title: Association of HNPCC and endometrial cancers.
abstract: Hereditary nonpolyposis colorectal cancer (HNPCC) is among the representative familial cancers that are autosomally dominant inherited disorders. Because endometrial cancers develop at high rates in women with HNPCC, it is suggested that some endometrial cancers are familial cancers that are induced by mutations of the DNA mismatch repair (MMR) genes, as in HNPCC. To understand the clinical pathology of familial endometrial cancers that are associated with HNPCC, we surveyed the family histories of 385 patients with endometrial cancer and found that 0.5% of endometrial cancers met the new diagnostic criteria of HNPCC. From molecular and biological analyses, we found microsatellite instability in 30.8% of endometrial cancers and germline mutations of MMR genes in 8.3%. These results suggest a close relationship of MMR gene mutations to the development of endometrial cancers. For a better understanding of the clinical pathology of HNPCC-associated familial endometrial cancers, it is critical for gynecologists to perform a large multicenter study, including detailed family histories.
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582, Tokyo, Japan. kbanno@sc.itc.keio.ac.jp
authors.forename: Kouji
authors.initials: K
authors.lastname: Banno
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Susumu
authors.forename: Megumi
authors.initials: M
authors.lastname: Yanokura
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hirao
authors.forename: Takashi
authors.initials: T
authors.lastname: Iwata
authors.forename: Akira
authors.initials: A
authors.lastname: Hirasawa
authors.forename: Daisuke
authors.initials: D
authors.lastname: Aoki
authors.forename: Kokichi
authors.initials: K
authors.lastname: Sugano
authors.forename: Shiro
authors.initials: S
authors.lastname: Nozawa
mesh_terms: D043171:Chromosomal Instability / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics; D016889:Endometrial Neoplasms / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree