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

a. Entities with autosomal dominant inheritance, in which the genetic analysis affects the clinical management

Pathology	Incidence	Gene	Locus
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome	1/200-1/1.000	MSH2 MLH1 MSH6 PMS1 PMS2 MLH3 TGFBR 2	2p21-p22 3p21.3 2p16 2q31-q33 7p22 14q24.3 3p22
Hereditary breast / ovarian cancer (HBOC)	1/500-1/2.500	BRCA1 BRCA2	17q21.1 13q12.3
Multiple endocrine neoplasia, type 1 (MEN 1)	2- 10/100.000	MEN1	11q13
Multiple endocrine neoplasia, type 2 (MEN 2)	1/25.000	RET	10q11.2
Familial adenomatous polyposis (FAP)	1/6.000-1/13.000	APC	5q21-q22
PTEN-hamartomas syndrome	1/200.000	PTEN	10q23.31
von Hippel-Lindau syndrome	1/36.000-1/45.000	VHL	3p25-p26
Hereditary retinoblastoma	1/13.500-1/25.000	RB1	13q14.1

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.