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Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumors gliomas...

Poland syndrome

Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognized cause of unilateral hyperlucent hemithorax.  Epidemiology Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimat...

Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...

Stewart-Treves syndrome

Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphedema 1. It was classically attributed to lymphedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in chronically lymphedematous regions of any cause 2.  The incidence is ...

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