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Hereditary Breast and Ovarian Cancer (inherited BRCA1 and BRCA2 mutations)

Lynch syndrome Hereditary NonPolyposis Colorectal Cancer (HNPCC)

Li-Fraumeni Syndrome
Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B, MEN3

Familial Melanoma
Hereditary Papillary Renal Cell Cancer

Predisposing Condition	Gene(s) involved
Ataxia-Telangiectasia	ATM MTCP1
Basal Cell Nevus Syndrome	PTCH1 SMO SUFU PTCH2
Beckwith-Wiedemann Syndrome	IGF2 CDKN1C KCNQ1OT1 WT2 KCNQ1 SLC22A18
Bloom Syndrome	BLM WRN RMI1 RMI2
Carney Complex	PRKAR1A
Costello Syndrome	HRAS
Cowden Syndrome	PTEN AKT1 SDHB KLLN SDHD more...
Denys-Drash Syndrome	WT1
Diamond-Blackfan Anaemia	RPS19
Down Syndrome	GATA1 ETS2 CHAT
Fanconi Anemia	BRCA2 FANCD2 PALB2 FANCC FANCA more...
Howel-Evans Syndrome	RHBDF2
Neurofibromatosis Type 1	NF1
Neurofibromatosis Type 2	NF2
Nijmegen Breakage Syndrome	NBN
Noonan Syndrome	PTPN11 SOS1 KRAS RAF1 NRAS CBL
Perlman Syndrome	DIS3L2
Peutz-Jeghers Syndrome	STK11 PRSS1
Rothmund-Thomson Syndrome	RECQL4
Rubinstein-Taybi syndrome	CREBBP EP300
Turcot Syndrome	MLH1 PMS2 APC MSH2 MSH6
von Hippel-Lindau Syndrome	VHL CA9 THRB FH SDHAF2 more...
WAGR Syndrome	WT1 PAX6 BDNF
Werner Syndrome

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Cite this page: Cotterill SJ. Disease Menu, Cancer Genetics Web: http://www.cancer-genetics.org/clink30.htm Accessed: