Investigation By Condition/Syndrome

Conditions and Syndromes

Familial Breast Cancer

Introduction

Mutations in the germ-line of predisposition genes account for approximately 5-10% of women affected with breast cancer. Two genes BRCA1 and 2 account for the majority of familial cases.

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BRCA1/2 mutation screening in FFPE samples to assist in the management of familial breast/ovarian cancer

Introduction

The management of families at high risk of having an inherited BRCA1/2 mutation where there is no living affected relative and/or no DNA sample is available, may benefit from BRCA1/2 mutation testing of archive pathology material. The test has been designed to perform on DNA extracted from typical formalin fixed paraffin embedded (FFPE) tissue specimens. BRCA1/2 mutation screening of FFPE tissue can identify germline pathogenic BRCA1/2 mutations in deceased relatives and a negative result can also reduce the likelihood that a pathogenic BRCA1/2 mutation is present in the family.

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Neurofibromatosis type 2 (NF2)

Introduction

NF2 is an autosomal dominant cancer syndrome affecting approximately 1 in 40,000 individuals and is characterized by the formation of multiple benign nervous system tumours, most commonly bilateral schwannomas of the vestibular nerve. NF2 is caused by mutations in the schwannomin/merlin tumour suppressor gene located on chromosome 22q12.2.

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Atypical Neurofibromatosis Type I

Introduction

Neurofibromatosis is an autosomal dominant tumour predisposition syndrome characterized by café au lait spots and fibromatous tumors of the skin. A subset of patients present with NF1 like symptoms which may be due to segmental NF1 mosaicism or to mutations in the SPRED1 gene.

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Hereditary Non-Polyposis Colon Cancer (HNPCC)

Introduction

HNPCC is an autosomal dominant disorder with a high penetrance rate. It affects 1 in 4,000 people in the UK and accounts for 1% of all colorectal cancer cases. Allelic heterogeneity and phenocopies occur. At least six mismatch repair genes may be involved in HNPCC pathology. Germ line mutations in the MLH1 and MSH2 genes have been estimated to be responsible for approximately 60-70% of HNPCC cases.

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Schwannomatosis; Atypical Familial Rhabdoid Tumour (INI1, SMARCB1)

Introduction

Schwannomatosis is a tumour predisposition syndrome showing autosomal dominant inheritance. There is clinical overlap between schwannomatosis and NF2. Diagnostic criteria for schwannomatosis include 2 or more pathologically proved schwannomas and lack of radiographic evidence of vestibular nerve tumor at age more than 18 years (Jacoby et al 1997). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age.

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