The Genetic Genealogist

A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy?

January 3rd, 2008 in DNA in the News, DNA Studies |

Scientists from the University of Utah have traced a mutation in the adenomatous polyposis coli (APC) gene to a Mr. and Mrs. George Fry, who arrived in the New World aboard the William & Mary around 1630.

The mutation, c.426_427delAT, is believed to increase the carrier’s chances of developing colon cancer from 2 in 3 by age 80, a significant increase from the normal of 1 in 24. The study is available here for FREE – thank you open access – and is entitled “American Founder Mutation for Attenuated Familial Adenomatous Polyposis.”

Scientists traced two branches (from two of the Fry’s four children) of the family back to the Fry family, one in Upstate New York and one in Utah. The family in Utah, with more than 5,000 people, has been the focus of scientific study for over 14 years because of their unfortunately high risk of colon cancer. In fact, members of the Utah branch constitute 0.15% of all colon cancer in the state of Utah!

Figure 1 from the paper:

Interestingly, the researchers used familysearch.org to trace back 10 generations to link the Utah and New York families. According to the Salt Lake Tribune, “another 13 families around the country have a similar ‘genetic fingerprint,’ Neklason said, but have not yet been definitely linked to the English couple with whom the mutation likely originated.” From the paper:

“By using family history records and standard genealogy methods, kindreds 353 and 439 were traced to a common founding couple who were born in England in the 1590s. The couple was married in St. Nicholas, Somerset, England, in 1615 and had 4 children born in England between 1615 and 1624. The couple, along with at least 2 of their children, arrived in America some time before 1640, when their daughter was married in Weymouth, Norfolk, Massachusetts. A son born in 1615 is the ancestor to kindred 439 and a daughter, born in 1620, is the ancestor to kindred 353. The birth year of each parent is indicated on the pedigree.”

DNA sequencing was performed using Affymetrix GeneChip Human Mapping 10,000 SNP arrays.

This isn’t the first case of a gene being traced to early immigrants. In 2004 researchers announced that a mutation in the MSH2 gene, also linked to increased risk of colorectal cancer, was brought to Pennsylvania by German immigrants in the early 1700′s.The one thing that bothered me was that according to study author Deb Neklason, the mutation has not been found in England and thus is believed to have originated with Mr. or Mrs. Fry. Probably too far-reaching of a conclusion at this point – how much study has been done in England related to this mutation? And, of course, it could have originated with Mr. or Mrs. Fry’s parents, or grandparents, etc. Really just a minor point.

So what does this mean for genealogists? I believe that this will become more and more common as the cost of DNA sequencing descreases. Five years ago, this study might have been too expensive to complete. When people begin to combine genetic sequencing with family trees, these studies will be limited only by the availability of family trees and computing power (I imagine that some of it will be quite complex). At first it might seem a little far-fetched, and it worries many people (perhaps rightfully so), but it is likely that at some point in the not-so-distant future scientists will be able to trace many of the SNPs in an individual’s genome back to a specific ancestor. Personally that possibility seems exciting, although I certainly respect and appreciate the privacy worries that many people have.

On a final note, I would hate to think that founder families will be known merely for their mutations. Although the Fry’s may have brought this harmful gene with them to the New World, their DNA made possible the lives of every one of those descendants.

For more information:

Deseret News (an interesting discussion about privacy and health has popped up in the comments there)
Salt Lake Tribune
New Scientist
Health Day
Eastman’s Online Genealogy Newsletter

19 Responses to “ A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy? ”

# 1 Smoky Mountain Family Historian Says:
January 4th, 2008 at 2:12 am
. I have a family that arrive in American in February 1630 so I guess that I can now wonder if their descendants are the ones described in the article since the family preferred to remain anonymous. Update: (1/3) According to Blaine, it is theFry Family. It wasn’t my 1630-arriving family.
# 2 Genea-Musings Says:
September 30th, 2008 at 5:36 pm
DNA and family chart databases to trace genes and mutations through genealogies. SMGF, for example, is already collecting both DNA and family charts, and is set to release the Sorenson Autosomal Database in the near future. “Additionally,earlier this yeara deadly mutation that leads to colon cancer was traced to an English couple that emigrated to the United States in 1630, almost 400 years ago. Although not everyone with this mutation is descended from this couple, many are; thus, if you have the
# 3 StumbleUpon - Your page is now on StumbleUpon! Says:
January 3rd, 2008 at 5:12 pm
[...] Your page is on StumbleUpon [...]
# 4 Ann Turner Says:
January 4th, 2008 at 6:23 pm
Unfortunately, the link to the article by Neklason appears to be for subscribers only. However, a free full-text article about the mutation in MSH2 is available online

http://jama.ama-assn.org/cgi/reprint/291/6/718
# 5 Blaine Bettinger Says:
January 4th, 2008 at 7:05 pm
Ann,

Thank you for the link. I apologize for the misunderstanding, I must have been connected to my school’s network when I obtained the article.
# 6 DNA & founder -- colon - DNA Forums Says:
January 5th, 2008 at 2:54 am
[...] http://www.thegeneticgenealogist.com/2008/…etic-genealogy/Excerpt from New Scientist:http://www.newscientist.com/article/dn1313…cer-legacy.html"A married couple who sailed to America from England around 1630 may be the ancestors of thousands of people in the US at higher risk of a hereditary form of colon cancer who are alive today, researchers said on Wednesday." [...]
# 7 jonnie j boden potts Says:
January 6th, 2008 at 5:52 pm
my mother died of adenomus colon cancer in1983 my nephew also died of colon cancer june 2001 and my sister his mother died aug 2001, we were tested for the breast cancer gene but none was present…..my mother also had stage 4 melonoma, my nephew had a stage 2 melanoma 10 years pryor to his colon ca
# 8 Lee Anders Says:
January 6th, 2008 at 10:22 pm
I read about this elsewhere, and all I could think was I hope we don’t descend from the FRY family. Of course, you’re right. Their presence made many people possible, but still…:-) I think I would be more excited by news like this if there was a vaccine that would prevent “XYZ” disease from developing waiting for everyone who matched.
# 9 Genetic Genealogy From Around the Web » The Genetic Genealogist Says:
January 7th, 2008 at 3:04 am
[...] analysis) will impact many areas of life, including genetic genealogy (as we saw with the recent colon cancer study). Jason even agrees in the comments that genetic genealogy may actually be a driving force behind [...]
# 10 Tracing a 500-Year-Old Founder Mutation Using Genetic Genealogy » The Genetic Genealogist Says:
April 21st, 2008 at 3:03 am
[...] January I wrote about a study that traced a mutation in a single colon cancer gene to 1630. Today, researchers [...]
# 11 Jennifer (Et Tu?) Says:
July 4th, 2008 at 9:52 pm
This is so fascinating. I’m from one of the HNPCC families and worked with the researchers quite a bit to help them gather data about our family history. Although the circumstances behind the study are sad, it was fascinating to see them piece our family history together.

Thanks for this post — very interesting!

Jennifer (Et Tu?)’s last blog post..Welcome, National Review readers
# 12 biochemicallife's blog, page 2 - StumbleUpon Says:
August 22nd, 2008 at 3:36 am
[...] [...]
# 13 Identifying an Unknown Parent Using Genetic Genealogy » The Genetic Genealogist Says:
September 29th, 2008 at 3:01 am
[...] earlier this year a deadly mutation that leads to colon cancer was traced to an English couple that emigrated to the [...]
# 14 colon cancer Says:
November 19th, 2008 at 4:29 am
A team of scientists has discovered a gene that, when it stops working, causes the appearance of colon cancer in it’s sporadic (noninherited) form.

colon cancer’s last blog post..Mesothelioma Cancer Treatment and Prevention
# 15 tom@chemo Says:
April 14th, 2009 at 12:19 am
I recall almost all colorectal cancers are found with APC mutations. But I presume this is not the same as the Fry 426-427 deletion mutant?

tom@chemo’s last blog post..Chemotherapy and DNA
# 16 sime Says:
April 16th, 2009 at 1:56 pm
iam too become Genealogist
# 17 MR Mesothelioma Says:
August 10th, 2009 at 4:07 am
my grandmother also dead because of this cancer…so Sad when i remember this

MR Mesothelioma’s last blog post..Mesothelioma is Serious Cancer
# 18 The Future of Genetic Genealogy – Tracing DNA To Individual Ancestors » The Genetic Genealogist Says:
September 21st, 2009 at 3:00 am
[...] For obvious reasons, medical geneticists have for many years been using genealogy to trace founder mutations in populations.Â For example, in 2008 scientists traced a colon cancer gene in the United States to a Mr. and Mrs. George Fry who arrived in the New World around 1630 (see A Single Colon Cancer Gene Traced to 1630). [...]
# 19 Welcome, Doctor Radio Listeners! | familygoss.com Says:
October 27th, 2010 at 3:21 am
[...] to a Mr. and Mrs. George Fry who came to America in 1630. I have a write-up of the study here (http://www.thegeneticgenealogist.com/2008/01/03/a-single-colon-cancer-gene-traced-to-1630-the-future…). There was also some brief discussion of mtDNA testing and the future of personal [...]

A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy?

19 Responses to “ A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy? ”

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