Skip to main content

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.

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

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