Table 1

Features of families carrying a germline mutation in either of the MMR genes.

Patient ID

Clinical manifestations (age of onset)

Family history

Criteria used for selection


F33

Endometrial Ca (40)

mother hysterectomy at 40y-CRC at 70y, 1st brother CRC at 50y, 2nd brother CRC at 32y

AMS II

F39

CRC (50)

father stomach Ca at 64y, sister ovarian Ca at 56y, one 2nd degree relative (P) brain Ca at 47y, one 2nd degree relative (P) pancreatic Ca at 58y, 2 2nd degree relatives (P) CRC at 52y & 80y respectively

AMS II

F41

Endometrial Ca (~45)-

CRC (77)

1 daughter endometrial Ca at 45y- CRC at 58y,1 grandson died from CRC at 29y, 1 granddaughter < 5 polyps at 33y, two brothers CRC > 50y, 1 sister endometrial Ca at 26y, 1 niece endometrial Ca at 40y

AMS II

F74

CRC (42)- endometrial Ca (64)

mother endometrial Ca- CRC, brother CRC at 26y, grandmother (M) CRC, uncle (M) CRC at 37y- CRC at 54y, cousin (M) CRC at 40y

AMS II

F84

Endometrial Ca (40)

mother died from pulmonary embolism, grandmother (M) stomach Ca at 60y, 2 2nd degree relatives CRC, 1 2nd degree relative CRC-metachronous endometrial Ca

AMS II

F263

CRC (42)-

metachronous CRC (47)

mother endometrial Ca at 50y, grandfather (M) stomach Ca, 4 2nd degree relatives CRC, 1 2nd degree relative endometrial Ca at 34y

AMS II

F111

CRC (42)

father renal Ca-prostate Ca, grandfather (P) CRC, uncle (P) CRC

Revised Bethesda

F150

CRC (40)

father CRC at 48y, uncle (P) CRC at 50y

AMS I

F656

CRC (59)

father CRC at 41y, 1st sister CRC at 41y, 2nd sister CRC at 65y, grandmother (P) gynecological Ca at ?y

AMS II

F1278

CRC (33)

father CRC at 56y, grandmother (P) gynecological Ca at ?y- CRC at ~43y

AMS II

F68

CRC (28)-

metachronous CRC (44)

father prostate Ca, brother 4 polyps at 36y, 1 2nd degree relative CRC at 45y-metachronous CRC at 80y, 1 2nd degree relative duodenum adenoCa at 42y

Revised Bethesda

F1376

Ca cecum (30)

mother CRC at 50y-polyp in the female reproductive tract at ~45y, grandfather (M) CRC at ~80y, 5 2nd degree relatives CRC < 60y, 1 2nd degree relative endometrial Ca at ~50y-metachronous CRC at 65y

AMSII

1SRB

(Serbian origin)

CRC (49)

father CRC at 60y, 2 brothers CRC at 49 & 59y respectively, 1 sister endometrial Ca at 48y-metachronous CRC at 57y, 1 sister pancreatic Ca at 63y, 1 niece CRC-synchronous stomach Ca at 25y, 2 2nd degree relatives (P) CRC at 50 & 60y respectively, 1 2nd degree relative (P) bladder Ca at 60y

AMSII


* Family members written in bold italic carry the particular mutation running in the family ** (P): Paternal, (M): Maternal, CRC: ColoRectal Cancer, Ca: Cancer

Thodi et al. BMC Cancer 2010 10:544   doi:10.1186/1471-2407-10-544

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