Table 2.

Baseline Data for the Study Cohorts

	CC Adult Cohort	%	CC Adult Mutation Cohort	%	CC Pediatric Cohort	%	CC Pediatric Mutation Cohort	%	OSU Cohort	%	PTEN Mutation Cohort (OSU)	%
Number	2007		105		92		28		943		157
Age, median (range)	55.9 (18.0–98.2)		43.9 (3.0–78)		8.2 (1.8–16.9)		8.3 (3.0–16.9)		48.5 (1.2–91.7)		36.1 (1.7–73.1)
Gender, male	117	5.8	34	32.4	59	64	21	75	164	17.4	70	44.6
Gender, female	1890	94.2	71	67.6	33	36	7	25	779	82.6	87	55.4
Neurological
Macrocephaly, presence	538	26.8	79	75.2	87	95	28	100	385	40.8	135	86
Extreme macrocephaly (male, ≥63 cm)	15	13	11	32	2	3	2	10
Extreme macrocephaly (female, ≥60 cm)	67	4	24	34	4	12	2	29
Lhermitte Duclos disease	17	0.8	9	8.6	1	1	0	0	24	2.5	9	5.7
Autism or developmental delay	41	2	13	12.4	78	85	23	82	115	12.2	34	21.7
Breast and Gynecological
Invasive breast cancer
<30	29	1.5	1	1.4	0	0	0	0	7	0.9	2	2.3
30–39	164	8.7	6	8.5	0	0	0	0	76	9.8	6	6.9
40–49	475	25.1	13	18.3	0	0	0	0	160	20.5	10	11.5
≥50	625	33.1	14	19.7	0	0	0	0	179	23	8	9.2
Fibrocystic breast disease	849	44.9	30	42.3	0	0	0	0	269	34.5	23	26.4
Endometrial cancer									74	9.5	12	13.8
<30	11	0.6	1	1.4	0	0	0	0	2	0.3	1	1.1
30–39	23	1.2	2	2.8	0	0	0	0	7	0.9	3	3.4
40–49	50	2.6	5	7	0	0	0	0	21	2.7	7	8
≥50	171	9	5	7	0	0	0	0	44	5.6	1	1.1
Fibroids	794	42	27	38	0	0	0	0	290	37.2	18	20.7
Gastrointestinal
Colorectal cancer
<30	2	0.1	0	0	0	0	0	0	0	0	0	0
30–39	3	0.1	1	1	0	0	0	0	1	0.1	0	0
40–49	15	0.7	3	2.9	0	0	0	0	5	0.5	2	1.3
≥50	33	1.6	2	1.9	0	0	0	0	10	1.1	0	0
Polyposis syndrome (≥5)	74	3.7	36	34.3	2	2	2	7	168	17.8	51	32.5
Intestinal hamartoma, single	23	1.1	16	15.2	5	5	3	11	11	1.2	10	6.4
Intestinal hamartoma, multiplea	11	0.5	8	7.6	0	0	0	0
Intestinal ganglioneuroma, single	14	0.7	9	8.6	2	2	2	7	11	1.2	5	3.2
Intestinal ganglioneuroma, multiplea	10	0.5	7	6.7	0	0	0	0
Glycogenic acanthosis	21	1	16	15.2	1	1	1	4	14	1.5	9	5.7
Skin
Trichilemmomas, biopsy proven	13	0.6	6	5.7	0	0	0	0	112	11.9	39	24.8
Oral papillomas	160	8	16	15.2	3	3	1	4	210	22.3	72	45.9
Penile freckling	22	18.8	10	29.4	16	27	5	24	61	37.2	38	54.3
Acral keratoses	128	6.4	28	26.7	5	5	2	7	54	5.7	16	10.2
Arteriovenous malformations	19	0.9	12	11.4	4	4	2	7	14	1.5	10	6.4
Skin lipomas	528	26.3	45	42.9	25	27	13	46	336	35.6	89	56.7
Fibromas	121	6	17	16.2	0	0	0	0	2	0.2	1	0.6
Endocrine
Thyroid cancer
<20	18	0.9	5	4.8	2	2	0	0	11	1.2	3	1.9
20–29	56	2.8	3	2.9	0	0	0	0	16	1.7	1	0.6
30–39	116	5.8	7	6.7	0	0	0	0	58	6.2	4	2.5
40–49	149	7.4	8	7.6	0	0	0	0	45	4.8	3	1.9
≥50	203	10.1	4	3.8	0	0	0	0	74	7.8	1	0.6
Thyroid goiter, nodules, or adenomas	710	35.4	72	68.6	4	4	3	11	182	19.3	48	30.6
Hashimoto's thyroiditis	151	7.5	22	21	0	0	0	0	19	2	5	3.2
Genitourinary
Renal cell carcinoma	94	4.7	7	6.7	1	1	0	0	43	4.6	5	3.2
Testicular germ cell tumor	4	3.4	2	5.9	0	0	0	0	1	0.6	1	1.4
Ovarian germ cell tumor	5	0.3	2	2.8	0	0	0	0	1	0.1	1	1.1
Congenital genitourinary malformations	58	2.9	6	5.7	15	16	8	29	14	1.5	2	1.3

^aData on specific head size measurement and exact polyp number are not available in the OSU cohort. For intestinal hamartoma and ganglioneuroma, OSU data are therefore presented without breakdown.