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Related Concept Videos

Protein Families02:47

Protein Families

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Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Protein Families02:47

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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
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Gene Families01:57

Gene Families

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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION.

M Pelc, E Ciara, A Jezela-Stanek

    Genetic Counseling (Geneva, Switzerland)
    |September 12, 2018
    PubMed
    Summary

    Noonan syndrome (NS) can be caused by RAF1 gene mutations. A rare RAF1 mutation (p.S427G) identified in a familial Noonan syndrome case did not lead to cancer, suggesting germline mutations may not increase tumor risk.

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    Area of Science:

    • Genetics
    • Oncology
    • Molecular Biology

    Background:

    • Ras/MAPK pathway dysregulation causes Noonan syndrome (NS) and human cancers.
    • RAF1 germline mutations are identified in NS, but malignancy incidence remains unreported.
    • Somatic RAF1 mutations are observed in various cancers, including therapy-related acute myeloid leukemia (t-AML).

    Purpose of the Study:

    • To report a familial case of Noonan syndrome with a rare RAF1 germline mutation.
    • To investigate the association between this specific RAF1 germline mutation and cancer development.
    • To provide insights for genetic counseling regarding RAF1 alterations.

    Main Methods:

    • Case report of an adult female patient with Noonan syndrome and her affected mother.
    • Genetic analysis to identify RAF1 germline mutation c.1279A>G (p.S427G).
    • Review of existing literature on RAF1 mutations in NS and cancer.

    Main Results:

    • The familial Noonan syndrome case presented the rare RAF1 germline mutation p.S427G.
    • This mutation, previously reported as somatic in t-AML, was found in a familial NS cohort without malignancy.
    • This is the second reported familial case of Noonan syndrome with this specific RAF1 mutation.

    Conclusions:

    • Carrying a germline RAF1 mutation may not be associated with an increased risk of tumor development.
    • The findings are significant for understanding the role of RAF1 in both germline disorders and somatic cancers.
    • This study contributes to genetic counseling and management strategies for patients with RAF1 alterations.