5 Matching Annotations
  1. Apr 2017
    1. BRCA1/2 mutation carriers diagnosed with breast cancer before age 50 years are prone to a worse survival,

      Interestingly no real differentiation between ER status.

    2. We established a cohort of invasive breast cancer patients diagnosed younger than age 50 years in 10 Dutch hospitals between 1970 and 2003

      Great sized cohort: 6478 breast carrier patients. 3.2% BRCA1 carriers and 1.2% BRCA2.

    1. Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney

      This is an astonishingly rare disease.

    1. Gitelman syndrome (GS)

      This is an astonishingly rare mutation.

  2. May 2015