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Hereditary diseases

Hereditary diseases

IVDR: the new era of diagnostic services

Background information on in vitro diagnostic services Laboratory-based testing methods and medical devices play a critical role in diagnosis and medical decision-making. Indeed, different tests, ..

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ASCO-SSO new guidelines for germline testing in patients with hereditary breast cancer

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendations for hereditary breast cancer genetic testing (1)..

Hereditary diseases

Rare diseases revealed: Explaining, understanding, and raising awareness on rare disease day

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day – February 29. Since then, it is celebrated each..

Hereditary diseases

Web’s most frequently asked questions about cancer

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Following our video that explains the basics of cancer,..

Hereditary diseases

What is cancer?

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten million deaths in 2020 (1). Understanding the caus..

Hereditary diseases

Liquid biopsy: a game-changer for cancer diagnosis and therapy

Liquid biopsy is a novel, non-invasive blood test that enables healthcare providers to discover a range of information about a tumor, such as early cancer detection, genetic alterations that lead to ..

Hereditary diseases

Fetal heart development and congenital heart defects

The human heart, the center of the cardiovascular system, is a fist-size organ divided into four chambers: two atria and two ventricles. These are controlled by electrical impulses which cause them t..

Hereditary diseases

Spinal muscular atrophy: A race against the clock

Every movement our body makes is controlled by a long, thin, tube-like structure called the “spinal cord”. The spinal cord is part of our nervous system, and it connects our brain to our lower ba..

Hereditary diseases

Clinically significant prognostic and therapeutic pathogenic variants identified in advanced prostate cancer patients

A recent article published by our team in the International Journal of Molecular Sciences [1], aimed to evaluate the prevalence, prognostic and predictive values of gene mutations in patients with pr..

Hereditary diseases

Pancreatic cancer—The silent killer

All about the pancreas The pancreas is a pear-shaped organ that is located at the upper left side of the abdomen, behind the stomach. It has two main functions—exocrine and endocrine—which are..

Hereditary diseases

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