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

c. Entities with autosomal recessive inheritance

Pathology	Incidence	Gene	Locus
Fanconi Anemia	1/360.000	FANCA FANCB FANCC FANCD1 FANCD2 FANCE FANCF FANCG FANCI FANJ FANCL FANCM	16q24.3 Xp22.31 9q22.3 13q12.3 3p25.3 6p21-p22 11p15 9p1317q22 2p16.1
Ataxia-telangiectasia	1/30.000-1/100.000	ATM	11q22.3
Bloom Syndrome	Rare	RECQL3	15q26.1
Chediak-Higashi Syndrome	Rare	LYST	1q42.1-q42.2
Rothmund-Thomson Syndrome	Rare	RECQL4	8q24.3
Werner Syndrome	1/500.000	RECQL2	8p21-p12
Xeroderma pigmentosum	1/250.000-1/1.000.000	XPA XPC DDB2	9q22.3 3p25 11p11-p12

In these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene; whether or not they will develop cancer during their lifetime is a more complex issue, and depends on the nature of the inherited gene and/or whether the other parent is also a carrier of the mutation.