title: Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer.
abstract: Recommended guidelines have limited breast cancer gene ( BRCA1 ) mutation testing to individuals with a personal or family history of early onset breast and/or ovarian cancer, and those with multiple affected close relatives. Such large breast cancer families are rare in the general population, limiting the clinical application of the BRCA1 discovery. Previous reports have suggested an association between medullary breast cancer and BRCA1 mutation carriers. To test the feasibility of using these rare histological subtypes as an alternative to epidemiological factors, 42 cases of medullary cancer unselected for family history were screened for BRCA1 point mutations and large exon rearrangements. The large majority (83%) of these patients did not have significant family of breast or ovarian cancer. Two deleterious mutations resulting in a premature stop codon, and one exon 13 duplication were found. All mutations were detected in patients with typical medullary cancer, who had family history of multiple breast and ovarian cancers. Our findings suggest that medullary breast cancers are not an indication for BRCA1 mutation screening in the absence of significant family risk factors.
authors.affiliation: Department of Surgery, National University Hospital, Singapore, Singapore. surv6@nus.edu.sg
authors.forename: P T C
authors.initials: PT
authors.lastname: Iau
authors.forename: M
authors.initials: M
authors.lastname: Marafie
authors.forename: A
authors.initials: A
authors.lastname: Ali
authors.forename: J H
authors.initials: JH
authors.lastname: Sng
authors.forename: R D
authors.initials: RD
authors.lastname: Macmillan
authors.forename: S
authors.initials: S
authors.lastname: Pinder
authors.forename: H E
authors.initials: HE
authors.lastname: Denley
authors.forename: I O
authors.initials: IO
authors.lastname: Ellis
authors.forename: P
authors.initials: P
authors.lastname: Wenzyck
authors.forename: N
authors.initials: N
authors.lastname: Scott
authors.forename: G
authors.initials: G
authors.lastname: Cross
authors.forename: R W
authors.initials: RW
authors.lastname: Blamey
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005240:Feasibility Studies; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation; D006801:Humans; D008487:Medical History Taking; D008875:Middle Aged; D015995:Prevalence