open access: Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation

open access

 Index

• Background & Aims
• Patients and Methods
  • Patients and Data Collection
  • MSI, Immunohistochemical Staining, and Detection of Germline Mutations
  • Statistical Analysis
• Results
  • Demographic, Clinical, and Pathologic Characteristics of Patients With LLS
  • Risk of Familial Cancer
• Discussion
• Acknowledgments
• Appendix. Study Participants: Members of the EPICOLON Consortium (Gastrointestinal Oncology Group of the Spanish Gastroenterological Association)
• Supplementary Material
• References

Table 2. Characteristics and Family History of Patients With LLS

Patient	Protein lost	Age of index case (y)	No. of relatives with CRCa (n = 14)	No. of relatives with noncolorectal LSRCb (n = 8)	Total no. of first-degree relatives (n = 177)	Cases of CRC (%)c	Cases of noncolorectal LSRC (%)d
1	PMS2	71	0	1 (pancreas)	10	0	10
2	MLH1/PMS2	81	0	0	9	0	0
3	MLH1/PMS2	73	0	0	7	0	0
4	MLH1/PMS2	75	1	1 (stomach)	7	14.2	14.2
5	MLH1/PMS2	45	3	1 (ovary)	10	30	10
6	MSH2/MSH6	38	0	0	5	0	0
7	MSH2/MSH6	74	0	0	6	0	0
8	MSH2/MSH6	32	2	0	3	66.6	0
9	MLH1/PMS2	72	2	3 (uterus)	11	18.1	27.2
10	MLH1/PMS2	51	0	0	4	0	0
11	MLH1/PMS2	46	1	1 (pancreas)	3	33.3	33.3
12	MSH2/MSH6	69	1	0	9	11.1	0
13	MSH6	55	0	0	6	0	0
14	MSH6	56	0	0	4	0	0
15	MLH1/PMS2	72	1	0	7	14.2	0
16	MSH2/MSH6	69	0	0	5	0	0
17	MSH2/MSH6	66	0	1 (stomach)	6	0	16.6
18	MSH2/MSH6	66	0	0	9	0	0
19	MLH1/PMS2	63	1	0	8	12.5	0
20	MLH1/PMS2	46	0	0	11	0	0
21	MLH1/PMS2	71	0	0	4	0	0
22	MLH1/PMS2	69	1	0	12	8.3	0
23	MLH1/PMS2	59	0	0	4	0	0
24	MSH6	79	1	0	8	12.5	0
25	MSH6	54	0	0	9	0	0

a Number of first-degree relatives diagnosed with CRC at any time until diagnosis of the index case.

b Number of first-degree relatives diagnosed with noncolorectal LSRC at any time until diagnosis of the index case.

c Percentage of family members diagnosed with CRC at any time until diagnosis of the index case.

d Percentage of family members diagnosed with noncolorectal LSRC at any time until diagnosis of the index case.