Molecular Genetics - Hereditary Cancer Syndromes --- Center for Human Genetics

Hereditary Cancer
Syndromes

Molecular Genetics - Hereditary Cancer Syndromes


disease	OMIM disease	gene OMIM (analysis methods¹)	localisation
Hereditary Cancer Syndromes
Contact: Prof. Dr. Bernhard Weber, Fachhumangenetiker (GfH) ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑ e-mail

Cowden-Syndrome	158350	PTEN	10q23.31
Familial Adenomatous Polyposis (FAP)	175100	APC	5q22.2
Familial Breast and Ovarian Cancer	114480	BRCA1	17q21.31
Familial Breast and Ovarian Cancer	114480	BRCA2	13q13.1
Hereditary Melanoma	155601	CDKN2A	9p21.3
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)	120435	MLH1	3p22.2
		MSH2	2p21
		MSH6	2p16.3
MYH-associated polyposis	608456	MUTYH	1p34.1
Li-Fraumeni Syndrome	151623	TP53	17p13.1
Von-Hippel-Lindau-Syndrome	193300	VHL	3p25.3

Routinely analysis is performed by sequencing, additional methods are indicated as follows:

FISH

Fluorescence in situ Hybridisation

MLPA

3 kb-founder-insertion