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  • Antonis C. Antoniou, Paul D. P. Pharoah, +30 authors Douglas F. Easton
  • Medicine, Biology
  • American journal of human genetics
  • 2003 (First Publication: 1 May 2003)
  • Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based onContinue Reading
  • Brinda Ravikumar, Coralie Vacher, +8 authors David C Rubinsztein
  • Medicine, Biology
  • Nature Genetics
  • 2004 (First Publication: 1 June 2004)
  • Huntington disease is one of nine inherited neurodegenerative disorders caused by a polyglutamine tract expansion. Expanded polyglutamine proteins accumulate abnormally in intracellular aggregates.Continue Reading
  • David E. Goldgar, Douglas F. Easton, Lisa A. Cannon-Albright, Mark H. Skolnick
  • Medicine
  • Journal of the National Cancer Institute
  • 1994 (First Publication: 2 November 1994)
  • BACKGROUND Cancer has long been recognized to have a familial component. Elevated risks for cancers at the same site for relatives of cancer probands have been reported for both common cancers and aContinue Reading
  • Sheila Seal, Deborah J. Thompson, +14 authors Nazneen Rahman
  • Medicine, Biology
  • Nature Genetics
  • 2006 (First Publication: 1 November 2006)
  • We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation–negative families but in only 2/2,081Continue Reading