5 Matching Annotations
  1. Mar 2021
    1. PALB2 loss-of-function variants are associated with lifetime risks of breast cancer of 24% to 54%, depending on the extent of family history of breast cancer.

      Gene: PALB2

      Disease: Hereditary breast carcinoma

      MONDO: MONDO:0016419

      InheritancePattern: Autosomal dominant

    1. While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer.

      Gene: PALB2

      Disease: Hereditary breast carcinoma

      MONDO: MONDO:0016419

      InheritancePattern: Autosomal dominant

    1. Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer.

      Gene: PALB2

      Disease: Hereditary breast carcinoma

      MONDO: MONDO:0016419

      InheritancePattern: Autosomal dominant

    1. Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1).

      Gene: SCN5A

      Disease: Brugada syndrome

      MONDO: MONDO:0011001

      InheritancePattern: Autosomal dominant

  2. Feb 2021