then to try to deal with this. I am afraid I will make the wrong “choice”. I am sorry, I am just rambling again. I do that when I am scard. I will look forward to hearing from you again.
Thank you,
Rhonda
Rhonda,
I know what fear feels like and it is not a welcome guest, however, it can force us to make better choices for ourselves and educate as many people as possible that are dear to us about the possibilities. I will try to answer all your questions. I know how you feel about stealing your boys’ childhood. My children are 19, 22 and 24 now, but they were 3,5, and 7 in 1990. They are just beginning their adult lives: college, graduating from college, starting careers, seeeking a life-long mate. I feel I have set them up for a lifetime of worry, but I have to be realistic and face the fact that this is medicine in 2007. I did not DO anything to cause this. It is NOT my fault. I can invision that very soon every family will have a gentic map of possible diseases and health issues they may have to face based on DNA. My middle son, ironically, is in drug research as a veterinary research assistant for a major pharmaceutical company. He can look at this from the “scientific” stand point and not be as afraid. He has been so good to tell all of us that knowledge is power. I have to remind myself of that. You are much better off knowing that you have the gene than not. I will always believe I am better off ahead of the cancer than behind it. For that reason I am planning an elective mastectomy at some point as a preventive measure. Even though the gene research has somewhat confirmed my fears for my kids there has always been that underlying fear that they too might inherit some form of cancer predestination. It wasn’t until my CDH1 mutation was found in June that I knew for sure. They have all decided that they will be tested together, knowing that it could be either one of them or all of them that test positive. As far as your boys’ testing, the recommendation from Dr. David Huntsman in British Columbia was around 16 for offspring of CDH1 carriers. You may want to consult with someone near you for genetic counseling. Duke University serves as my liason between Dr. Huntsman and myself. The reason only part of my stomach was removed in 1990 is because this gene was not found until around 2002. I had an aunt to pass away with stomach cancer in 1981 and another aunt with breast cancer metastasis in 1974. We believe that both held the mutation even though medical records are not available that far back. My mother was diagnosed 8 years AFTER me and she is CDH1 positive, but she is 85 and going strong. The real mystery is why I was so young the first time around: 32. For that reason my children need to be especially pro-active. I still cannot explain what motivated me…compelled me to be so persistent in 2005 about and endoscopy. I really had no symptoms that were profound. None of my doctors believed anything was wrong. I had made it 15 years cancer-free. My gastoenterologist even told me I needed counseling! I “fired” him right away after the diagnosis. I had to force him to do the endoscopy. Even though the CAT scan and PET scan showed only 1 small “hot spot” in the stomach, when Dr. Theodore Pappas removed the stomach remnant at Duke he found 3 or 4 separate tumors forming. I had so many questions myself about all this. Did the chemo therapy buy me 15 years? Had the cancer alway been there..lying dormant? Questions I may never have the answer to. All I knew was that I wanted to survive..yet again. My cancer this time was omly a stage 1. It was very early and required no chemo. I don’t know if I have done so well because I had 15 years with a partial stomach or what, but I have amazed all my doctors at how well I have adjusted. I had the complete gastrectomy in April of 2005. I weighed 126 pounds before the surgery and I only dropeed down to 117 right after. But I was determined to get back to work as soon as possible. I forced myself to eat every 1 1/2 to 2 hours whether I wanted it or not and by June 1st I was at 124 pounds. I started the new school year in August of 2005…only 3 1/2 months after the surgery. I firmly believe our quality of life is entirely up to us and how we view it. I know my children have always watched me to see how I cope. I am a single mother. Their father is in and out of their lives so I am IT for them. That forces me to try even harder to survive and thrive. Emotionally, I have good days and an occasional bad day when I pull the grief out of it’s little box on the shelf and have a personal pity party. And we all need to do that. But for them I am a rock of determination. I sought out a fantastic counselor that helped me adjust to the second diagnosis. That was quite a blow to my resolve, but I am thriving. My prayer for you and anyone else that faces this challenge is that you have the strength you need and the will to make your life as positive as it can possibly be. I will keep you in my prayers. Please feel free to contact me via email if you would like. fooster5@aol.com
I just found out from a study thru Dr David Hntsman’s reseachthat I do have the CDH1 gene. My chromosomes were studied because my brother died of stomach cancer at 36 and several years later(1992) I was diagnosed with stomach cancer (negative endoscopy but 3#tumor removed had poorly differentiated adenocarcinoma) and had a partial gastrectomy along with chemo and radiation for 8 months.
None of our parents or relatives to our knowledge had had cancer and genetic counselors in 99 felt it was a “coincedence.
Then in 97 i had a new primary found during my my biannual endosopic biopsies although no tumor or suspicious areas were noted during the exam.
The speciman was confirmed as poorly differentiated adenocarcinoma by 3 different labs. I had a total gastrectomy within 2 weeks and the surgeon removed my remaining stomach and some of the small intestine and esophagus. Although all looked healthy I had multiple areas of cancer in the stomach.
It was by chance that I read an article about CDH1 in 2004. I then found that I could send my blood off to Dr. Huntsman and although initially they could not find a mutation on the gene This January I received word that indeed I had a uniquely large mutation on the CDH1 gene making me also more prone to lobular breast cancer. So I have begun Tamoxofen and being followed by a University Breast cancer center prophalactically. I believe in confronting the known and acting proactively. All our blood relatives are being screened now as well.
My sister, Chris Lyons, has commented on the CDH1 gene. After our brother was diagnosed with stomach cancer, then passed, I began to get checked out. I had masses in my duodium. They continued to grow until I could not pass food beyond the blockage. I went to Rochester, MN (Mayo) on my doctor’s suggestion. My surgeon, Mike Sarr, gave me two choices…live or die. I decided to live. I was a single Mom of two boys which were then 3 and 9 years old. My choice was obvious, even though my family did not understand. I had a total gastrectomy in 1993. After 15 years, I have had a few more surgeries. I am doing well and was able to have my third feeding removed in 1998. I am getting tested soon for his CDH1 gene. I feel pretty confident that I will be fine. I worry about my children and their future offspring. Testing for the CDH1 gene is the only way. I thank my sister for now understanding my first surgery 15 years ago!! I love her dearly.
Hi my name is Paul and yesterday got my test results for the CDH1 gene unfortunatley I tested positive.Iam from a family of 5 siblings and just a few weeks ago we lost our brother to stomsch cancer.My little sister also developed stomach cancer last year but survived an operation which we pray will keep her alive and well. Our mum died of stomach cancer at the age of 38.We only realised there could be an hereitory conection when both brother and sister became ill in the same year.I now worry terribly about my son who will be tested in the coming weeks.Ihave been advised that the full removal of my stomach is the only option to prevent the cancer developing.I just wanted to conect with people who are in the same position as me and my loved ones any words of advice will be greatly recieved.
Hello I have just had my son round today and it is getting better as you begin to dealwith this situation
Hi Mike
I am in Canada and I too am in the process of the gastrectomy. Having it done on Oct 22 in Calgary. Once I learned I had the CDH1 gene I got alot of information through the internet regarding your family.
Some members of our family are in the process of being tested. I and my sister both have the gene. Our youngest sister and cousin both passed in their 40a of stomach cancer. Genetics got involved and herein is the rest of the story.
None the less.. THANKYOU to you and your family and all of the information they have provided through various sources that has given me the strength to have the surgery. Your info was so helpful. All other tests have shown negative but I know from reading about you and your family.. the tests have their limitations.. Learned that from Dr’s in the know as well of course.
So thankyou thankyou
Hope your doing well
Maynard