Abstract
PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow- up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
| Original language | English |
|---|---|
| Pages (from-to) | 353-362 |
| Number of pages | 10 |
| Journal | Diseases of the Colon and Rectum |
| Volume | 43 |
| Issue number | 3 |
| State | Published - Mar 2000 |
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All Science Journal Classification (ASJC) codes
- Gastroenterology
Cite this
Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. / Sarroca, Carlos; Alfano, Nora; Bendin, Gladys Tedesco; Della Valle, Adriana; Dominguez, Alejandra; Quadrelli, Roberto; Vaglio, Alicia; Mechoso, Burix; Tinley, Susan T.; Harty, Anne E.; Lynch, Jane F.; Franklin, Barbara A.; Kristo, Paula; Smyrk, Thomas C.; Peltomäki, Päivi; Lynch, Henry T.
In: Diseases of the Colon and Rectum, Vol. 43, No. 3, 03.2000, p. 353-362.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay
AU - Sarroca, Carlos
AU - Alfano, Nora
AU - Bendin, Gladys Tedesco
AU - Della Valle, Adriana
AU - Dominguez, Alejandra
AU - Quadrelli, Roberto
AU - Vaglio, Alicia
AU - Mechoso, Burix
AU - Tinley, Susan T.
AU - Harty, Anne E.
AU - Lynch, Jane F.
AU - Franklin, Barbara A.
AU - Kristo, Paula
AU - Smyrk, Thomas C.
AU - Peltomäki, Päivi
AU - Lynch, Henry T.
PY - 2000/3
Y1 - 2000/3
N2 - PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow- up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
AB - PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow- up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
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M3 - Article
VL - 43
SP - 353
EP - 362
JO - Diseases of the Colon and Rectum
JF - Diseases of the Colon and Rectum
SN - 0012-3706
IS - 3
ER -