Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Figures & data

Table 1 Chromosomal location and implications of various dominant tumor predisposing conditions

Disease	Location	Tumors	Age of tumor onset	Risk	Birth incidence	Life expectancy	References
FAP	5q	Adenomas	1st year	100%	1 in 8,600	63–70 years	1,18
		Colorectal	4–7 years	99%
NF1	17q	Neurofibroma	1st year	100%	1 in 2,600	54–72 years	2,4,5,7,11
		Glioma	1st year	12%
NF2	22q	Schwannomas	1st year	100%	1 in 33,000	62–69 years	1,15,17
		Meningioma	1st year	60%
		Ependymomas	1st year	20%
VHL	3p	Hemangioblastomas	1–2 years	90%	1 in 40,000	49–53 years	1,22–24
		Renal carcinoma	20 years	70%
MEN1	11q	Parathyroid	5 years	95%	1 in 35,000	Close to normal	30,31
		Insulinoma	5 years	95%
		Gastrinoma	5 years	95%
MEN2a	10q	Medullary thyroid	3 years	80%	1 in 40,000	Reduced
		Parathyroid	3 years	80%
		Pheochromocytoma	3 years	80%
MEN2b	10q	Medullary thyroid	1st year	100%	1 in 1,000,000	Reduced
		Pheochromocytoma	1st year	100%
Gorlin syndrome	9q	Basal cell carcinoma	5 years	90%	1 in 18,000	73.4 years	1
		Medulloblastoma	1st year	5%
Cowden	10q	Breast cancer	30 years	60%	1 in 200,000–250,000	Reduced in women	41,43,46
		Thyroid	30 years	40%
PJS	19p	GI malignancy	20 years	60%	1 in 25,000	58 years	33,34
		Breast/cervix	20 years	40%
JPS	18q, 10q	GI malignancy	20 years	40%	1 in 100,000	Reduced	37,40
LFS	17p	Sarcoma	1st year	80%	1 in 30,000	Severely reduced	47,49,75
		Breast cancer (women)	16 years	95%
		Gliomas	1st year	20%
HDGC	16q	Gastric	<40 years	70%–80%	Very rare	Reduced	55,57,60,61
		Breast (women)	>50 years	20%–40%
Lynch syndrome	2p, 3p,	Colorectal	>16 years	50%–80%	1 in 1,000–4,000	Reduced	50–54
	2q, 7p	Endometrium	>20 years	60%
		Ovary/ureter	>20 years	10%
		Gastric	>20 years	10%
		Pancreas	>30 years	5%
BRCA1	17q	Breast/ovary (women)	>16 years	60%–90%	1 in 1000	62 years
BRCA2	13q	Breast/ovary (women)	>16 years	40%–90%	1 in 800	68 years	66
		Prostate	>30 years	20%
		Pancreas	>30 years	5%

Abbreviations: FAP, familial adenomatous polyposis; NF, neurofibromatosis; VHL, von Hippel–Lindau syndrome; MEN, multiple endocrine neoplasia; PJS, Peutz–Jeghers syndrome; JPS, juvenile polyposis syndrome; LFS, Li–Fraumeni syndrome; HDGC, hereditary diffuse gastric cancer; GI, gastrointestinal.