Table 2 Mutation positive family members, type of cancer, age and gender, as well as other family cancers present in family members with unknown mutation status (all information collected from pedigrees) and whether the family fulfilled the Amsterdam II criteria.
Mutation positive family members: Family number - Cancer history (Age of diagnosis or age at last follow up) | Gender | Other family cancers (Age and relationship to proband) - mutation status unknown | Fulfilled Am II criteria |
|---|---|---|---|
MSH6_1- CRC (31) MSH6_1.1- no cancer (69) MSH6_1.2- no cancer (33) | F F M | 1 Endometrial (63-mother), 1 CRC + Oesophagus (mothers brother), 1 Ovarian (mothers sister), 1 Throat (mothers brother), 1 Stomach (mothers father), 1 CRC (grand fathers sister) | Yes |
MSH6_2- CRC (64) MSH6_2.1- no cancer (76) | M M | 1 CRC + Pancreatic (50 + 84 - mother), 1 Prostate (70-brother) | Yes |
MSH6_3- CRC (50) | F | 1 CRC × 2 (64 + 71 - mother), 1 CRC & Prostate (60s - mothers 1st cousin) | Yes |
MSH6_4- CRC(72), Endometrial (74) MSH6_4.1- CRC (37) daughter of proband MSH6_4.2- no cancer (55) MSH6_4.3- no cancer (18) | F F M F | 1 CRC (70-brother), 1 Pituitary tumour (15-brothers granddaughter), 1 Breast (60s-sister who has 1 daughter with Breast and Uterine cancer (52) and 1 daughter with Brain & Lung cancer (< 64) No cancer in parents of proband - father d.76, mother died when proband was 6 months old | Yes |
MSH6_5- CRC (58) | F | 1 CRC (63-mother), 3 CRC (67+78+55 - maternal half siblings), 1 Endometrial (67-maternal half sister), 1 Liver (32-maternal half brother), 2 CRC (40+53-half brothers children) | Yes |
MSH6_6 - no information available MSH6_6.1- no information available MSH6_6.2- no information available | F F F | No pedigree available | Unknown |
MSH6_7- CRC (41) | M | 1 Hodgkins Lymphoma (13-niese), 1 Bladder (fathers sister who has 2 daughters with Cervical cancer and a grandson with Lung cancer (19), 1 Prostate (fathers brother), 1 Breast (40s-fathers sister), 1 CRC (70s-grandfather who has 2 brothers with cancer of Unknown origin). No cancer in parents of proband - age 65 + 67. | Yes |
MSH6_8- CRC (?) MSH6_8.1- Ovarian (49) MSH6_8.2- no cancer (59) MSH6_8.3- no cancer (29) MSH6_8.4- Appendix (14) | M F F M F | No pedigree available | Unknown |
MSH6_9- Bladder (69), Endometrial (71), Thyroid (72) | F | 1 Lymphoma (77-brother), 1 CRC + Prostate (81 + 75 - brother), 1 Unknown (42 - son) No cancer in parents of proband - mother d.77, father d.73 | Yes |
MSH6_10- CRC (21), Non-Hodgkin Lymphoma (6) MSH6_10.1- Endometrial (68), paternal grandmother MSH6_10.2- Non Hodgkin Lymphoma (28), paternal aunty MSH6_10.3- no cancer (65) | F F F F | 1 CRC (70s-grandmothers uncle), 1 Breast (60-grandmothers uncle who has 1 daughter with Ovarian cancer but who is mutation negative), 1 CRC (41-grandmothers sister's son who is also mutation negative), 2 Breast cancer (53+? - grandmothers sister and grandmothers aunt, both are mutation negative) | Yes |
MSH6_11- CRC (40) MSH6_11.1- no cancer (64) MSH6_11.2- no cancer (38) MSH6_11.3- no cancer (39) MSH6_11.4- no cancer (31) | M M F F F | 1 CRC (63-sister), 1 Prostate (56-brother), 1 Throat (maternal grandfather) No cancer in parents - mother d.60s, dad d.70s | No |
MSH6_12- no cancer (44) | M | 3 Endometrial (mother and maternal aunt and grandmother), 2 Unknown (brothers - one of which is the proband somewhere else), 1 Unknown (maternal uncle) | No/Bethesda |
MSH6_13- Endometrial (54) MSH6_13.1- no cancer (60) MSH6_13.2- no cancer (57) MSH6_13.3- no cancer (37) MSH6_13.4- no cancer (55) MSH6_13.5- no cancer (37) MSH6_13.6- no cancer (34) MSH6_13.7- Endometrial (56), sister | F F M F M F F F | 1 CRC + Uterine (60s-mother) | Yes |
MSH6_14- no cancer (48) | M | 1 CRC + Prostate (64-father), 1 Endometrial (55-fathers sister), 1 CRC (62-paternal grandmother) | No |
MSH6_15- CRC (54) MSH6_15.1- no cancer (43) MSH6_15.2- no cancer (67) MSH6_15.3- no cancer (31) MSH6_15.4- no cancer (70) | F F F F M | 1 CRC & Ovary (47+60s - mother), 1 Endometrial/Ovarian (sister), 6 CRC (maternal uncles), 5 CRC (maternal 1st cousins), 1 Leukaemia (maternal 1st cousin), 1 Ovarian (maternal 1st cousin) | Yes |
MSH6_16- Endometrial (50), Breast (63) MSH6_16.1- Endometrial (57), Breast (61), sister | F F | 1 Breast (82-mother), 1 Breast (56-1st cousin), 1 Breast (40s-mothers 1st cousin) | No |
MSH6_17- no cancer (42) | F | 1 Endometrial (41-sister), 1 Cervix (22-sister), 1 CRC (60s-father), 1 CRC + Bladder (mothers brother), 1 Breast (52-paternal grandmother), 1 Throat (79-paternal grandfather, smoker) | Yes |
MSH6_18- CRC (43) MSH6_18.1- no cancer (23) MSH6_18.2- no cancer (20) MSH6_18.3- no cancer (55) MSH6_18.4- Endometrial (44), sister | F M F M F | 1 Lung (d.53-father), 1 Hodgkins Lymphoma (21-niese) | No/Bethesda |
MSH6_19- CRC (46+67) | M | 1 Endometrial (49-mother), 1 Thyroid (44-daughter), 2 Unknown (mothers sisters) | Yes |
MSH6_20- CRC (48) MSH6_20.1- no cancer 26) MSH6_20.2- no cancer (53) | F M F | 1 Endometrial + CRC (54+70 - mother,1 Stomach (40s-maternal grandfather) | Yes |
MSH6_21- CRC (31) MSH6_21.1- no cancer (49) MSH6_21.2- no cancer (28) MSH6_21.3- no cancer (55) MSH6_21.4- CRC (58), aunty MSH6_21.5- no cancer (37) MSH6_21.6- no cancer (60) MSH6_21.7- no cancer (38) MSH6_21.8- no cancer (29) MSH6_21.9- no cancer (33) | M F M F F F F M F F | 2 CRC (39+42 - maternal uncles), 1 Lung (d.69-dad, smoker) Mother is mutation positive but with no cancer | Yes |
MSH6_22- CRC (54) MSH6_22.1- no cancer (45) | M F | 1 CRC (48-father), 1 Ovarian (51-fathers sister), 1 CRC (34-fathers brother who has 1 daughter with CRC (52), 1 CRC (62-fathers brother uncle), 1 Breast (67-fathers sister) | Yes |
MSH6_23- Endometrial (64), Breast (70) | F | No pedigree available | Unknown |
MSH6_24- CRC (50) | F | 1 Renal (father), 1 Endometrial (fathers sister), 1 Gallbladder (fathers sister), 1 Stomach (dx 56 - grandfather) | Yes |
MSH6_25- CRC (63) | F | 1 Unknown (maternal grandfather) No cancer in parents of proband - father d.60s, mother d.80s | No |
MSH6_26- CRC (66+67) MSH6_26.1- Bladder (52), brother MSH6_26.2- no cancer (68) | M M M F | 2 CRC (59+59 - brothers), 1 Melanoma (brother) No cancer in parents of proband - both d.80s | No |
MSH6_27- CRC (38) | M | No family history of cancer | No |
MSH6_28- Endometrial (50) | F | 1 Uterine (50s - mother), 1 Unknown (mothers sister), 1 Uterus (52 - maternal grandmother), 1 ALL (son), 1 Leukaemia (82 - father), 1 Prostate (paternal grandfather) | Unknown |
MSH6_29- Ovarian (38) | F | No pedigree available | Unknown |