Unraveling the mystery of hereditary diffuse gastric cancer

Gastric cancer, a formidable foe in the global health arena, casts a long shadow over millions of lives each year. While its tendrils reach far and wide, a distinct subset – hereditary diffuse gastric cancer (HDGC) – emerges as a particularly aggressive and enigmatic adversary.

Unravelling the secrets of HDGC has led scientists to a crucial player: the CDH1 gene. This gene, the blueprint for a protein called E-cadherin, acts as the glue that binds cells together, forming the tight-knit communities that make up healthy tissues. The study is published in eGastroentrology.

Mutations in CDH1 disrupt this delicate dance, causing cells to lose their grip and embark on a journey of uncontrolled growth – the hallmark of cancer. Over 100 unique mutations in CDH1 have been identified, each a discordant note in the symphony of a healthy genome. In roughly 40% of families burdened by HDGC, these mutations act as the conductor, orchestrating the tragic progression of the disease.

However, the story of HDGC is not solely etched in the pages of the CDH1 gene. Other players, like CTNNA1 and MAP3K6, join the chorus, adding layers of complexity to the genetic landscape of this cancer. Like a misplaced instrument, each gene mutation contributes to the disharmony that defines HDGC.

Understanding this intricate interplay of genetic factors remains a key challenge, but it holds immense promise for unlocking new avenues of prevention and treatment.

Reference: Unraveling the mystery of hereditary diffuse gastric cancer; eGastroenterology, DOI: 10.1136/egastro-2023-100017