title: Breast cancer immunohistochemistry can be useful in triage of some HNPCC families.
abstract: Immunohistochemistry of tumour samples is increasingly used in the triage of families where hereditary non-polyposis colorectal cancer (HNPCC) due to mismatch repair defects is suspected. Usually, this is undertaken in tumours that are a recognised part of the spectrum of HNPCC-related cancers e.g. colon or endometrial cancers. Although breast cancers are not classed as part of this spectrum, this study examined the extent to which some breast tumours do arise by the mismatch repair pathway in these families. This may have clinical utility in families where an individual with a 'classic HNPPC-related' tumour is not available for evaluation. Immunohistochemistry of a breast tumour may identify an individual in whom germline mutation testing is worthwhile.
authors.affiliation: Familial Cancer Service, Westmead Hospital, Westmead, Sydney, Australia. Susan.Shanley@rmh.nhs.uk
authors.forename: S
authors.initials: S
authors.lastname: Shanley
authors.forename: C
authors.initials: C
authors.lastname: Fung
authors.forename: J
authors.initials: J
authors.lastname: Milliken
authors.forename: J
authors.initials: J
authors.lastname: Leary
authors.forename: R
authors.initials: R
authors.lastname: Barnetson
authors.forename: M
authors.initials: M
authors.lastname: Schnitzler
authors.forename: J
authors.initials: J
authors.lastname: Kirk
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics* / Q000276:immunology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000145:classification / Q000235:genetics* / Q000276:immunology; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D010375:Pedigree