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. 2015 Oct 22;6(38):41108–41122. doi: 10.18632/oncotarget.5694

Table 1. Overview of the study population.

ID number 12-04-079 Rel. CLINICAL CHARACTERISTICS gene MMR MUTATION LOE IHC##
Age of EC diagnosis Type EC grade EC stage EC MSI$ Other tumor sites** cancer phenotype DNA change protein change LOVD ID*** NGS confirmed
11 D 38 endometrioid 1 1a I poor MSH2 c.244A >T p.Lys82* MSH2_00750 YES na
12 D 46 endometrioid 3 1b S poor MSH2 c.244A >T p.Lys82* MSH2_00750 YES na
16 D 38 na na na na C-29;C-43 poor MSH2 c.244A >T p.Lys82* MSH2_00750 YES na
17 E 46 endometrioid na na S poor MSH2 c.212–2A >G splice alteration MSH2_000724 YES na
19 E 53 na na na na neutral MSH2 c.212–2A >G splice alteration MSH2_000724 YES na
26 F 49 endometrioid 1 1a na poor MSH6 c.1139_1143delATGAG p.Asp380Alafs*6 MSH6_008335 YES na
28 F 55 endometrioid 1 1b na neutral MSH6 c.1139_1143delATGAG p.Asp380Alafs*7 MSH6_008335 YES na
18 G 44 endometrioid 1 na I poor MLH1 c. 2149_2195dupl p.His733Asnfs*66 MLH1_00830 NO1 na
29 G 39 na na na na O-na poor MLH1 c. 2149_2195dupl p.His733Asnfs*66 MLH1_00830 NO1 na
2 A 52 endometrioid 2 1b S neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES na
3 A 65 serous 3 1c I C-59 poor MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
6^ B 51 endometrioid 1 1b S neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES na
7 B 62 endometrioid 3 2 I C-70;U-81 poor MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
8 C 54 endometrioid 1 1a I neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
9 C 52 endometrioid 1 1 S B-na poor MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES na
1 - 50 endometrioid 1 2 I neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
4 - 57 endometrioid 3 na I neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
5 - 62 endometrioid 1 1b I neutral MSH6 c.3729_3732dupATTA p.Phe1245llefs*313 MSH6_00330 YES Y
10 - 40 endometrioid 1 na na O-40 poor MSH6 c.1444 C >T p.Arg482* MSH6_000666 YES na
13 - 81 na na na na C-59 poor PMS2 c.989–296_1144+706del p.Glu330_Glu381del PMS2_00039 NO1 na
14 - 31 na na na na poor MSH6 c.3772 C >T p.Gln1258* MSH6_002597 YES na
15^ - 49 endometrioid 1 3 S O-49 poor MSH6 c.2569_2572del p.Asp857Phefs10* MSH6_00326 YES Y
20 - 56 endometrioid na na S B-50 poor MSH6 c.2191C >T p.Gln731* MSH6_000928 YES na
21 - 58 endometrioid 1 1b I C-58 poor MLH1 c.901C >T p.Gln301* MLH1_00407 YES Y
22 - 60 endometrioid 1 3 na neutral MSH6 c.2815 C >T p.Gln939* MSH6_00465 # na
23 - 49 endometrioid 1 1b I poor PMS2 c.24–12_107del96 p.Ser8Argfs5* PMS_00205 NO1 Y
24 - 61 endometrioid 3 1b I C-56 poor MSH6 c.4002–22_4002–4del19 splice alteration MSH6_00335 YES Y
25 - 44 endometrioid 1 na I poor MSH6 c.3838C >T pGln1280* MSH6_00554 # Y
27 - 40 na na na S poor MSH2 c.212-?_366+?del p.Ala72Phefs*9 MSH2_00076 NO1 na
30 - 71 endometrioid 2 3 I neutral MSH2 c.646–2A >G splice alteration MSH2_00751 NO2 na
31 - 50 mixed 3 1b I neutral MSH6 c.2191C >T p.Gln731* MSH6_00092 YES Y
32 - 64 endometrioid 1 1a S neutral MSH6 c.2926_2929dupCGTT p.Tyr977Serfs*8 non-deposited YES Y
33 - 49 endometrioid 1 1b I poor MSH6 c.1804_1805del2 p.Ser602Lysfs*4 non-deposited YES Y
34 - 75 endometrioid 1 1b na C-na poor MSH6 c.3794_3801del8 p.His1266Metfs*6 non-deposited YES na
35 - 64 endometrioid 1 1b I neutral MSH6 c.3949_3965del17 p.His1317Ilefs*2 non-deposited NO1 Y
37 - 53 na na na na C-52 poor MSH2 c.1203dup p.Gln402Thrfs*15 MSH2_00896 YES na
38 - 55 endometrioid 2 1 I neutral MSH6 c.3185G >T p.Cys1062Phe MSH6_00885 NO2 na

Rel.: the same letters indicate a familial relationship.

$

MSI: microsatellite instability in endometrial cancer specimen. S= stable; I = instable.

**

C-n = colorectal cancer-age at diagnosis; O-n = ovarian cancer-age at diagnosis; B-n = breast cancer-age at diagnosis; U-n = tumor of urinary tract-age at diagnosis.

***

LOVD ID: mutation is deposited with the indicated number in the Leiden Open Variation Database.

#

NGS was of poor quality and sample was excluded from further analyses.

##

LOE of MMR: loss of expression of MMR protein in endometrial cancer specimen. Y = loss of expression; N = no expression loss.

^

samples were subjected to NGS twice to assess reproducibility.

1

large rearrangements could not be detected by our pipeline.

2

no sufficient coverage of the specific region in this sample.

3

this is a founder mutation.

4–8

Mutations are also deposited in the dbSNP database: 4 = rs267607917; 5 = rs142111387; 6 = rs63750909; 7 = rs63750554; 8 = rs63751442.

na: non-available/non-analyzed.