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Table 3 Enrollee personal and family history of disease

From: Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

 

N

Aware of risk variant prior to screen

Known close relativea with relevant variant

Personal diagnosis of disease (any age)

Close relativea diagnosed with disease (any age)

Met any guidelines for testing

Enrollees with positive screening (n = 103b)

 BOCc

73

23

16

12

33

16

 Lynch, CRC, polyposisd

30

7

4

5

7

5

 FHe

13

1

0

NA

NA

0

Enrollees with uninformative screening (n = 2761)

 BOC

NA

NA

18

99

717

45

 Lynch, CRC, polyposis

NA

NA

6

30

345

59

 FH

NA

NA

0

NA

NA

12

  1. aParent, sibling, child
  2. bOne enrollee received positive screening results for both BOC (breast or ovarian cancer) and FH. CHEK2 was considered to increase risk for both breast and colorectal cancer (CRC). HOXB13 was not considered in any of these three groups
  3. cGenes considered to be associated with BOC: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D
  4. dGenes with results considered to be associated with Lynch syndrome, CRC, or polyposis: APC, CHEK2, MLH1, MSH2, MSH6, PMS2, STK11
  5. eGenes considered to be associated with FH: APOB, LDLR