Germline News and Research

RSS

Genomic study advances prioritization of variants in cancer diagnostics

Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers.

31 Mar 2026

New study maps global immune gene diversity across multiple populations

Inherited variations in antibody genes can affect how we respond to infections and vaccines, show two new studies from Karolinska Institutet in Sweden, published in the journal Immunity.

26 Mar 2026

New guidance aims to standardize tumor mutational burden in cancer

Immune checkpoint inhibitors have transformed cancer care, yet only a minority of patients respond to monotherapy, and immune-related adverse events remain a major concern.

25 Mar 2026

Cancer-fighting antibodies may trigger autoimmune brain disorders

Consider two seemingly unrelated medical puzzles. First: Every day, our bodies produce hundreds of billions of new cells, many of which are mutated.

25 Mar 2026

Online tool helps cancer patients share genetic risk with families

When a person with cancer finds out they carry an inherited genetic variant that puts them at higher risk of cancer, the results can help inform their treatment or steps to prevent additional cancer.

24 Mar 2026

Selfish chromosomes hijack Overdrive gene to eliminate rival sperm

A new University of Utah-led study has discovered the mechanism behind a decades-old evolutionary mystery-how "selfish chromosomes" cheat the rules of genetic inheritance.

13 Mar 2026

Scientists win awards for the discovery of genomic imprinting and tumor’s power grid

For their discovery of genomic imprinting, developmental biologists Davor Solter and Azim Surani will receive the 2026 Paul Ehrlich and Ludwig Darmstaedter Prize, endowed with €120,000, on March 14 at Frankfurt’s Paulskirche.

13 Mar 2026

How somatic mutations shape disease and reveal new drug targets

Researchers reviewed how somatic mutations accumulate in normal and diseased tissues, showing that natural selection can expand clones that influence disease risk, tissue adaptation, or cellular resilience. The study proposes somatic genomics as a powerful strategy to uncover disease mechanisms and identify new therapeutic targets across multiple conditions.

8 Mar 2026

MSK uncovers how interacting mutations shield breast cancer

Researchers at Memorial Sloan Kettering Cancer Center (MSK) have made an important discovery about how genetic mutations in breast cancer patients can interact and drive resistance to certain drugs called CDK4/6 inhibitors. This finding, published in Nature, suggests a new strategy for predicting and preventing resistance to specific therapies based on the tumor's genetic profile.

6 Mar 2026

Trial aims to improve family communication about inherited colorectal cancer risk

In time for Colorectal Cancer Awareness Month in March, the Alliance for Clinical Trials in Oncology has launched a new clinical study aimed at helping improve how patients with colorectal cancer share information about the genetic risks to their family members.

5 Mar 2026

Single prenatal exposure to fungicide linked to disease across 20 generations

A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations - with inherited health problems worsening many generations after exposure.

20 Feb 2026

$8.7 million award supports faster genetic diagnosis of lymphatic diseases

A team of researchers led by Columbia University Vagelos College of Physicians and Surgeons has been awarded an up to two-year $8.7 million contract from the Advanced Research Projects Agency for Health (ARPA-H) to create genetic tests to speed the diagnosis of patients born with defects in the lymphatic system.

19 Feb 2026

Chronic inflammation shapes cancer progression and immunotherapy response

Chronic inflammation is both a driver and suppressor of cancer depending on context. Key players-NF-κB, IL-6, STAT3, TAMs, MDSCs, and Tregs-orchestrate a tumor-permissive microenvironment.

16 Feb 2026

Why lung cancer in never smokers is rising and how targeted detection could reduce deaths

Lung cancer in never smokers is an increasingly recognized global health issue with distinct biological drivers, environmental risk factors, and genetic susceptibilities. Improved risk modelling, targeted screening strategies, and preventive approaches are needed to enable earlier detection and reduce mortality in this growing patient group.

15 Feb 2026

Four-biomarker blood panel enhances the detection of pancreatic ductal adenocarcinoma

A four-biomarker blood panel of aminopeptidase N (ANPEP), polymeric immunoglobulin receptor (PIGR), CA19-9, and thrombospondin-2 (THBS2) enhanced the detection of pancreatic ductal adenocarcinoma (PDAC) compared to measuring CA19-9 levels alone.

28 Jan 2026

Cancer mortality drops 34% as treatments and early detection improve

The 2026 cancer statistics reveal improved survival rates but highlight persistent inequities in cancer incidence and mortality across different populations.

16 Jan 2026

Access barriers keep Black and low-income patients out of genetics clinics

Black patients and patients from socioeconomically disadvantaged neighborhoods are dramatically under-represented in genetics clinics-often at rates half or less than those of White patients or individuals from wealthier areas-according to researchers at the Perelman School of Medicine at the University of Pennsylvania and Massachusetts General Hospital.

19 Dec 2025

Preoperative MRI offers no survival benefit for early-stage breast cancer patients

Patients with stage 1 or 2, hormone receptor (HR)-negative breast cancer had similar five-year rates of locoregional recurrence whether or not they underwent preoperative breast magnetic resonance imaging (MRI) in addition to diagnostic mammography to determine the extent of their cancer, according to results from the phase III Alliance A011104/ACRIN 6694 clinical trial presented at the San Antonio Breast Cancer Symposium (SABCS), held December 9-12, 2025.

11 Dec 2025

Rare inherited variants shape risk and outcomes in pediatric brain and spinal cord tumors

Researchers at Children's Hospital of Philadelphia (CHOP) and Children's National Hospital in Washington D.C. are uncovering how rare inherited genetic variants contribute to the development of brain and spinal cord tumors in children.

26 Nov 2025

Researchers discover new mutation hotspot in the human genome

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we study genetics and disease.

26 Nov 2025