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  • Breast MRI for Women With Hereditary Cancer Risk

    Abstract Full Text
    JAMA. 2004; 292(11):1368-1370. doi: 10.1001/jama.292.11.1368
  • Miscellanea Medica

    Abstract Full Text
    JAMA. 1999; 281(9):785-785. doi: 10.1001/jama.281.9.785-JMN0303-5-1
  • JAMA September 22, 2004

    Figure: Hypothetical Pedigree for a Consultand With a Family History Suggestive of a Hereditary Nonpolyposis Colon Cancer

    A consultand is an individual under evaluation for predicting his/her own future risk, or the risk of his/her offspring. The arrow identifies the consultand. The letter d. followed by a number (eg, d. 53) indicates the age the individual died and the 2-letter abbreviation with number (eg, Co 53) represents the diagnosis an individual received followed by the age at the time of diagnosis. This pedigree meets Amsterdam II criteria, which includes (1) 3 relatives with a hereditary nonpolyposis colorectal cancer–associated tumor, such as colon cancer, endometrial cancer, ureteral cancer, cancer of the renal pelvis, ovarian cancer, stomach cancer, or small bowel cancer; (2) one relative must be a first-degree relative of the other 2; (3) cancers affect at least 2 generations; and (4) 1 or more cases diagnosed before age 50 years.
  • Identification of Lynch Syndrome Among Patients With Colorectal Cancer

    Abstract Full Text
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    JAMA. 2012; 308(15):1555-1565. doi: 10.1001/jama.2012.13088
    Moreira and coauthors investigate strategies for identifying Lynch syndrome in patients with colorectal cancer. They examine data from 4 large cohorts to consider criteria for which individuals should undergo tumor mismatch repair gene testing. In an Editorial, Ladabaum and Ford discuss screening for Lynch syndrome.
  • Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer

    Abstract Full Text
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    JAMA. 2005; 293(16):1986-1994. doi: 10.1001/jama.293.16.1986
  • Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome: A Systematic Review

    Abstract Full Text
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    JAMA. 2006; 296(12):1507-1517. doi: 10.1001/jama.296.12.1507
  • Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

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    JAMA. 2016; 315(1):68-76. doi: 10.1001/jama.2015.17703

    This study estimates familial risk and heritability of cancer types in a large twin cohort using data from population-based registers in Denmark, Finland, Norway, and Sweden.

  • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

    Abstract Full Text
    JAMA. 2017; 318(9):825-835. doi: 10.1001/jama.2017.11137

    This case series of patients with advanced cancer evaluates the proportion and potential clinical implications of inherited variants detected using DNA sequencing of tumor and normal tissue compared with genetic test results based on current guidelines.

  • Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome

    Abstract Full Text
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    JAMA. 2006; 296(12):1479-1487. doi: 10.1001/jama.296.12.1479
  • Lower Cancer Incidence in Amsterdam-I Criteria Families Without Mismatch Repair Deficiency: Familial Colorectal Cancer Type X

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    JAMA. 2005; 293(16):1979-1985. doi: 10.1001/jama.293.16.1979
  • JAMA April 25, 2017

    Figure 2: Time to Colonoscopy After a Positive FIT and Adjusted Riska of Advanced Adenoma, Any Colorectal Cancer, and Advanced-Stage Colorectal Cancer

    BMI indicates body mass index (calculated as weight in kilograms divided by height in meters squared); FIT, fecal immunochemical test; OR, odds ratio. Models for any colorectal cancer include the entire population. Advanced adenoma was defined as adenomas with advanced histology (ie, tubulovillous and villous adenomas). Models for advanced adenoma exclude 2191 patients diagnosed with colorectal cancer. Advanced-stage cancers were defined as stage III (regional lymph node involvement) or stage IV (distant metastasis) according to the American Joint Committee on Cancer staging system or, for those without such staging, as code 3 (disease in the regional lymph nodes), code 4 (regional disease with direct extension and spread to the regional lymph nodes), or code 7 (distant metastasis) according to the 2013 Surveillance, Epidemiology, and End Results Program Coding and Staging Manual. Models for advanced-stage colorectal cancer exclude 14 patients with colorectal cancer of unknown stage. The adjusted advanced-stage colorectal cancer model dropped 244 patients with unknown BMI because no patient with unknown BMI had this outcome. aAdjusted for sex; age; race/ethnicity; BMI; region; FIT screening year; completion of previous FIT screening (ever and in the prior year); and in the year prior to FIT screening, receipt of the flu or pneumonia vaccine, presence of gastrointestinal symptoms (bleeding or blood in stool, unexplained weight loss, abdominal pain, diarrhea, diverticulitis, inflammatory bowel disease, or Lynch syndrome), diagnosis of iron-deficiency anemia or diabetes, current smoker, number of primary care visits, and number of days hospitalized.bRates (95% CIs) were per 1000 patients who had a colonoscopy after a positive FIT.
  • Botulism and Sudden Infant Death Syndrome

    Abstract Full Text
    JAMA. 1977; 238(15):1629-1629. doi: 10.1001/jama.1977.03280160023008
  • JAMA December 13, 2016

    Figure 1: Flow of Patients Through the GLAGOV Randomized Clinical Trial

    aPatients could be excluded for more than 1 reason; therefore, the sum of the criteria may be greater than the number of patients. CETP indicates cholesterylester transfer protein; GLAGOV, Global Assessment of Plaque Regression With a PCSK9 Antibody as Measured by Intravascular Ultrasound; IVUS, intravascular ultrasonography; LDL-C, low-density lipoprotein cholesterol.bLDL-C level 80 mg/dL (2.07 mmol/L) or greater, with or without risk factors; less than 60 mg/dL (1.55 mmol/L); or 60 mg/dL or greater to less than 80 mg/dL.cClinically significant heart disease (154), hyperthyroidism or hypothyroidism (38), type 1 diabetes (27), history of malignancy (16), fasting triglyceride level greater than 400 mg/dL (4.52 mmol/L) (15), active liver disease or hepatic dysfunction (11), uncontrolled cardiac arrhythmia (4), creatine kinase level greater than 3 times upper limit of normal (2), history of hereditary muscular disorders (2), known active infection or systemic dysfunctions (2), New York Heart Association III or IV heart failure or left ventricular ejection fraction less than 30% (2), severe renal dysfunction (1), uncontrolled hypertension (1).
  • The Cancer Syndrome

    Abstract Full Text
    JAMA. 1974; 229(12):1651-1652. doi: 10.1001/jama.1974.03230500067038
  • Cancer Risks Associated With Germline Mutations in MLH1 , MSH2 , and MSH6 Genes in Lynch Syndrome

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    JAMA. 2011; 305(22):2304-2310. doi: 10.1001/jama.2011.743
  • JAMA September 27, 2006

    Figure: Suggested Algorithm for Laboratory Testing for Lynch Syndrome*

    Developed for use in colorectal cancer because the other Lynch-related tumors have not been studied in this way. HNPCC indicates hereditary nonpolyposis colorectal cancer. *If tumor testing is not feasible and suspicion of Lynch syndrome is strong, proceeding directly to gene testing is an option. †Individual meets 1 or more of the Bethesda Guidelines (see Box 2). If a patient meets the Amsterdam Criteria, one may proceed directly to germline testing for mismatch repair genes. Most centers will not perform microsatellite instability testing in these cases.
  • Screening for Colorectal Cancer and Evolving Issues for Physicians and Patients: A Review

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    JAMA. 2016; 316(20):2135-2145. doi: 10.1001/jama.2016.17418

    This narrative review summarizes the most commonly used colorectal cancer screening tests in the United States and offers guidance about screening programs for higher-risk patients and management of antithrombotic therapy before colonoscopy.

  • JAMA April 27, 2005

    Figure 2: Categories of Colorectal Cancer Syndromes

    Schematic showing the 2 categories of colorectal cancer syndromes, illustrating that nonpolyposis disorders are heterogeneous but based on tumor biology can be distinguished as those having defective mismatch repair (Lynch syndrome; group A) and those with proficient mismatch repair (group B in this study, called here familial colorectal cancer type X). Diagram excludes syndromes characterized by hamartomatous/hyperplastic polyposis.*Defined by any number of pedigree and/or laboratory criteria, including but not limited to the Amsterdam criteria. Hereditary nonpolyposis colon cancer syndrome is the term that has traditionally been used in this context, encompassing those entities that have emerged as distinguishable clinical entities (ie, Lynch syndrome and familial colorectal cancer type X).
  • Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial

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    JAMA. 2016; 315(12):1266-1275. doi: 10.1001/jama.2016.2522

    This randomized clinical trial compares the effect of sulindac and erlotinib vs placebo on duodenal adenoma regression among people with familial adenomatous polyposis.