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Multiomics in cancer biomarker discovery and cancer subtyping.

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School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, Republic of Korea; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea. Electronic address:

The advent of multiomics has ushered in a new era of cancer research characterized by integrated genomic, transcriptomic and proteomic analysis to unravel the complexities of cancer biology and facilitate the discovery of novel biomarkers. This chapter provides a comprehensive overview of the concept of multiomics, detailing the significant advances in the underlying technologies and their contributions to our understanding of cancer. It delves into the evolution of genomics and transcriptomics, breakthroughs in proteomics, and overarching progress in multiomic methodologies, highlighting their collective impact on cancer biomarker discovery.

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Background: Despite increasing awareness in general practice, heart failure with preserved ejection fraction (HFpEF) remains under-diagnosed in the community due to diagnostic difficulties. Dedicated dyspnea clinics are responsible for diagnosing HFpEF and efficient referral from primary care physicians is the key to enhance its role.

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Persistent primary hyperparathyroidism is defined as the persistence or recurrence of hypercalcemia within 6 months of parathyroid surgery. Recurrent primary hyperparathyroidism is defined as the recurrence of primary hyperparathyroidism more than 6 months after an initially curative parathyroidectomy. In these situations, it is essential to rule out differential diagnoses, and in particular secondary hyperparathyroidism and familial hypocalciuric hypercalcemia.

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Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.

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Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.

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Parathyroid carcinoma is extremely rare, affecting 1% of cases of primary hyperparathyroidism. For this reason, management is poorly codified and requires expertise in specialized center. PC is genetically determined in a quarter to a third of cases, notably involving the CDC73 gene coding for parafibromin.

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