Supplemental Table 1.Included Cohort studies and one meta-analysis in chronological order (3;14;23-41).

Study(ref); site; yr / No. pts / fam / Age pts (yr) / Inclusion criteria‡ / Muta-tion / Follow-up (yr) / Con-firm.Ca* / Cancer
-no. pts
- no. Ca / Age onset Ca (yr) / Outcome measure / Remarks
Mehenni M Switzer-land '07 (25) / 170 / 46
(153F) / - / a + c; or
a + d / 107 / 170 / m 20.5 yr
(7-34) / 1 / 25 / 170
27 / 25 / M 36
m 32
r 5-58 / None / Collaborative study; Switzerland, Italy, Spain, Portugal, Turkey, Iran, Israel, Morroc, India, Brazil, USA.
Mehenni
(= M) Switzer-land ‘06(24) / 149 / 41
(133 F) / - / a + c / 149 / 149 / - / 1 / 29 / 149
32 / 29 / - / CRs according to age, sex, and tumor. / Excl. non-melanotic skin cancer. Collaborative study; Switzerland, Italy, Spain, France, Portugal, Turkey, Brazil, USA Iran, Israel, Algeria, Morroc, Korea, Japan.
Hearle (= H)UK ‘06(23) / 419 / 225
(287 F) / - / a + min. 2 of:b,c,d§ / 279 / 419 / - / 1 or 2 / 85 / 419
96 / 85 / - / CRs according to age and tumor / Excl. non-melanotic skin cancer. Collaborative study; UK, France, Netherlands, Germany, Australia, USA
Schumacher HGermany
‘05(26) / 88 / 41
(71 F) / P:M 37, m 35,
r 12-68 / a + one of;
b, c, d°. / 63 / 88 / - / 1 / 19 / 88
21 / 19 / M 48
m 45
r 14-78 / None / Also review literature genotype – phenotype (cancer) analysis.
Amos USA ’04 (27) / 29 / 29
(15 F) / "rel. young" / a + c (n=19); or b + c (n=10) / 22 / 29 / - / 4 / 4 / 29
4 in 4 / - / None / Only probands with confirmed or likely PJS diagnosis included.
Lim H UK ‘04(28) / 240 / 101
(188F) / - / e (& a + c) / 240 / 240 / - / 1 or 2 / 47 / 240
54 / 47 / - / CRs according to age and tumor / Excl. non-melanotic skin cancer. Collaborative study; UK, France, Netherlands, Australia, USA
Lim H UK ’03 (29) / 71 / 33
(51 F) / P:M 39, m 39, r 15-65 / a + min. 2 of:b,c,d§ / P: 17 / 33 / 2120 pers-yr at risk / 1 or 2 / 11 / 71
11 / 11 / M 41
m 43
r 6-67 / CRs and SMRs / CRs and SMRs calculated on basis of 70 pts (excl. Setroli cell tumor testis)
Study (ref); site; yr / No. pts / fam / Age pts (yr) / Inclusion criteria‡ / Muta-tion / Follow-up (yr) / Con-firm. Ca* / Cancer
-no. pts
- no. Ca / Age onset Ca (yr) / Outcome measure / Remarks
Scott H Australia ‘02 (30) / 14 / 14
(5 F) / M 27
m 27
r 4-65 / a + b / 7 / 14 / - / 4 / 1 / 14
1 / 1 / - / None / 3/7 pathogenic mutations, 3/7 unclassified variants, 1/7 polymorfisms.
Olschwang H France ‘01(31) / 63 / 34
(41 F) / - / a + b / 24 / 34 / - / 4 / 19 / 63
19 / 19 / Min 8 < 50 yr / None / 17/24 mutations pathogenous.
Giardiello (=G) USA '00 (14) / 210 / 79 / - / variable / NA / 5059.11
pers-yr / 1 / 66 / 219 / M 43
10 SD / CRs &RRs according to age & tumor / Meta-analysis: 6 cohort studies included.
ChoiKorea ’00(32) / 30 / 30
(14 F) / m 24
r 8-70 / b + c + d / NA / - / 1 / 5 / 30
5 / 5 / M 36 / RR any cancer
WestermanH NL '99 (33) / 22 / 1 / M 39,
m 40, r 0-80 / a + b + c (+d) / 6 / 6 / 78 yr / 1 / 7 / 22 / - / None / Ages displayed in decades.
M age cancer death 50 yr.
WestermanG,H NL '98 (34) / 61 / 21 / - / a + b + (c and / or d) / NA / - / 1 / 17 / 61 / M 46
M GI-Ca 48 / CRs according to age and tumor / Abstract.
Boardman G,H USA '98 (35) / 34 / 31 / - / a + min. 2 of: b, c, d§ / NA / m 20 yr;
704 pers-yr / 1 / 18 / 34
26 / 18 / M 39
m 38
r 16-59 / RR's according to tumor & sex. / Only non-cutaneous cancers.
Pers-yrs from first PJS symptom to cancer.
Hizawa, Japan '93 (36) / 8 / 6 / M 32
m 28
r 19-60 / a + b + c (+ d in 7 / 8) / NA / Max 12 yr / 1 / 4 / 8
4 / 4 / M 40
m 38
r 25-60 / None
Spigelman G,H UK '89 (37) / 72 / - / - / a + c / NA / - / 4 / 16 / 72
17 / 16 / M 38
m 38
r 26-57 / RR cancer death and cum survival / 66 / 71 pts included in risk-analyses.
Study (ref); site; yr / No. pts / fam / Age pts (yr) / Inclusion criteria‡ / Muta-tion / Follow-up (yr) / Con-firm. Ca* / Cancer
-no. pts
- no. Ca / Age onset Ca (yr) / Outcome measure / Remarks
Foley G USA '88(38) / 12 / 1 / M 41
m 38
r 12-70 / c + d (+ 11x b) / NA / 49 yr / 1 or 4 / 2 / 12
2 / 2 / 27 and 40 yr / None / Harrisburg family (Jeghers). Also reported by Bartholomew et al. ’62 (66).
Giardiello G,H USA '87 (39) / 31 / 13 / M ≈ 38 / a + min. 2 of: b,c,d (n = 23)§ ; or min. 2 of:
b,c,d (n = 8). / NA / M 21 yr  15 SD ; 622 pers-yr / 1 / 15 / 31
15 / 15 / M 50
m 50
r 38 - 70 / RRs according to sex and age (< / > 40 yr)
Burdick GUSA '82(40) / 8 / 1 / M 29
m 29
r 9-61 / c + d (+ 6x a) / NA / 27 yr
(1/12 - 27 yr) / 1 / 2 / 8
3 /2 / M 44
m 38
r 36-57 / None
(Ca freq 25%) / Also reported by Burdick et al. ’63 (67).
Linos HUSA ‘81 (41) / 21 / 21
(11 F) / - / a + c / NA / m 33 yr
(1-45) / 4 / 6 / 21
6 / 6 / - / Survival-anlysis / Only patients with definite PJS diagnosis included.
UtsunomiyaJapan '75 (3) / 102 / - / - / - / NA / - / 1 / Cancer deaths: 17 / 102 / 4 <30 yr
13 >30 yr / Survival rate / Cancer deaths instead of incidence reported.

Overlap between publications:

G = included in meta-analysis Giardiello et al. 2000 (14),H = included in Hearle et al. 2006 (23),M = included in Mehenni et al. 2006 (25).

Yr = year(s). Pers-yr = person-years. No. = number. Pts = patients. Ca = cancer(s). M = mean, m = median, r = range.

P = proband(s). F = Familial. NA = not analyzed. GI = Gastrointestinal.

CR = Cumulative risk (%). RR = Relative risk. Freq = frequency. SMR = standardized mortality ratio.

§ = Clinical criteria Giardiello (39). ° = Tomlinson criteria (15).

Inclusion criteria‡:

a = hamartomas (histologically), b = small-bowel polyposis, c = mucocutaneous pigmentation, d = family history PJS, e = STK11 mutation.

Confirmation cancer*: 1 = histology, 2= medical record, 3 = history, 4 = unknown.