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   Articles with "prevalence pathogenic" as a keyword



Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers.

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recommendations! Published in 2023 at "Cancer medicine"

DOI: 10.1002/cam4.5835

Abstract: Second malignant neoplasms (SMNs) are one of the most severe late complications after pediatric cancer treatment. However, the effect of genetic variation on SMNs remains unclear. In this study, we revealed germline genetic factors that… read more here.

Keywords: pathogenic variants; prevalence pathogenic; variants cancer; cancer predisposing ... See more keywords

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

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recommendations! Published in 2018 at "Genome Medicine"

DOI: 10.1186/s13073-018-0607-5

Abstract: BackgroundPrior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP… read more here.

Keywords: cancer genes; prevalence; pathogenic likely; cohort ... See more keywords

Prevalence of pathogenic mismatch repair mutations in an Irish cohort after clinical and molecular pre-selection.

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recommendations! Published in 2017 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2017.35.4_suppl.574

Abstract: 574Background: Lynch syndrome (LS) is a highly penetrant, autosomal dominant multi-system disorder characterised by an inherited predisposition to a range of cancers. LS is caused by germline mutations in one of the mismatch repair (MMR)… read more here.

Keywords: molecular pre; pre selection; prevalence pathogenic; irish cohort ... See more keywords

SUN-155 The Prevalence of Pathogenic Variants in Medically Actionable Genes Among Women with Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

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recommendations! Published in 2025 at "Journal of the Endocrine Society"

DOI: 10.1210/jendso/bvaf149.2087

Abstract: Abstract Disclosure: J.M. Kwal: None. L.P. Chorich: None. Z. Hawkins: None. L. Grater: None. J. Knight: None. H.S. Taylor: None. L.C. Layman: None. Background: Idiopathic Hypogonadotropic Hypogonadism (IHH) is an endocrine disorder characterized by impaired… read more here.

Keywords: hypogonadotropic hypogonadism; none; kallmann syndrome; prevalence pathogenic ... See more keywords

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals

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recommendations! Published in 2025 at "Genes"

DOI: 10.3390/genes16101228

Abstract: Background: Cardiovascular diseases remain a leading cause of death worldwide, yet the prevalence of pathogenic and likely pathogenic genetic variants associated with them is still underassessed in some populations. This study aimed to assess the… read more here.

Keywords: likely pathogenic; pathogenic likely; prevalence pathogenic; variants associated ... See more keywords