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Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome… Click to show full abstract
Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice for surveillance and genetic counseling of patients and their relatives.
Keywords:
mlh1;
variant;
young japanese;
japanese patient;
lynch syndrome
Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!