Dafydd Gareth Evans

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Questions related from Dafydd Gareth Evans

If dominant negative mutations are well recognised in TP53, APC and ATM why have they not yet been reported in BRCA1 and BRCA2?

Germline mutations in a number of cancer predisposition genes have been reported to have a dominant negative effect reducing availability of protein from the wild type allele. As there are...

10 July 2021 924 0 View

Are individuals with nf1 at increased risk of pituitary adenoma?

The Neuro foundation in the UK has recently been asked by NICE if it would like to nominate specialists in neurofibromatosis for a guideline on paediatric pituitary adenoma. The is presumably...

01 January 1970 281 2 View

What is the real risk of primary peritoneal cancer after risk reducing bilateral salpingo-oophorectomy?

Women undergoing risk reducing bilateral salpingo-oophorectomy especially if they are BRCA1 or BRCA2 pathogenic variant carriers are warned of a residual risk of primary peritoneal cancer. A...

01 January 1970 9,581 4 View

Hereditary high grade glioma

Has anyone detected a hereditary cause in families with 3 first degree relatives with high grade glioma? We have a family with 3 siblings all with high grade glioma before age 45. No history in...

01 January 1970 9,362 1 View