New structural variation sequencing reads long stretches of fetal DNA to pinpoint duplications, flips, and rearrangements, revealing which changes truly matter.

Genetic testing for ATTR can detect transthyretin mutations and offer crucial information about risk, monitoring, and treatment, if needed. Transthyretin amyloidosis (ATTR) is a genetic condition that ...

A new study by Mayo Clinic Comprehensive Cancer Center researchers found that the presence of a specific genetic mutation—KRAS circulating tumor DNA (ctDNA)—strongly indicates a higher risk of cancer ...

OSAKA -- A woman from Osaka Prefecture with hereditary breast and ovarian cancer syndrome (HBOC) plans to apply for approval ...

Insurance covers some genetic tests, such as BRCA tests for breast cancer, if you meet certain requirements. But there are about 70,000 different genetic tests available, and insurance coverage ...

Integrating new AI screening tools for BRCA and HRD breast-cancer mutations into routine care could lead to earlier detection, more precise treatment, and lives saved. If they are aware of the threat, ...

When it came time to start a family, Sarah Elizabeth Orlando, 33, knew she would go about it differently. Before she was born, an in-utero amniocentesis had confirmed she carried the gene for fragile ...

Women who test negative for BRCA gene mutations may still be at greater risk of developing breast cancer than the general ...

Smoking remains the leading cause of lung cancer. But a growing number of people who have never smoked are now being ...

Two years ago, at my father’s funeral, I gave a eulogy highlighting a genetic trait that runs through our family: we are ...

The BRCA1 and BRCA2 variants are associated with certain cancers.

Analysis of one million diverse genomes yields mutations associated with lower risk of diabetes, heart disease and other ...