This manuscript examines how AYAs with advanced cancer experience undergoing complete genomic analysis within standard oncology care. While this approach may refine diagnoses or point to personalised treatment options beyond routine pathways, its immediate clinical impact is often limited. Even so, AYAs value having the opportunity, as it reassures them that all possibilities have been […]
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants (Contributed by Jianjun Li)
Our study looked at more than 11,500 newborns who carry genetic variants associated with deafness. Although genetic testing identified hundreds of infants at high risk for hearing loss, standard newborn hearing screenings failed to detect most of these cases—either because the babies could hear normally at birth or because the hearing loss develops later in […]
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis (Contributed by Professor Mustafa Tekin)
This study explores why some children are born with very small head size (microcephaly) due to rare changes in the CDK4 or CDK6 genes. These genes normally help cells divide and grow. We found that when they do not work properly, cells struggle to multiply and instead become stressed. Rather than simply slowing down, the […]
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population (Contributed by Dr. Kazuki Yamazawa)
Genetic testing for hereditary breast and ovarian cancer often finds DNA changes whose clinical meaning is unclear, leaving patients without clear guidance. In this study, we focused on a BRCA2 gene variant found mainly in Japanese people that has long been classified as a “variant of uncertain significance.” By combining nationwide family data with multiple […]
Colonoscopy Surveillance in Lynch Syndrome: What It Prevents and What It Doesn’t (Contributed by Dr. Richard S Houlston)
This paper re-evaluates how effectively regular colonoscopy protects people with Lynch syndrome, a common inherited cause of bowel cancer. While colonoscopy saves lives by detecting cancers at an early stage, large contemporary studies show it does not reliably prevent cancers from developing. This is because Lynch syndrome cancers can grow rapidly or arise without visible […]
Remembering Dr. Robert Sladek
A few days ago, I learned the sad news that Dr. Robert Sladek had passed away. Although our paths crossed only a few times in life and in academia, he left a deep impression on me. Dr. Robert Sladek was one of those rare individuals whose intellect and scholarly rigor were evident even in a […]
Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes
Tumour predisposition syndromes are typically diagnosed through blood-based genetic testing. However, pathogenic variants arising early in embryonic development may lead to mosaicism that escapes detection in blood. A recent JMG study shows that analysing multiple tissues can uncover these hidden variants and confirm the underlying genetic diagnosis. Multi-tissue analysis can therefore shorten diagnostic odysseys, improve […]
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)
This study identified a novel gene – MGRN1 (mahogunin ring finger 1) – implicated in congenital fetal malformations. A family experienced two pregnancies with fetuses presenting unexplained severe heart and laterality defects. ‘Genomic autopsy’ of affected cases uncovered a rare homozygous defect in MGRN1, regulating early development and left-right patterning. The observed human malformations closely resembled developmental […]
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies (Contributed by Erika Frangione)
Large-scale Canadian genome research studies like HostSeq provide researchers with an opportunity to study genetic variation in the Canadian population. Sharing this data with public databases such as ClinVar is important for advancing our understanding of genetic changes associated with disease risk and susceptibility. However, these databases are often incomplete or contain conflicting information. By […]
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design […]