FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2008

Name: Hereditary Adrenocortical Cancer

Synonym: Familial Adrenocortical Carcinoma

Mode of Inheritance: AR

Genes

ADCC#, mapped to 11p15.5
TP53, mapped to 17p13.1

Tumor features

adrenocortical cancer

Comment

A few families with affected siblings have been reported[1]. Based on loss of heterozygosity studies in the tumors in one of these families[2], there is some evidence for the involvement of the chromosomal 11p (11p15.5 ?) region which is also implicated in Beckwith-Wiedemann syndrome). Some germline TP53 mutations may strongly predispose to only adrenocortical cancer rather than to the wide tumor spectrum of Li-Fraumeni syndrome[3,4].

References

[1] Mahloudji M, Ronaghy H, Dutz W. Virilizing adrenal carcinoma in two sibs. J Med Genet 1971; 8:160-163.
[2] Henry I, Huerre-Jeanpierre C, Azoulay M, Chaussain JL, Junien C. A recessive oncogene for familial adrenocortial carcinoma (ADCC) maps to 11p. Cytogenet Cell Genet 1987; 46:629.
[3] Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, DeLacerda L, Rabin M, Cadwell C, Sampaio G, Cat I, Stratakis CA, Sandrini R. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proceedings of the National Academy of Sciences of the United States of America 2001; 98(16):9330-5.
[4] Figueiredo BC, Sandrini R, Zambetti GP, Pereira RM, Cheng C, Liu W, Lacerda L, Pianovski MA, Michalkiewicz E, Jenkins J, Rodriguez-Galindo C, Mastellaro MJ, Vianna S, Watanabe F, Sandrini F, Arram SB, Boffetta P, Ribeiro RC. Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. Journal of medical genetics 2006; 43(1):91-6.