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
N1 - Funding Information:
This journal article was supported by revenue from Nebraska cigarette taxes awarded to Creighton University by the Nebraska Department of Health and Human Services. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Nebraska or the Nebraska Department of Health and Human Services. Support was also provided by National Institutes of Health grant no. 5U01 CA86389-01.
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.
UR - http://www.scopus.com/inward/record.url?scp=0037343935&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037343935&partnerID=8YFLogxK
U2 - 10.1111/j.1572-0241.2003.07329.x
DO - 10.1111/j.1572-0241.2003.07329.x
M3 - Article
C2 - 12650804
AN - SCOPUS:0037343935
VL - 98
SP - 664
EP - 670
JO - American Journal of Gastroenterology
JF - American Journal of Gastroenterology
SN - 0002-9270
IS - 3
ER -