Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location

Hereditary Cancer Syndromes (Weber lab, phone: +49-941-944-5424)

Cowden-Syndrome 158350 PTEN 601728 10q23.31
Familial adenomatous polyposis (FAP1), autosomal-dominant 175100 APC 611731 5q22.2
Familial adenomatous polyposis 2 (FAP2), autosomal-recessive 608456 MUTYH 604933 1p34.1
Familial Breast and Ovarian Cancer 114480 ATM
BRCA1
BRCA2
CDH1
CHEK2
NBN
PALB2
RAD51C
RAD51D
TP53
607585
113705
600185
192090
604373
602667
610355
602774
602954
191170
11q22.3
17q21.31
13q13.1
16q22.1
22q12.1
8q21.3
16p12.2
17q22
17q12
17p13.1
Lynparza testing   BRCA1
BRCA2
113705
600185
17q21.31
13q13.1
Hereditary Melanoma 155601 CDKN2A 600160 9p21.3
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) 120435 MLH1
MSH2
MSH6
PMS2
120436
609309
600678
600259
3p22.2
2p21
2p16.3
7p22.1
Li-Fraumeni Syndrome 151623 TP53 191170 17p13.1
Peutz-Jeghers Syndrome (currently being established) 175200 STK11 602216 19p13.3
Von-Hippel-Lindau Syndrome 193300 VHL 608537 3p25.3