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  1. Article ; Online: Peter S. Harper: obituary.

    Clarke, Angus J / Sampson, Julian R

    Human genetics

    2021  Volume 140, Issue 7, Page(s) 981–983

    Language English
    Publishing date 2021-03-17
    Publishing country Germany
    Document type Editorial
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-021-02275-2
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    Zs.A 256: Show issues Location:
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  2. Article ; Online: Response to Chambuso et al.

    Dominguez-Valentin, Mev / Sampson, Julian R / Seppälä, Toni T / Møller, Pål

    Genetics in medicine : official journal of the American College of Medical Genetics

    2022  Volume 24, Issue 5, Page(s) 1151

    Language English
    Publishing date 2022-02-23
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2022.01.005
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    Zs.A 5059: Show issues Location:
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  3. Article ; Online: Pan-Cancer Interrogation of

    Paller, Channing J / Tukachinsky, Hanna / Maertens, Alexandra / Decker, Brennan / Sampson, Julian R / Cheadle, Jeremy P / Antonarakis, Emmanuel S

    JCO precision oncology

    2024  Volume 8, Page(s) e2300251

    Abstract: Purpose: Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene : Materials and methods: Data from 354,366 solid tumor biopsies that were sequenced as part of routine clinical care were analyzed using a validated ... ...

    Abstract Purpose: Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene
    Materials and methods: Data from 354,366 solid tumor biopsies that were sequenced as part of routine clinical care were analyzed using a validated algorithm to distinguish germline from somatic
    Results: Biallelic germline pathogenic
    Conclusion: This analysis of
    MeSH term(s) Humans ; Excision Repair ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Mutation/genetics ; Neoplasms/epidemiology ; Neoplasms/genetics ; DNA Glycosylases/genetics
    Chemical Substances mutY adenine glycosylase (EC 3.2.2.-) ; DNA Glycosylases (EC 3.2.2.-)
    Language English
    Publishing date 2024-02-23
    Publishing country United States
    Document type Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.23.00251
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  4. Article ; Online: Towards evidence-based personalised precision medicine for Lynch syndrome.

    Møller, Pål / Sampson, Julian R / Dominguez-Valentin, Mev / Seppälä, Toni T

    The Lancet. Oncology

    2021  Volume 22, Issue 9, Page(s) e383

    MeSH term(s) Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/therapy ; Evidence-Based Medicine ; Humans ; Precision Medicine
    Language English
    Publishing date 2021-09-06
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 2049730-1
    ISSN 1474-5488 ; 1470-2045
    ISSN (online) 1474-5488
    ISSN 1470-2045
    DOI 10.1016/S1470-2045(21)00400-9
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    Zs.A 5696: Show issues Location:
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    Zs.MO 460: Show issues

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  5. Article ; Online: Genomics, individuals and public health: a view from clinical genetics: comment on Dr R.L. Zimmern's Genomics and individuals in public health practice: are we luddites or can we meet the challenge?

    Sampson, Julian R

    Journal of public health (Oxford, England)

    2011  Volume 33, Issue 4, Page(s) 485–486

    MeSH term(s) Genomics ; Humans ; Precision Medicine ; Public Health Practice
    Language English
    Publishing date 2011-12
    Publishing country England
    Document type Comment ; Journal Article
    ZDB-ID 2142082-8
    ISSN 1741-3850 ; 1741-3842
    ISSN (online) 1741-3850
    ISSN 1741-3842
    DOI 10.1093/pubmed/fdr083
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  6. Article ; Online: Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD).

    Seppälä, Toni T / Dominguez-Valentin, Mev / Sampson, Julian R / Møller, Pål

    Familial cancer

    2020  Volume 20, Issue 1, Page(s) 35–39

    Abstract: The Prospective Lynch Syndrome Database (PLSD) has been developed as an international, multicentre, prospective, observational study that aims to provide age and organ-specific cancer risks according to gene and gender, estimates of survival after cancer ...

    Abstract The Prospective Lynch Syndrome Database (PLSD) has been developed as an international, multicentre, prospective, observational study that aims to provide age and organ-specific cancer risks according to gene and gender, estimates of survival after cancer and information on the effects of interventions. Recent reports from PLSD provided improved estimates of cancer risks and survival and showed that different time intervals between surveillance colonoscopies did not affect the incidence, stage or prognosis of colorectal cancer. The PLSD reports suggest that current management guidelines for Lynch syndrome should be revised in light of the different gene and gender-specific cancer risks and the good prognosis for the most commonly associated cancers.In this review, we describe the discrepancies between the current management guidelines for Lynch Syndrome and the most recent prospective observational studies, indicating the areas of further research.
    MeSH term(s) Biomedical Research ; Colonoscopy ; Colorectal Neoplasms/mortality ; Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/mortality ; Colorectal Neoplasms, Hereditary Nonpolyposis/therapy ; DNA Mismatch Repair/genetics ; Databases, Factual ; Europe ; Female ; Humans ; Incidence ; Male ; Multicenter Studies as Topic ; Observational Studies as Topic ; Pancreatic Neoplasms/prevention & control ; Practice Guidelines as Topic ; Prospective Studies ; Sex Factors ; Stomach Neoplasms/diagnosis ; Time Factors ; Urologic Neoplasms/diagnosis ; Urologic Neoplasms/therapy
    Language English
    Publishing date 2020-06-08
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-020-00193-2
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    Zs.A 6099: Show issues Location:
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  7. Article ; Online: Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum.

    Dominguez-Valentin, Mev / Sampson, Julian R / Møller, Pål / Seppälä, Toni T

    International journal of cancer

    2020  Volume 148, Issue 2, Page(s) 512–513

    MeSH term(s) Adult ; Aged ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; Databases, Factual ; Female ; Humans ; Male ; Middle Aged ; Sarcoma/diagnosis ; Sarcoma/pathology ; Syndrome
    Language English
    Publishing date 2020-07-30
    Publishing country United States
    Document type Letter
    ZDB-ID 218257-9
    ISSN 1097-0215 ; 0020-7136
    ISSN (online) 1097-0215
    ISSN 0020-7136
    DOI 10.1002/ijc.33214
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    Zs.A 478: Show issues Location:
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    Zs.MO 576: Show issues

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  8. Article ; Online: Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments.

    Saxena, Anurag / Sampson, Julian R

    Seminars in neurology

    2015  Volume 35, Issue 3, Page(s) 269–276

    Abstract: Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic disorder. Although seizures can occur for the first time at any age, onset in infancy or childhood is usual. Around 30% of patients present with infantile spasms that ... ...

    Abstract Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic disorder. Although seizures can occur for the first time at any age, onset in infancy or childhood is usual. Around 30% of patients present with infantile spasms that often respond well to treatment with vigabatrin. Later seizures may occur as specific patterns, such as in Lennox-Gastaut syndrome, or with combinations of seizures including focal and multifocal seizures, and drop attacks. Most patients have two or more seizure types. Seizure control using current antiepileptic drugs is often unsatisfactory, leading to frequent polypharmacy. Epilepsy surgery has a place in the management of some patients. Mutations in the TSC1 and TSC2 genes that cause tuberous sclerosis lead to hyperactivation of signaling via the mammalian target of rapamycin complex 1 (mTORC1). Inhibitors of mTORC1 have recently been shown to be effective treatments for some manifestations of tuberous sclerosis; they are now being assessed as potential novel antiepileptic drugs in tuberous sclerosis and related disorders.
    MeSH term(s) Anticonvulsants/therapeutic use ; Calcium-Binding Proteins/genetics ; Epilepsy/epidemiology ; Epilepsy/etiology ; Epilepsy/genetics ; Epilepsy/therapy ; Humans ; Mutation/genetics ; Neurosurgical Procedures/methods ; TOR Serine-Threonine Kinases/genetics ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/epidemiology ; Tuberous Sclerosis/genetics
    Chemical Substances Anticonvulsants ; Calcium-Binding Proteins ; TSC protein, human ; TOR Serine-Threonine Kinases (EC 2.7.1.1)
    Language English
    Publishing date 2015-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 603165-1
    ISSN 1098-9021 ; 0271-8235
    ISSN (online) 1098-9021
    ISSN 0271-8235
    DOI 10.1055/s-0035-1552616
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    Zs.A 1737: Show issues Location:
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  9. Article ; Online: Therapeutic targeting of mTOR in tuberous sclerosis.

    Sampson, Julian R

    Biochemical Society transactions

    2009  Volume 37, Issue Pt 1, Page(s) 259–264

    Abstract: Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis). Both diseases are caused by mutations ... ...

    Abstract Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis). Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, leading to inappropriate activity of signalling downstream of mTORC1 (mTOR complex 1). mTOR inhibitors are already used in a variety of clinical settings including as immunosuppressants, anticancer agents and antiproliferative agents in drug-eluting coronary artery stents. They also represent candidate therapies directed to the underlying molecular pathology in tuberous sclerosis and LAM. Phase I/II clinical trials of the mTORC1 inhibitor rapamycin have demonstrated reduction in size of tuberous-sclerosis- and LAM-associated renal tumours (angiomyolipomas) and some evidence for reversible improvement in lung function in patients with LAM. A case series of tuberous-sclerosis-associated brain tumours were also reported to shrink during rapamycin therapy. An important, although variable, feature of the tuberous sclerosis phenotype is learning difficulty. Recent studies in mouse models carrying heterozygous Tsc2 mutations demonstrated improvement in memory and learning deficits following treatment with rapamycin. These promising pre-clinical and early human trials are being followed by larger-scale randomized control trials of mTOR inhibitors for treatment of renal, lung and brain manifestations of TSC1- and TSC2-associated disease.
    MeSH term(s) Animals ; Brain/pathology ; Clinical Trials as Topic ; Humans ; Lymphangioleiomyomatosis/complications ; Protein Kinase Inhibitors/therapeutic use ; Protein Kinases/metabolism ; TOR Serine-Threonine Kinases ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/drug therapy ; Tuberous Sclerosis/enzymology ; Tuberous Sclerosis/genetics
    Chemical Substances Protein Kinase Inhibitors ; Protein Kinases (EC 2.7.-) ; MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.1.1) ; mTOR protein, mouse (EC 2.7.1.1)
    Language English
    Publishing date 2009-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 184237-7
    ISSN 1470-8752 ; 0300-5127
    ISSN (online) 1470-8752
    ISSN 0300-5127
    DOI 10.1042/BST0370259
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  10. Article ; Online: Response to Tolva et al.

    Sampson, Julian R / Dominguez-Valentin, Mev / Seppälä, Toni T / Møller, Pål

    Genetics in medicine : official journal of the American College of Medical Genetics

    2019  Volume 22, Issue 4, Page(s) 813–814

    MeSH term(s) Colorectal Neoplasms, Hereditary Nonpolyposis ; DNA Mismatch Repair ; Data Management ; Heterozygote ; Humans ; Prospective Studies
    Language English
    Publishing date 2019-12-05
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-019-0717-5
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