case report: DH1 mutated low grade astrocytoma (brain) occurring in MSH2 mutated Lynch syndrome family

open access (Ontario case report - North York/Sunnybrook)

2. Case and methods

A 72 year old man had a previous diagnosis of colorectal carcinoma and a family history of LS that included: colorectal carcinomas in his father, brother, niece and several paternal aunts and uncles, breast carcinoma and multiple sebaceous adenomas in his sister and ureteric carcinoma and melanoma in his brother. Some family members met criteria for the Muir–Torre variant of LS but our patient did not and no previous family members had a brain tumour/Turcot syndrome. An MSH2 mutation was found in the patient, his niece and sister (560 T $_amp_$gt; C, exon 3).....