Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and twenties

Down-sloping sensorineural hearing loss is an easy-to-overlook issue for its significance. However, it can hamper efficient communication and in-depth social interaction, and learning ability is severely damaged especially in people in their teens and twenties. Even people with the disease usually don’t seek for medical advice or supportive devices because converstion might be possible in […]

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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders profoundly impacting on child neurodevelopment. Genotype-phenotype associations are still limited, with negative consequences on prognosis and counselling. Here, we provide a comprehensive and systematic phenotypic assessment of 56 PCH patients with different genetic etiology. We identified three major PCH genes and investigated their association with […]

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Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population

Our study identified a novel functional variant rs3094187 associated with SCCHN risk, which could modify TCF19 expression by regulating the binding affinity of the transcription factor SREBF1. Further functional investigations demonstrated that TCF19 was overexpressed in SCCHN and the inhibition of TCF19 might attenuate the proliferation and migration of SCCHN cell lines, as well as […]

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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Constitutional Mismatch Repair Deficiency Syndrome or CMMRD is a rare, hereditary cancer condition impacting mainly children and young adults. CMMRD individuals get malignant cancers of all types but most commonly brain, intestines (colon) and blood cancers.  In the past, most of these patients used to die before adulthood, however, nowadays it is very important to […]

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Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn “on” (expressed) or “off” resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted […]

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Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study

Early removal of tubes followed by later removal of ovaries, offers high-risk women a new two-step option of reducing their ovarian cancer risk, whilst avoiding early menopause. Results from a study in high-risk women undergoing surgical prevention in the UK PROTECTOR trial suggests women more concerned about detrimental impact of menopause chose this new two-step […]

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Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

This is an original research article on uptake, timing and efficacy of bilateral risk reducing surgery (RRM and RRSO) in 887  female BRCA1/BRCA2 carriers unaffected by cancer at testing. This is one of the largest prospective cohorts, covering both surgeries, published to date. More than 50% of women in the study underwent RRM and more […]

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Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel

Our findings provide novel insight into the genetic screening of CRC patients in the era of multi-gene panel. Universal germline testing for cancer susceptibility genes should be recommend among all CRC patients diagnosed under age 70 years. It could discover substantially more individuals with hereditary cancer syndromes who would benefit from enhanced surveillance and tailored […]

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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Variant identification can be challenging for many clinically-relevant genes where highly similar DNA sequences are present elsewhere in the genome. In this study we focused on a recurrent TUBB2A variant (p.A248V) previously described to cause a neurodevelopmental disorder. Due to conflicting assessments in ClinVar and a surprisingly high frequency in some population databases, interpretation of […]

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