Abstract
OBJECTIVE: We report a multigeneration family where colorectal cancer and cancer of multiple diverse anatomic sites, inclusive of transitional cell carcinoma of the upper uroepithelial tract, were manifested in several relatives. METHODS: A specific pattern of cancer of the colorectum, endometrium, ovary, small bowel, and transitional cell carcinoma, with a vertical distribution of this cancer phenotype through multiple generations, was consonant with a diagnosis of hereditary nonpolyposis colorectal cancer. RESULTS: Germline mutation testing identified the MSH2 mutation, which segregated with the cancer phenotype. This family study clearly demonstrates the value of genetic testing in the management and treatment decision process. CONCLUSIONS: We document, perhaps for the first time, how molecular genetic testing in hereditary nonpolyposis colorectal cancer can aid in the identification of a potential renal transplant donor for a relative with the MSH2 mutation who is experiencing renal insufficiency secondary to transitional cell carcinoma.
| Original language | English |
|---|---|
| Pages (from-to) | 664-670 |
| Number of pages | 7 |
| Journal | American Journal of Gastroenterology |
| Volume | 98 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2003 |
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All Science Journal Classification (ASJC) codes
- Gastroenterology
Cite this
Multiple primary cancer, including transitional cell carcinoma of the upper uroepithelial tract in a multigeneration HNPCC family : Molecular genetic, diagnostic, and management implications. / Lynch, Henry T.; Taylor, Rodney J.; Lynch, Jane F.; Knezetic, Joseph A.; Barrows, Ali; Fodde, Riccardo; Wijnen, Juul; Wagner, Anja.
In: American Journal of Gastroenterology, Vol. 98, No. 3, 01.03.2003, p. 664-670.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiple primary cancer, including transitional cell carcinoma of the upper uroepithelial tract in a multigeneration HNPCC family
T2 - Molecular genetic, diagnostic, and management implications
AU - Lynch, Henry T.
AU - Taylor, Rodney J.
AU - Lynch, Jane F.
AU - Knezetic, Joseph A.
AU - Barrows, Ali
AU - Fodde, Riccardo
AU - Wijnen, Juul
AU - Wagner, Anja
PY - 2003/3/1
Y1 - 2003/3/1
N2 - OBJECTIVE: We report a multigeneration family where colorectal cancer and cancer of multiple diverse anatomic sites, inclusive of transitional cell carcinoma of the upper uroepithelial tract, were manifested in several relatives. METHODS: A specific pattern of cancer of the colorectum, endometrium, ovary, small bowel, and transitional cell carcinoma, with a vertical distribution of this cancer phenotype through multiple generations, was consonant with a diagnosis of hereditary nonpolyposis colorectal cancer. RESULTS: Germline mutation testing identified the MSH2 mutation, which segregated with the cancer phenotype. This family study clearly demonstrates the value of genetic testing in the management and treatment decision process. CONCLUSIONS: We document, perhaps for the first time, how molecular genetic testing in hereditary nonpolyposis colorectal cancer can aid in the identification of a potential renal transplant donor for a relative with the MSH2 mutation who is experiencing renal insufficiency secondary to transitional cell carcinoma.
AB - OBJECTIVE: We report a multigeneration family where colorectal cancer and cancer of multiple diverse anatomic sites, inclusive of transitional cell carcinoma of the upper uroepithelial tract, were manifested in several relatives. METHODS: A specific pattern of cancer of the colorectum, endometrium, ovary, small bowel, and transitional cell carcinoma, with a vertical distribution of this cancer phenotype through multiple generations, was consonant with a diagnosis of hereditary nonpolyposis colorectal cancer. RESULTS: Germline mutation testing identified the MSH2 mutation, which segregated with the cancer phenotype. This family study clearly demonstrates the value of genetic testing in the management and treatment decision process. CONCLUSIONS: We document, perhaps for the first time, how molecular genetic testing in hereditary nonpolyposis colorectal cancer can aid in the identification of a potential renal transplant donor for a relative with the MSH2 mutation who is experiencing renal insufficiency secondary to transitional cell carcinoma.
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U2 - 10.1111/j.1572-0241.2003.07329.x
DO - 10.1111/j.1572-0241.2003.07329.x
M3 - Article
VL - 98
SP - 664
EP - 670
JO - American Journal of Gastroenterology
JF - American Journal of Gastroenterology
SN - 0002-9270
IS - 3
ER -