Etiqueta: #JMedGenet
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Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic sta…
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ACAN-related disorder, antenatal presentation and phenotypic variability: a case series
Background Pathogenic ACAN variants (‘aggrecanopathies’) are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with adva…
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ACAN-related disorder, antenatal presentation and phenotypic variability: a case series
Background Pathogenic ACAN variants (‘aggrecanopathies’) are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with adva…
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Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
Background The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design. Methods Using a 33…
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Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
Background The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design. Methods Using a 33…
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Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the involvement of genetic and non-gene…
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Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the involvement of genetic and non-gene…
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ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer
Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to com…
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ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer
Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to com…
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The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogenic germli…