• Disease
  • Colorectal
  • Colorectal Cancer
  • Joanne P Young

    Prominent publications by Joanne P Young

    KOL Index score: 23848

    Colorectal cancer (CRC) that demonstrates microsatellite instability (MSI) is caused by either germline mismatch repair (MMR) gene mutations, or 'sporadic' somatic tumour MLH1 promoter methylation. MLH1 promoter methylation is reportedly correlated with tumour BRAF V600E mutation status. No systematic review has been undertaken to assess the value of BRAF V600E mutation and MLH1 promoter methylation tumour markers as negative predictors of germline MMR mutation status. A literature ...

    Also Ranks for: Mlh1 Methylation |  mutation status |  literature review |  tumour braf |  mismatch repair
    KOL Index score: 20825

    PURPOSE: Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme for identification of patients with germline mismatch repair (MMR) gene mutations.

    PATIENTS AND METHODS: Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation ...

    Also Ranks for: Mlh1 Methylation |  mismatch repair |  endometrial cancer |  60 years |  mmr ihc
    KOL Index score: 17999

    Mucinous differentiation is associated with both CpG island methylator phenotype and microsatellite instability in colorectal cancer. The mucinous phenotype derives from abundant expression of the colonic goblet cell mucin, MUC2, and de novo expression of gastric foveolar mucin, MUC5AC. We, therefore, investigated the protein expression levels of MUC2 and MUC5AC, as well as MUC5B and MUC6, in molecular subtypes of colorectal cancer. Seven-hundred and twenty-two incident colorectal ...

    Also Ranks for: Colorectal Cancers |  muc2 muc5ac |  methylator phenotype |  cpg island |  microsatellite instability
    KOL Index score: 17992

    High-level microsatellite instability (MSI-H) is demonstrated in 10 to 15% of sporadic colorectal cancers and in most cancers presenting in the inherited condition hereditary nonpolyposis colorectal cancer (HNPCC). Distinction between these categories of MSI-H cancer is of clinical importance and the aim of this study was to assess clinical, pathological, and molecular features that might be discriminatory. One hundred and twelve MSI-H colorectal cancers from families fulfilling the ...

    Also Ranks for: Colorectal Cancers |  hnpcc tumors |  sporadic msi |  1 muts |  human pair
    KOL Index score: 17425

    BACKGROUND: Lynch syndrome is a highly penetrant cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes. We estimated the risks of primary cancers other than colorectal cancer following a diagnosis of colorectal cancer in mutation carriers.

    METHODS: We obtained data from the Colon Cancer Family Registry for 764 carriers of an MMR gene mutation (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had a previous diagnosis of colorectal cancer. The ...

    Also Ranks for: Colorectal Cancer |  1 muts |  mutation carriers |  dna repair |  small intestine
    KOL Index score: 16921

    PURPOSE: To determine whether cancer risks for carriers and noncarriers from families with a mismatch repair (MMR) gene mutation are increased above the risks of the general population.

    PATIENTS AND METHODS: We prospectively followed a cohort of 446 unaffected carriers of an MMR gene mutation (MLH1, n = 161; MSH2, n = 222; MSH6, n = 47; and PMS2, n = 16) and 1,029 their unaffected relatives who did not carry a mutation every 5 years at recruitment centers of the Colon Cancer Family ...

    Also Ranks for: Cancer Risk |  mismatch repair |  gene mutation |  prospective cohort study |  disease heterozygote humans
    KOL Index score: 16684

    BACKGROUND: Lynch syndrome is an autosomal dominantly inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Previous studies have shown that MMR gene mutation carriers are at increased risk of colorectal, endometrial, and several other cancers following an initial diagnosis of colorectal cancer. We estimated cancer risks following an endometrial cancer diagnosis for women carrying MMR gene mutations.

    METHODS: We obtained data from the Colon Cancer Family ...

    Also Ranks for: Endometrial Cancer |  lynch syndrome |  95 women |  colorectal neoplasms |  1 muts
    KOL Index score: 16128

    BACKGROUND: Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain.

    METHODS: We identified 113 families of MSH6 mutation carriers from five countries that we ascertained through family cancer clinics and population-based cancer registries. Mutation status, sex, age, and histories of cancer, polypectomy, and ...

    Also Ranks for: Mutation Carriers |  lynch syndrome |  cancer risks |  95 women |  colorectal neoplasms
    KOL Index score: 16095

    BACKGROUND: Surgical management of colon cancer for patients with Lynch syndrome who carry a mismatch repair (MMR) gene mutation is controversial. The decision to remove more or less of the colon involves the consideration of a relatively high risk of metachronous colorectal cancer (CRC) with the impact of more extensive surgery.

    OBJECTIVE: To estimate and compare the risks of metachronous CRC for patients with Lynch syndrome undergoing either segmental or extensive (subtotal or total) ...

    Also Ranks for: Metachronous Crc |  mismatch repair |  cancer risk |  colon surgery |  gene mutation
    KOL Index score: 15654

    PURPOSE: Most colorectal cancers that have high levels of microsatellite instability (MSI-H) show loss of immunohistochemical expression of proteins that participate in the DNA mismatch repair process, most often involving MLH1 and MSH2. Less commonly, a third DNA mismatch repair protein, MSH6, may also be lost as the primary event. Rarely, tumors with MSI-H show normal expression of these three proteins. The genetic deficiency leading to the MSI-H phenotype in such cases is unknown. ...

    Also Ranks for: Colorectal Cancers |  expression pms2 |  isolated loss |  msh2 msh6 |  repair proteins
    KOL Index score: 15618

    BACKGROUND AND AIMS: Mutations in BRAF have been linked with colorectal cancers (CRC) showing high level microsatellite instability (MSI-H). However, the distribution of BRAF mutations in MSI-H cancers remains to be clarified with respect to precursor lesions and the CpG island methylator phenotype (CIMP).

    METHODS: Forty three hyperplastic polyps (HP), nine mixed polyps (MP), five serrated adenomas (SA), 28 conventional adenomas (AD), 18 hereditary non-polyposis colorectal cancers ...

    Also Ranks for: Braf Mutation |  dna methylation |  serrated polyps |  colorectal cancers |  hyperplastic polyposis
    KOL Index score: 15598

    PURPOSE: The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis.

    METHODS: We studied 131 unselected patients with colorectal cancer diagnosed younger than age 45 years. For the 105 available tumors, MLH1, MSH2, MSH6, and PMS2 protein expression using immunohistochemistry (IHC) and MSI were measured. Germline DNA was screened for hMLH1, hMSH2, ...

    Also Ranks for: Amsterdam Criteria |  mismatch repair |  onset colorectal |  mmr proteins |  msi testing
    KOL Index score: 15450

    Debate continues as to the usefulness of assessing adenomas for loss of mismatch repair protein expression to identify individuals with suspected Lynch syndrome. We tested 109 polyps from 69 proven mutation carriers (35 females and 34 males) belonging to 49 Lynch syndrome families. All polyps were tested by immunohistochemistry for four mismatch repair proteins MLH1, MSH2, MSH6 and PMS2. Detailed pathology review was performed by specialist gastrointestinal pathologists. The majority of ...

    Also Ranks for: Mismatch Repair |  conventional adenomas |  mutation carriers |  lynch syndrome |  loss expression
    KOL Index score: 15438

    KRAS-mutated carcinomas comprise 35–40% of all colorectal carcinomas but little is known about their characteristics. The aim of this study was to examine the pathological and molecular features of KRAS-mutated colorectal carcinomas and to compare them with other carcinoma subgroups. KRAS mutation testing was performed in 776 incident tumors from the Melbourne Collaborative Cohort Study. O6-methylguanine DNA methyltransferase (MGMT) status was assessed using both immunohistochemistry and ...

    Also Ranks for: Kras Mutation |  colorectal carcinomas |  oncogene proteins |  molecular features |  mgmt methylation
    KOL Index score: 15330

    BACKGROUND & AIMS: Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical ...

    Also Ranks for: Pms2 Mutations |  lynch syndrome |  clinical phenotype |  mutation carriers |  colorectal cancer


    Joanne P Young: Influence Statistics

    Sample of concepts for which Joanne P Young is among the top experts in the world.
    Concept World rank
    tumor biologybased approach #1
    crc report #1
    sayo #1
    loh south african #1
    families tumour #1
    colorectal cancers cimp #1
    heterozygosity protein p53 #1
    rate metachronous cancer #1
    expression methylator #1
    allelic young adults #1
    hps dnmt1 #1
    young‐onset colorectal cancer #1
    apoptosis inducing combinations #1
    bac ic50 #1
    cimp 95 #1
    colonoscopic surveillance cancers #1
    sw620 hct116 #1
    108 carcinomas #1
    braf msi #1
    neoplastic humans aquaporin #1
    normal mucosa analysis #1
    methylation polyps #1
    2 remaining polyps #1
    crc precursor lesions #1
    metachronous cancer cancers #1
    colorectum cigarette #1
    cases colorectal cancers #1
    tested msi #1
    candidate colorectal #1
    phenotypic presentations #1
    cancers showing #1
    kras mutations role #1
    rnf43 pathogenic #1
    incidental endoscopy findings #1
    molecular features survival #1
    alpi induction #1
    induction alpi #1
    predisposition serrated #1
    polyposis colonic #1
    twentythree primary hccs #1
    dnmt1 hps #1
    variant rnf43 1ga #1
    hereditary role #1
    methylation msi #1
    29 tumors endometriosis #1
    south african loh #1
    serrated polyposis problem #1
    wellcharacterized condition #1
    report foundations #1
    methylation hpp1 #1

    Key People For Colorectal Cancer

    Top KOLs in the world
    Ahmedin M Jemal
    united states breast cancer addis ababa
    Rebecca L Siegel
    united states colorectal cancer incidence rates
    Freddie Ian Bray
    cancer incidence nordic countries mortality rates
    Jacques Ferlay
    cancer incidence global burden latin america
    Charles Stewart Fuchs
    colorectal cancer physical activity microsatellite instability
    Bert Vogelstein
    colorectal cancer somatic mutations tumor dna

    Joanne P Young:Expert Impact

    Concepts for whichJoanne P Younghas direct influence:Colorectal cancer,  Lynch syndrome,  Microsatellite instability,  Colorectal cancers,  Mismatch repair,  Endometrial cancer,  Braf mutation,  Dna methylation.

    Joanne P Young:KOL impact

    Concepts related to the work of other authors for whichfor which Joanne P Young has influence:Colorectal cancer,  Lynch syndrome,  Microsatellite instability,  Dna methylation,  Mismatch repair,  Serrated polyps,  Gene expression.



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    Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia | SAHMRI Colorectal Node, Basil Hetzel Institute, Woodville South, SA 5011, Australia | Department of Haematology and Oncology, The Queen Elizabeth Hospital,