Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.
The MSH6 gene is one of the DNA mismatch repair genes involved in development of inherited cancers, predominantly of the colorectum and endometrium. Herein we describe the first Polish MSH6 family and the pathological and clinical data about the ovarian cancer diagnosed in the proband. Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families with MSH6 germline mutations.
Suchy
Janina
J
Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Academy of Medicine, ul Polabska 4, Szczecin 70-115, Poland. jansuch@interia.pl
Kurzawski
Grzegorz
G
Jakubowska
Anna
A
Lubiński
Jan
J
D000368:Aged; D000369:Aged, 80 and over; D020137:Base Pair Mismatch / Q000235:genetics*; D018269:Carcinoma, Endometrioid / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype
D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein