Centro Nacional de Investigaciones Oncológicas (Spanish National Cancer Research Centre)

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Home > National Health System Support Services: Familial Cancer

• Request Form (110 KB)
• Presentation
• Familial Cancer Consultancy
• Hereditary and Familial Cancer
• Appendix 1
  • a. Entities with autosomal dominant inherintance, in which the genetic analysis affects the clinical management
  • b. Entities with autosomal dominant inheritance, in which the genetic analysis has potential clinical value
  • c. Entities with autosomal recessive inheritance
  • d. Other entities with predisposition to cancer

b. Entities with autosomal dominant inheritance, in which the genetic analysis has potential clinical value

Pathology	Incidence	Gene	Locus
Tuberous Sclerosis or Bourneville disease	1/30.000	TSC1 TSC2	9q34 16p13.3
Familial melanoma	1/10.000	CDKN2A CDK4	9p21 12q14
Neurofibromatosis 1	1/3.500	NF1	17q11.2
Neurofibromatosis 2	1/40.000	NF2	22q12.2
Familial Paraganglioma	Rare	SDHB SDHC SDHD	1p36.1-p35 1q21 11q23
Juvenile polyposis	1/100.000	SMAD4 BMPR1A	18q21.1 10q22.3
Beckwith-Wiedemann Syndrome	1/14.000	1/14.000	11p15.5
Birt-Hogg-Dubé Syndrome	Rare	BHD	17p11.2
Gorlin Syndrome	1/57.000	PTCH	9q22.3
Li-Fraumeni Syndrome	Rare	TP53	17p13.1
Peutz-Jeghers Syndrome	1/120.000	STK11	19p13.3
Familial Wilms Tumor	1/10.000	WT1	11p13

In these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene and of developing cancer during their lifetime.