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. Author manuscript; available in PMC: 2016 Sep 1.
Published in final edited form as: Fam Cancer. 2015 Sep;14(3):415–425. doi: 10.1007/s10689-015-9795-y

Table 1.

Clinicopathologic characteristics of Caribbean Hispanic colorectal cancer patients according to MMR germline mutations and MMR protein-deficient status.

Study ID Mutation Gender Age at CRC Tumor Location Family History of CRC Family History LS Associated Cancers Amsterdam (A)/Bethesda (B)
MLH1

8343 c.1024del16 F 43 Sigmoid Yes Yes A I
9009 c.2044_2045del F 58 Transverse Yes Yes A II
9009.02 c.2044_2045del M 42 Transverse Yes Yes A II
9009.03 c.2044_2045del M 42 Transverse Yes Yes A II
9306 c.1024del16 M 39 Descending Yes Yes A I
9306.01 c.1024del16 F 35 Yes Yes B
Pte. CUR c.2044_2045del M Yes Yes A II
Pte. MMP c.1855delG M 29 Right Colon Yes No B

MSH2

9106 c.IVS5-1G>T F 47 Ascending Yes Yes B
Pte. DMM c.IVS5-1G>T F Endometrial (44) Yes Yes B
9109 c.905T>A F 51 Ascending No Yes A II
9162 c.1705delGA F 42 Skin Yes No A II
9162.01 c.1705delGA F Yes No A II
9162.02* c.1705delGA F - - Yes No A II
9162.03* c.1705delGA F - - Yes No A II
9249 c.1457del4 F 39 Rectosigmoid No No B
9258 c. del exons 1–3 F 57 Yes Yes B
Pte. JCG c. del exons 1–3 F 32 Rectum Yes Yes B
9500 c.IVS11+1G>A M 45 Yes No B
Pte. HFO c.1308insT F 61 Yes No A I
9560 c.876insC M Yes No B

MSH6

9476 c.3119delTT F 34 Cecum Yes Yes B

Immunohistochemistry Analysis for MMR proteins (Absent Protein)

MLH1

9124 M 46 Yes No A II
9253 M 22 Colon No No B
9413 M 57 Ascending Yes Yes B
9420 M 30 Sigmoid Yes Yes B
9473 F 34 Cecum Yes No B

MSH2

8313 F 75 Rectum No Yes A II
8397 F 59 Sigmoid Yes Yes A I
8160 M 59 Ascending No Yes B
9091.01 M 58 Right Colon Yes Yes B
9423 M 43 Right Colon No Yes B
17017 M 75 Rectum No Yes B
9611 F 40 No Yes B
Pte. ESO F 40 Rectosigmoid No Yes B
*

Mutation carriers.