Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer. Researchers from Radboud university medical center, Leiden University Medical Center and the Princess Máxima Center in the Netherlands report this new multi-tumor syndrome, in collaboration with international colleagues, in Cancer Cell. Nicoline Hoogerbrugge, professor of Hereditary Cancer at Radboud university medical center: “We presumed to know all multi-tumor syndromes, but we have taken yet another step in identifying cancer genes.”
Previously, Hoogerbrugge and colleagues showed that mutations in the NTHL1 gene lead to intestinal polyps that may develop into colorectal cancer. However, they observed that patients with mutations in this gene often have other types of cancer as well. In their publication, the researchers describe 17 families in which members of a single generation had mutations in the NTHL1 gene. Half of these patients developed various types of cancer during their lives, with breast cancer being particularly common.
Mutations in the NTHL1 gene are very rare. A mutation in the NTHL1 gene only leads to cancer when the mutation is inherited from both parents. The researchers estimate that this is the case in about 1 in 115,000 people. The
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