Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

Carlos Sarroca, Nora Alfano, Gladys Tedesco Bendin, Adriana Della Valle, Alejandra Dominguez, Roberto Quadrelli, Alicia Vaglio, Burix Mechoso, Susan T. Tinley, Anne E. Harty, Jane F. Lynch, Barbara A. Franklin, Paula Kristo, Thomas C. Smyrk, Päivi Peltomäki, Henry T. Lynch

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 languageEnglish
Pages (from-to)353-362
Number of pages10
JournalDiseases of the Colon and Rectum
Volume43
Issue number3
StatePublished - Mar 2000

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Lynch Syndrome II
Uruguay
Hereditary Nonpolyposis Colorectal Neoplasms
Germ-Line Mutation
Colonic Neoplasms
Colorectal Neoplasms
Second Primary Neoplasms
Genetic Counseling
Genetic Testing
Siblings
Molecular Biology
Colon
Pathology
Carcinoma
Physicians
Survival
DNA

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Sarroca, C., Alfano, N., Bendin, G. T., Della Valle, A., Dominguez, A., Quadrelli, R., ... Lynch, H. T. (2000). Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. Diseases of the Colon and Rectum, 43(3), 353-362.

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 journalArticle

Sarroca, C, Alfano, N, Bendin, GT, Della Valle, A, Dominguez, A, Quadrelli, R, Vaglio, A, Mechoso, B, Tinley, ST, Harty, AE, Lynch, JF, Franklin, BA, Kristo, P, Smyrk, TC, Peltomäki, P & Lynch, HT 2000, 'Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay', Diseases of the Colon and Rectum, vol. 43, no. 3, pp. 353-362.
Sarroca C, Alfano N, Bendin GT, Della Valle A, Dominguez A, Quadrelli R et al. Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. Diseases of the Colon and Rectum. 2000 Mar;43(3):353-362.
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. / Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. In: Diseases of the Colon and Rectum. 2000 ; Vol. 43, No. 3. pp. 353-362.
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AU - Dominguez, Alejandra

AU - Quadrelli, Roberto

AU - Vaglio, Alicia

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AU - Lynch, Jane F.

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