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Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1

Johannsson, Oskar Thor LU (1997)
Abstract
The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. 17q in sporadic breast cancer not to be indicative of the presence of a BRCA1 mutation. Seventeen different germline BRCA1 mutations have been found in 34 separate breast and breast-ovarian cancer families. Five founder mutations were identified. If silent and suspected polymorphism mutations are excluded, frameshift, nonsense and splice mutations account for 93% in our material. mRNA in situ hybridization of BRCA1 was found to be able to identify BRCA1 and... (More)
The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. 17q in sporadic breast cancer not to be indicative of the presence of a BRCA1 mutation. Seventeen different germline BRCA1 mutations have been found in 34 separate breast and breast-ovarian cancer families. Five founder mutations were identified. If silent and suspected polymorphism mutations are excluded, frameshift, nonsense and splice mutations account for 93% in our material. mRNA in situ hybridization of BRCA1 was found to be able to identify BRCA1 and sporadic tumors with 95% specificity and sensitivity. The histology and tumor biological features of BRCA1 associated breast cancers was found to be predominantly of the ductal type, histological grade III, non-diploid with a high S-phase, predominantly TP53 positive and E (Less)
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author
opponent
  • Dr Carl Blomqvist, Carl Blomqvist
organization
publishing date
type
Thesis
publication status
published
subject
keywords
survival analysis, CGH, mRNA in situ hybridization, germline mutations, LOH, Breast neoplasm, BRCA1, Cytology, oncology, cancerology, Cytologi, onkologi, cancer
pages
310 pages
publisher
Department of Oncology, Clinical Sciences, Lund University
defense location
Department of Oncology Lecture Hall
defense date
1997-01-01 10:15
external identifiers
  • Other:ISRN: LUMEDW/MEOK-1023-SE
ISBN
91-628-2586-0
language
English
LU publication?
yes
id
2cfab053-eac6-4ca1-a8aa-3ba085b599e6 (old id 29313)
date added to LUP
2007-06-13 13:56:25
date last changed
2016-09-19 08:45:01
@phdthesis{2cfab053-eac6-4ca1-a8aa-3ba085b599e6,
  abstract     = {The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. 17q in sporadic breast cancer not to be indicative of the presence of a BRCA1 mutation. Seventeen different germline BRCA1 mutations have been found in 34 separate breast and breast-ovarian cancer families. Five founder mutations were identified. If silent and suspected polymorphism mutations are excluded, frameshift, nonsense and splice mutations account for 93% in our material. mRNA in situ hybridization of BRCA1 was found to be able to identify BRCA1 and sporadic tumors with 95% specificity and sensitivity. The histology and tumor biological features of BRCA1 associated breast cancers was found to be predominantly of the ductal type, histological grade III, non-diploid with a high S-phase, predominantly TP53 positive and E},
  author       = {Johannsson, Oskar Thor},
  isbn         = {91-628-2586-0},
  keyword      = {survival analysis,CGH,mRNA in situ hybridization,germline mutations,LOH,Breast neoplasm,BRCA1,Cytology,oncology,cancerology,Cytologi,onkologi,cancer},
  language     = {eng},
  pages        = {310},
  publisher    = {Department of Oncology, Clinical Sciences, Lund University},
  school       = {Lund University},
  title        = {Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1},
  year         = {1997},
}