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Table 2 Characteristics of patients with LS at KPNW included in this study

From: Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study

Variable

N (%)a

 

Sex

 Male

22 (30)

 

 Female

52 (70)

 

Race/Ethnicity

 White/Non-Hispanic

44 (60)

 

 White/Hispanic

2 (3)

 

 White/Unknown

20 (27)

 

 Unknown/Hispanic

2 (3)

 

 Native American/Non-Hispanic

1 (1)

 

 Native American/Unknown

1 (1)

 

 Asian/Non-Hispanic

1 (1)

 

 Unknown/Unknown

3 (4)

 

Genetic Alteration Statusa

 MLH1

19 (23)

 

 MSH2

27 (37)

 

 MSH6

12 (16)

 

 PMS2

11 (15)

 

 EPCAM

5 (7)

 

Genetic Alteration Typeb

 Splicing Variant

11 (16)

 

 Missense

10 (14)

 

 Nonsense

15 (21)

 

 Frameshift

17 (24)

 

 Small deletion

1 (1)

 

 Promoter hypermethylatio

1 (1)

 

 Large deletion

16 (23)

 

Number of Malignancies Preceding LS diagnosis

 One LS-Related Malignancy

37 (50)

 

 Two or more LS-Related Malignancies

10 (14)

 

Type of LS-Related Malignancies Preceding LS diagnosis

 Colorectal Cancer

36 (49)

 

 Endometrial Cancer

10 (26)c

 

 Ovarian Cancer

5 (14)d

 

 Breast Cancer

5 (10)e

 

 Sebaceous Gland Skin Tumors

3 (4)

 

 Pancreatic Cancer

1 (1)

 

Variable

Mean ± SD

Range

 Age at LS Diagnosis

50.6 ± 13.9

19–79

  1. aPercent is given out of number of patients with genetic status confirmed by chart-documented testing (n = 71). One patient was diagnosed on the basis of germline hypermethylation of the promoter of MLH1 (included as MLH1). Two patients had alterations in more than one gene, with one being a deletion encompassing portions of both EPCAM and MSH2
  2. bPercent is given out of number of patients with genetic alteration type accessible in the chart note (n = 70); one patient had two alterations with the alteration type documented (both missense); another patient had a single large deletion encompassing portions of two genes: EPCAM and MSH2. Large deletions were considered to be those greater than one exon that did not result in a frameshift
  3. cEndometrial cancer rate defined as the number of women who had diagnosis of endometrial cancer prior to LS diagnosis by the number of women who had not had an unrelated hysterectomy prior to LS and endometrial cancer diagnoses (n = 38)
  4. dOvarian cancer rate defined as the number of women who had diagnosis of ovarian cancer prior to LS diagnosis by the number of women who had not had an unrelated BSO prior to LS and ovarian cancer diagnoses (n = 36)
  5. eBreast cancer rate defined as the number of women who had breast cancer prior to LS diagnosis by the number of women (n = 52); no prior unrelated mastectomies were observed