Article
Systematic search for rare variants in Finnish early-onset colorectal cancer patients.
Cancer genetics - 1 Jan 2000
Tanskanen Tomas, Gylfe Alexandra E, Katainen Riku, Taipale Minna, Renkonen-Sinisalo Laura, Järvinen Heikki, Mecklin Jukka-Pekka, Böhm Jan, Kilpivaara Outi, Pitkänen Esa, Palin Kimmo, Vahteristo Pia, Tuupanen Sari, Aaltonen Lauri A
Abstract excerpt
The heritability of colorectal cancer (CRC) is incompletely understood, and the contribution of undiscovered rare variants may be important. In search of rare disease-causing variants, we exome sequenced 22 CRC patients who were diagnosed before the age of 40 years. Exome sequencing data from 95 familial CRC patients were available as a validation set. Cases with known CRC syndromes were excluded. All patients...
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