Search: onr:"swepub:oai:gup.ub.gu.se/52180" > Occurrence of both ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 06370naa a2200793 4500 | |
001 | oai:gup.ub.gu.se/52180 | |
003 | SwePub | |
008 | 240910s2007 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/521802 URI |
024 | 7 | a https://doi.org/10.1007/s10689-006-9101-02 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Einbeigi, Zakaria,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences4 aut0 (Swepub:gu)xeinza |
245 | 1 0 | a Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden. |
264 | c 2006-08-31 | |
264 | 1 | b Springer Science and Business Media LLC,c 2007 |
520 | a AIM: This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS: This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival paraffin tissue blocks of their tumors were retrieved for DNA-extraction to analyze the founder mutation, BRCA1 c.3171_3175dup (c.3171ins5), which is most common in this geographic area and four other common Scandinavian BRCA1 gene mutations and one BRCA2 mutation. Together, account these mutations for approximately 75% of the BRCA1/2 gene mutations in the clinical unit. RESULTS: Ninteen percent (95% confidence interval (CI) 14-24%) of the women carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation. One-third of the women with both tumors before age 60 were mutation carriers. BRCA1 c.3171_3175dup (c.3171ins5) constituted 84% of all identified mutations. Although the majority of breast cancers were invasive ductal and atypical medullary types, a variety of other breast malignancies were seen among mutation carriers. Serous ovarian carcinomas predominated among ovarian tumors. A variety of other ovarian tumors, including three granulosa-theca cell tumors, were also observed among mutation carriers. CONCLUSIONS: The occurrence of both breast and ovarian cancer in a woman is associated with a high likelihood of a constitutional BRCA1 mutation. These women and their families might therefore be considered for mutation screening after appropriate genetic counselling. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
653 | a Age of Onset | |
653 | a Breast Neoplasms | |
653 | a epidemiology | |
653 | a genetics | |
653 | a Cohort Studies | |
653 | a DNA Mutational Analysis | |
653 | a Female | |
653 | a Genes | |
653 | a BRCA1 | |
653 | a Genes | |
653 | a BRCA2 | |
653 | a Genetic Screening | |
653 | a Genetics | |
653 | a Population | |
653 | a Humans | |
653 | a Mutation | |
653 | a Neoplasms | |
653 | a Second Primary | |
653 | a epidemiology | |
653 | a genetics | |
653 | a Neoplastic Syndromes | |
653 | a Hereditary | |
653 | a Ovarian Neoplasms | |
653 | a epidemiology | |
653 | a genetics | |
653 | a Retrospective Studies | |
653 | a Risk Assessment | |
653 | a statistics & numerical data | |
653 | a Sweden | |
653 | a epidemiology | |
653 | a Tumor Markers | |
653 | a Biological | |
653 | a genetics | |
700 | 1 | a Bergman, Annika,d 1972u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xbannj |
700 | 1 | a Meis-Kindblom, Jeanne,d 1952u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xmeije |
700 | 1 | a Flodin, Annau Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut |
700 | 1 | a Bjursell, Cecilia,d 1971u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xbjurc |
700 | 1 | a Martinsson, Tommy,d 1956u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xmarto |
700 | 1 | a Kindblom, Lars-Gunnar,d 1946u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xkinla |
700 | 1 | a Wahlström, Jan,d 1939u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xwahja |
700 | 1 | a Wallgren, Arne,d 1940u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences4 aut0 (Swepub:gu)xwalar |
700 | 1 | a Nordling, Margareta,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xnmarx |
700 | 1 | a Karlsson, Per,d 1963u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences4 aut0 (Swepub:gu)xkperd |
710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper4 org |
773 | 0 | t Familial cancerd : Springer Science and Business Media LLCg 6:1, s. 35-41q 6:1<35-41x 1389-9600x 1573-7292 |
856 | 4 8 | u https://gup.ub.gu.se/publication/52180 |
856 | 4 8 | u https://doi.org/10.1007/s10689-006-9101-0 |
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