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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

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first-trimester spontaneous pregnancy loss [1]. The aim..

Hereditary diseases

A new genome screening study reveals cancer genes and genomic signatures that affect patient outcomes and can help in personalized cancer therapy

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized therapy for cancer patients by integrating genetic wi..

Hereditary diseases

Non-Invasive Prenatal Testing (NIPT): Current guidelines

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are estimated to affect approximately 1 in 150 live bi..

Hereditary diseases

Medicover Genetics posters at ESHG 2023

In June 2023, Medicover Genetics attended the 56th conference of the European Society of Human Genetics (ESHG) which took place in Glasgow, Scotland. The ESHG conference, which is organized annually,..

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

New genetic etiology in teenage-onset colorectal cancer identified

Colorectal cancer (CRC) in adolescents and young adults (AYA) is rare. Genetic causes include autosomal recessive and dominant monogenic disorders due to pathogenic variants (PVs) in genes involved i..

Hereditary diseases

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications for health, disease, and drug response. The study, published ..

Hereditary diseases

Medicover Genetics posters at ESHG 2022

Medicover Genetics attended the 55th edition of the largest genetics conference in Europe, European Human Genetics Conference, held in Vienna, from 11 to 14 June 2022. The main goal of the confe..

Hereditary diseases

Genome-wide association study (GWAS) identified 69 loci associated with beat synchronization

69 distinct genetic variations associated with the ability to keep in time with a musical beat (also called beat synchronization ability) have been discovered by an international team of researchers...

Hereditary diseases

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