title: Screening for ESR mutations in breast and ovarian cancer patients.
abstract: In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene (ESR). Three patients with a family history of cancer were carrying a Gly160Cys germline substitution. This alteration was also detected in eight (four females and four males) of 729 controls (366 female, 363 males), indicating that the substitution probably represents a polymorphism. However, in the 229 female controls in whom family history of cancer was known, one of two who had a sister with breast cancer was carrying the variant allele. Hence, a possible clinical significance of the glycine into cysteine cannot be completely ruled out and should be further investigated. Somatic mutations were not detected in any of the tumours studied, and the present data do not provide support for somatic ESR base mutations as an important mechanism for hormonal therapy resistance in estrogen receptor-positive breast carcinomas.
authors.affiliation: Department of Genetics, Norwegian Radnon Hospital, Oslo, Norway.
authors.forename: T I
authors.initials: TI
authors.lastname: Anderson
authors.forename: R
authors.initials: R
authors.lastname: Wooster
authors.forename: K
authors.initials: K
authors.lastname: Laake
authors.forename: N
authors.initials: N
authors.lastname: Collins
authors.forename: W
authors.initials: W
authors.lastname: Warren
authors.forename: M
authors.initials: M
authors.lastname: Skrede
authors.forename: R
authors.initials: R
authors.lastname: Elles
authors.forename: K M
authors.initials: KM
authors.lastname: Tveit
authors.forename: S R
authors.initials: SR
authors.lastname: Johnston
authors.forename: M
authors.initials: M
authors.lastname: Dowsett
authors.forename: A O
authors.initials: AO
authors.lastname: Olsen
authors.forename: P
authors.initials: P
authors.lastname: Møller
authors.forename: M R
authors.initials: MR
authors.lastname: Stratton
authors.forename: A L
authors.initials: AL
authors.lastname: Børresen-Dale
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D001943:Breast Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004351:Drug Resistance / Q000235:genetics; D004965:Estrogen Antagonists / Q000627:therapeutic use; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009154:Mutation; D009376:Neoplasms, Hormone-Dependent / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D010051:Ovarian Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011960:Receptors, Estrogen / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004965:Estrogen Antagonists; D011960:Receptors, Estrogen