Pathogenic variants were identified in 9/33 (27%) women who underwent constitutional testing, aged 33-59 years (median 48 years), including one whose tumour was mismatch repair proficient. Most Lynch syndrome tumours were of endometrioid histological subtype.

Tumour mismatch repair deficiency identified by immunohistochemistry is a useful…[Read more]

Parkinson’s disease is a neurological disorder that causes partial or complete loss of motor reflexes and speech and affects thinking, behavior, and other vital functions affecting the nervous system. Parkinson’s disease causes impaired speech and motor abilities (writing, balance, etc.) in about 90% of patients and is often seen in older people.…[Read more]