title: Breast cancer in an MSH2 gene mutation carrier.
abstract: A 49-year-old woman presented with breast cancer. She is a member of a family with the hereditary nonpolyposis colorectal cancer syndrome for which a 2-base pair deletion in exon 11 of the mismatch repair gene MSH2 (c1705_1706 delGA) had been identified. Breast cancer is rare in the hereditary nonpolyposis colorectal cancer syndrome. Microsatellite analysis of the tumor showed a microsatellite instable pattern for markers Bat25, Bat26, and Bat40, and no changes for markers D2S123 and D5S346, a so-called microsatellite instability-high pattern. Immunohistochemical staining for the mismatch repair enzymes MSH2 and MSH6 was negative, whereas the tumor cells were positive for MLH1, a pattern suggestive for biallelic MSH2 gene inactivation. We tested the tumor for loss of heterozygosity of the MSH2 gene and found loss of the wild-type MSH2 allele. These data strongly suggest that the MSH2 gene was involved in the development of this breast tumor.
authors.affiliation: Laboratory for Pathology Dordrecht, 3317 NL Dordrecht, The Netherlands. pwestenend@paldordt.nl
authors.forename: Pieter J
authors.initials: PJ
authors.lastname: Westenend
authors.forename: Ronald
authors.initials: R
authors.lastname: Schütte
authors.forename: Monique M C P
authors.initials: MM
authors.lastname: Hoogmans
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Winand N M
authors.initials: WN
authors.lastname: Dinjens
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009378:Neoplasms, Multiple Primary
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein