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Table 3 Bi-allelic loss of function in the Foundation Medicine ovarian and breast cancer cohorts

From: Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets

n/N (%)

Ovarian

Breast

Germline

Somatic

Germline

Somatic

BRCA1

bi-allelic LoF

96/100 (96)

82/85 (96)

77a/85 (91)

48bc/56 (86b)

BRCA2

bi-allelic LoF

34/38 (89)

47/52 (90)

95b/111 (86b)

51bd/68 (75b)

  1. LoF loss of function
  2. aOne tumour lost a germline but gained a homozygous somatic mutation
  3. bComposite heterozygous mutations are considered as bi-allelic LoF
  4. cThe patient with a compound heterozygous LoF had two somatic frameshift mutations
  5. dOf the five patients with compound heterozygous LoF, four had both germline and somatic mutations and one had two somatic mutations