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Table 2 Spectrum of DV by gene, personal and family history of HBOC and LS

From: Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

Gene Set Gene Total number of cases with DV Individuals with Personal Historyc Individuals with Family Historyc
HBOC LS HBOC LS
BRCA BRCA1 10 5 1 10 5
BRCA2 a 10 3 0 8 6
Lynch MSH2 4 1 2 3 4
MSH6 a 3 0 1 0 2
PMS2 a 7 1 0 4 3
High Risk CDH1 1 0 0 1 1
APC 1 0 0 0 1
MUTYH b 14 5 1 12 11
Moderate – Low Risk ATM 8 5 0 5 7
BARD1 a 1 0 0 0 0
BRIP1 a 5 0 0 4 2
CHEK2 a 9 3 3 7 3
NBN 3 0 0 2 2
PALB2 4 0 1 3 2
  1. aNo Clinical data was provided for 1 individual with DV detected in BARD1, BRCA2, BRIP1, CHEK2, MSH6 and 2 individuals with a DV detected in PMS2
  2. bOne individual was biallelic for a DV in MUTYH, and two MUTYH DV carriers harbored a second DV in a different gene on the panel
  3. cAs ovarian cancer is a common clinical feature of both HBOC and LS, patients with ovarian cancer were included in both these categories