SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Norton Mary E.)
 

Search: WFRF:(Norton Mary E.) > (1995-1999) > A Collaborative Sur...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Shattuck Eidens, Donna (author)

A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene : Implications for Presymptomatic Testing and Screening

  • Article/chapterEnglish1995

Publisher, publication year, extent ...

  • American Medical Association (AMA),1995

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:241a0117-9f79-4ef1-9452-644540fd6ff4
  • https://lup.lub.lu.se/record/241a0117-9f79-4ef1-9452-644540fd6ff4URI
  • https://doi.org/10.1001/jama.1995.03520310033026DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • OBJECTIVES:To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations.DESIGN:Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples.PARTICIPANTS:A total of 1086 women with either breast or ovarian cancer.MAIN OUTCOME MEASURE:The detection of sequence variation in patients' DNA samples that is not found in sets of control samples.RESULTS:BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening.CONCLUSIONS:The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Mcclure, Melody (author)
  • Simard, Jacques (author)
  • Labrie, Fernand (author)
  • Narod, Steve (author)
  • Couch, Fergus (author)
  • Hoskins, Kent (author)
  • Weber, Barbara (author)
  • Castilla, Lucio (author)
  • Erdos, Mike (author)
  • Brody, Lawrence (author)
  • Friedman, Lori (author)
  • Ostermeyer, Elizabeth (author)
  • Szabo, Csilla (author)
  • King, Mary Claire (author)
  • Jhanwar, Suresh (author)
  • Offit, Kenneth (author)
  • Norton, Larry (author)
  • Gilewski, Teresa (author)
  • Lubin, Mathew (author)
  • Osborne, Michael (author)
  • Black, Donald (author)
  • Boyd, Marie (author)
  • Steel, Michael (author)
  • Ingles, Sue (author)
  • Haile, Robert (author)
  • Lindblom, Annika (author)
  • Olsson, HakanLund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund Melanoma Study Group,Lund University Research Groups(Swepub:lu)onk-hol (author)
  • Borg, AkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)onk-abo (author)
  • Bishop, D. Timothy (author)
  • Solomon, Ellen (author)
  • Radice, Paolo (author)
  • Spatti, Giovanbattista (author)
  • Gayther, Simon (author)
  • Ponder, Bruce (author)
  • Warren, William (author)
  • Stratton, Mike (author)
  • Liu, Qingyun (author)
  • Fujimura, Frank (author)
  • Lewis, Cathryn (author)
  • Skolnick, Mark H. (author)
  • Goldgar, David E. (author)
  • TumörmikromiljöSektion I (creator_code:org_t)

Related titles

  • In:JAMA: The Journal of the American Medical Association: American Medical Association (AMA)273:7, s. 535-5410098-7484

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view