| Chapter title |
Rare Hereditary Cancers
|
|---|---|
| Chapter number | 7 |
| Book title |
Rare Hereditary Cancers
|
| Published in |
Recent results in cancer research Fortschritte der Krebsforschung Progrès dans les recherches sur le cancer, April 2016
|
| DOI | 10.1007/978-3-319-29998-3_7 |
| Pubmed ID | |
| Book ISBNs |
978-3-31-929996-9, 978-3-31-929998-3
|
| Authors |
Lalloo, Fiona, Fiona Lalloo |
| Editors |
Gabriella Pichert, Chris Jacobs |
| Abstract |
About 30 % of phaeochromocytomas or paragangliomas are genetic. Whilst some individuals will have clinical features or a family history of inherited cancer syndrome such as neurofibromatosis type 1 (NF1) or multiple endocrine neoplasia 2 (MEN2), the majority will present as an isolated case. To date, 14 genes have been described in which pathogenic mutations have been demonstrated to cause paraganglioma or phaeochromocytoma . Many cases with a pathogenic mutation may be at risk of developing further tumours. Therefore, identification of genetic cases is important in the long-term management of these individuals, ensuring that they are entered into a surveillance programme. Mutation testing also facilitates cascade testing within the family, allowing identification of other at-risk individuals. Many algorithms have been described to facilitate cost-effective genetic testing sequentially of these genes, with phenotypically driven pathways. New genetic technologies including next-generation sequencing and whole-exome sequencing will allow much quicker, cheaper and extensive testing of individuals in whom a genetic aetiology is suspected. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 14% |
| Student > Doctoral Student | 3 | 14% |
| Researcher | 3 | 14% |
| Student > Master | 2 | 10% |
| Student > Ph. D. Student | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 7 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 52% |
| Arts and Humanities | 1 | 5% |
| Psychology | 1 | 5% |
| Biochemistry, Genetics and Molecular Biology | 1 | 5% |
| Unknown | 7 | 33% |