Nearly 35 years ago, in 1990, noted geneticist Mary-Claire King was the first person to show that a germline mutation—in this case in the BRCA1 gene—can cause a person to inherit a much higher risk of developing cancer. This first discovery in breast cancer opened the doors to the identification…

Genetic testing could determine which young breast cancer survivors are at highest risk of a second primary breast cancer (SPBC) and thus help others avoid unnecessary treatment, according to a new study. Their findings suggests young breast cancer survivors without a germline pathogenic variant have a low risk of developing…

A new process tested at University of Kentucky (UK) expands access to germline genetic testing for cancer patients by reporting research-grade germline sequencing to the clinical oncology team. Over a third of pathogenic/likely pathogenic germline variants (PGVs) identified using a universal testing strategy would have been missed by a guideline-based…

Medical genetics company Invitae announced that data from its PROCLAIM clinical trial shows the benefit of pathogenic germline variant (PGV) testing for all prostate cancer patients. According to the data, nearly half of all prostate cancer patients with clinically actionable inherited PGVs could be missing out on vital, targeted care…

A large-scale, longitudinal, study found that less than seven percent of cancer patients received germline genetic testing, even though it is recommended by practice guidelines to support targeted treatment and inform health decisions by relatives. The authors, who included researchers from Stanford and University of Michigan, noted that genetic testing…

New evidence shows that germline-somatic associations can affect cancer development. In a large-scale analysis of data from the Dana-Farber Cancer Institute across 11 cancer types, researchers found that certain variants were associated with a decreased risk of somatic mutations, while others were linked to a higher risk. This study appeared…

Researchers from Spain have identified rare inherited genetic variants that predispose some individuals to developing mutations in tissues and organs. These mutations may in turn increase the risk of tumor formation. The researchers detailed their results in a Nature Communications article entitled “The impact of rare germline variants on human somatic mutation…

Immune therapy with checkpoint inhibitors against  PD-L1 and PD-1 is usually considered fairly gentle treatment in the cancer treatment field as far as side effects. But up to 30% of patients receiving them can develop serious toxicity, particularly when used in combination treatments. To help identify those patients ahead of…

Differences in the rate that germline mutations accumulate in healthy young adults could help predict relative lifespan in both sexes and the remaining years of fertility in women, according to the results of research by scientists at the University of Utah (U of U) Health. Their study, believed to be…

A new study from investigators at Brigham and Women’s Hospital and Harvard Medical School sheds new light on the risk of developing long-term diseases and overall human lifespan. The researchers found that the combined effects of rare, damaging mutations present at birth have a negative impact on healthspan and longevity.…

Researchers from the University of Virginia School of Medicine have learned that germline mutations, or inherited gene variations, are associated with cancer prognosis during and after treatment. Using genetic data from cancer patients, the team showed that each single genetic factor, as well as tumor grade, stage, and type, along…

A task force of the Alliance for Regenerative Medicine (ARM) consisting of gene-editing therapy developers today sided with the emerging scientific consensus against germline gene editing in human clinical research without coming to terms with legal, ethical, and other implications—part of a statement intended to articulate a bioethical framework for…

Nearly six months after He Jiankui, Ph.D., stunned the world by disclosing, then defending, his controversial germline editing research resulting in the birth of twins, the U.S. National Academy of Medicine (NAM), the U.S. National Academy of Sciences (NAS), and the Royal Society of the U.K., have joined with science…

On the eve of DNA Day, leaders in the gene therapy community have co-signed a letter to Alex Azar, the Secretary of the Department of Health and Human Services (DHHS), urging a “binding global moratorium” on germline editing. The letter is signed by more than 60 luminaries in the fields…

HONG KONG—The Day After. Two hundred and sixty accredited reporters had dwindled to about a dozen. A conference livestream that peaked at 1.8 million viewers worldwide had dwindled to a much, much smaller figure. And He Jiankui—the researcher at the center of a media and medical firestorm—was back in Shenzhen,…