Clinical and Molecular Characteristics of a Female Familial Adenomatous Polyposis Patient With Adenomatous Polyposis Coli (APC) p.Arg554* Variant and the Value of Screening Her Relatives.

Familial adenomatous polyposis (FAP) accounts for 1% of all colorectal cancer cases and is an autosomal dominant trait with varying expression of the phenotype caused by a disease-causing variant in the adenomatous polyposis coli ( gene. This study aims to investigate the molecular characteristics of a patient with FAP, along with its clinical presentation, diagnosis, and treatment plan. We report a case of a 32-year-old female with a maternal history of FAP who was first diagnosed with stage IV rectal cancer.

Quantitative STAU2 measurement in lymphocytes for breast cancer risk assessment.

Although mammograms play a key role in early breast cancer detection, the test is not applicable to all women, for example, women under the age of 40. The development of a noninvasive blood test with high sensitivity and accessibility will improve the effectiveness of breast cancer screening programmes. Secretory factors released from cancer cells can induce the expression of certain genes in a large number of white blood cells (WBCs).