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Familial Cancer (2005) 4: 209–210 DOI 10.1007/s10689-004-2526-4 Is syndromic terminology important in medical genet- Endometrial cancer is of even greater frequency in ics? McKusick must believe so, because his famous women who are harbingers of the MSH6 germline catalog of Mendelian Inheritance in Man contains more mutation. Other tumors which help to characterize the than 5000 entries of putative and confirmed hereditary syndrome include carcinoma of the ovary, stomach disorders, each providing nomenclature allowing the (particularly in Orientals: Japanese, Chinese, and Kore- reader to focus on a specific disorder by an appropriate ans), small bowel, hepatobiliary tract, breast, pancreas, ‘‘name,’’ thereby facilitating its ultimate identification upper urological tract, and brain. The inclusion of in the catalog. In the case of hereditary cancer the need breast cancer is controversial, but not in our mind; we for classification is burgeoning, particularly when one believe it is an integral cancer in a subset of Lynch considers the veritably explosive developments in syndrome kindreds. molecular genetics and how these developments may Many physicians now recognize the often complex cause terminology to be in flux as it relates to a specific syndrome through its cardinal features, i.e., the strik- germline mutation. Most importantly, once
Familial Cancer – Springer Journals
Published: Sep 17, 2004
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