A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer.
Carolina PiresInês Jorge MarquesDaniela DiasAna SaramagoValeriano LeiteBranca Maria CavacoPublished in: Endocrine (2021)
We identified a founder CHEK2 pathogenic variant, which is likely to underlie thyroid cancer and other cancer manifestations in the Roma population.