Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis
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چکیده
منابع مشابه
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoin...
متن کاملGermline mutation of the tumour suppressor PTEN in Proteus syndrome.
Proteus syndrome (PS, OMIM 176920) is a hamartomatous disorder characterised by overgrowth of multiple tissues, connective tissue and epidermal naevi, and vascular malformations. These presentations are usually apparent at birth or soon after and continue to develop as the patient ages. It is named after the Greek god Proteus who, legend has it, could change his shape at will to avoid capture. ...
متن کاملOriginal articles A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-RileyRuvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurri...
متن کاملA novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurr...
متن کاملLifetime cancer risks in individuals with germline PTEN mutations.
PURPOSE Age-adjusted cancer incidence and age-related penetrance studies have helped guide cancer risk assessment and management. PTEN hamartoma tumor syndrome (PHTS) is a term encompassing subsets of several clinical syndromes with germline mutations in the PTEN tumor suppressor gene. We conducted the first prospective study to clarify corresponding cancer risks to shed biologic insights on hu...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.5.765