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Table 3 Details about the extra colonic cancers observed in the MSH6 patient cohort (n = 78).

From: MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

Family ID

Cancer (Age of diagnosis)

Family relationship

Mutation in family- Nucleotide Change

Family fulfilled Am II criteria

MSH6_4

CRC (72)

Endometrial (74)

Proband

c.2150_ 2153delTCAG

Yes

MSH6_8.1

Ovarian (49)

No pedigree available

c.458_627del

Yes

MSH6_8.4

Appendix cancer (14)

No pedigree available

c.458_627del

Yes

MSH6_9

Bladder (69)

Endometrial (71)

Thyroid (72)

Proband

c.3261delC

Yes

MSH6_10

CRC (21)

Non-Hodgkin Lymphoma (6)

Proband

c.1_457del

Yes

MSH6_10.1

Endometrial (68)

Probands paternal grandmother

c.1_457del

Yes

MSH6_10.2

Non-Hodgkin Lymphoma (28)

Probands paternal aunty

c.1_457del

Yes

MSH6_13

Endometrial (54)

Proband

c.3202C>T

Yes

MSH6_13.7

Endometrial (56)

Probands sister

c.3202C>T

Yes

MSH6_16

Endometrial (50)

Breast (63)

Proband

c.2976delA

No

MSH6_16.1

Endometrial (57)

Breast (61)

Probands sister

c.2976delA

No

MSH6_18.4

Endometrial (44)

Probands sister

c.3261dupC

No/Bethesda

MSH6_23

Endometrial (64)

Breast (70)

Proband

c.1404_1405delTC

Unknown (no pedigree)

MSH6_26.1

Bladder (52)

Probands brother

c.3312delT

No

MSH6_28

Endometrial (50)

Proband

c.3556+3_3556+13delGAGTTTTTTGT

Unknown

MSH6_29

Ovarian (38)

Proband

c.620del

Unknown (no pedigree)