Primer on medical genomics. Part XII: Pharmacogenomics--general principles with cancer as a model.

Abstract:

:The Human Genome Project has resulted in a new era in the field of pharmacogenetics in which researchers are rapidly discovering new genetic variation, which may help to explain interindividual variability in drug efficacy and toxicity. Pharmacogenetics is the study of the role of genetic inheritance in individual variation in drug response and toxicity. With the convergence of advances in pharmacogenetics and human genomics, the field of pharmacogenomics has emerged during the past decade. Pharmacogenomics is used to refer to the study of the relationship between specific DNA-sequence variation and drug effect. In few other disciplines of medicine are the clinical examples of pharmacogenetics more striking than in oncology. In this field, treatment of patients with cancer is accomplished primarily through the use of chemotherapeutic drugs that have narrow therapeutic indexes, ie, the difference between the toxic and therapeutic dose is relatively small. In this review, we discuss several selected, clinically relevant examples of ways in which sequence variation in genes that encode drug enzymes, transporters, and drug targets can alter the efficacy and/or adverse-effect profile of "standard" doses of chemotherapeutic drugs. Additionally, we discuss some of the ways in which physicians are currently applying this knowledge in the treatment of patients with cancer.

journal_name

Mayo Clin Proc

journal_title

Mayo Clinic proceedings

authors

Goetz MP,Ames MM,Weinshilboum RM

doi

10.4065/79.3.376

keywords:

subject

Has Abstract

pub_date

2004-03-01 00:00:00

pages

376-84

issue

3

eissn

0025-6196

issn

1942-5546

pii

S0025-6196(11)62870-X

journal_volume

79

pub_type

杂志文章,评审
  • Potassium Binders for Hyperkalemia in Chronic Kidney Disease-Diet, Renin-Angiotensin-Aldosterone System Inhibitor Therapy, and Hemodialysis.

    abstract::Hyperkalemia is a potentially life-threatening complication of chronic kidney disease (CKD). The management of CKD requires balancing the benefits of specific treatments, which may exacerbate the potential for hyperkalemia, with the risks of hyperkalemia itself. Renin-angiotensin-aldosterone system (RAAS) inhibitors, ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/j.mayocp.2019.05.019

    authors: Palmer BF

    更新日期:2020-02-01 00:00:00

  • Hypoglycemia: fact or fiction?

    abstract::Many misconceptions continue to persist in both the lay and the professional literature regarding the proper approach to the diagnosis and treatment of hypoglycemia. Often, patients with a symptom complex suggestive of hypoglycemia have normal levels of plasma glucose in association with these symptoms. The major diag...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/s0025-6196(12)64790-9

    authors: Nelson RL

    更新日期:1985-12-01 00:00:00

  • Herpes zoster reactivation of phantom limb pain.

    abstract::A case is reported in which a herpes zoster infection caused recurrence of phantom limb pain in a man whose left arm had been amputated 7 years previously. It is, to our knowledge, the first such case reported, and it shows the importance of peripheral mechanisms in the generation of phantom limb pain. ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:

    authors: Wilson PR,Person JR,Su DW,Wang JK

    更新日期:1978-05-01 00:00:00

  • Low-incidence cesarean section: 12-year experience.

    abstract::At the Mayo Clinic from 1962 through 1973, 592 cesarean sections were done among 16,181 deliveries (3.7%); 48% were primary procedures, and 52% were performed because of previous cesarean delivery. Regional anesthesia using epidural block recently has replaced a balanced general anesthesia as the anesthesia of choice...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:

    authors: Aard LA,Saed F

    更新日期:1975-07-01 00:00:00

  • Neurofibrosarcoma of skin and subcutaneous tissues.

    abstract::In this report, we describe 13 cases of primary neurofibrosarcoma of the skin. The tumor presumably arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei; h...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/s0025-6196(12)65011-3

    authors: Dabski C,Reiman HM Jr,Muller SA

    更新日期:1990-02-01 00:00:00

  • Evaluation and management of amenorrhea.

    abstract::All women who enter menopause experience amenorrhea unless they receive hormone replacement therapy. In younger women, amenorrhea unrelated to pregnancy and lactation can be a distressing symptom. In addition to its psychologic morbidity, amenorrhea may be the manifesting feature of a wide array of anatomic and endocr...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.4065/72.12.1161

    authors: McIver B,Romanski SA,Nippoldt TB

    更新日期:1997-12-01 00:00:00

  • Psychogenic urinary retention in women.

    abstract::There appears to be a spectrum of psychogenic urinary retention that is seen mostly in women. The degrees of psychiatric disorder and bladder disorder do not necessarily coincide. Some patients with psychogenic retention may have one acute episode temporally related to psychologic trauma. Others may present with probl...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:

    authors: Barrett DM

    更新日期:1976-06-01 00:00:00

  • Pain-free results with sumatriptan taken at the first sign of migraine pain: 2 randomized, double-blind, placebo-controlled studies.

    abstract:OBJECTIVE:To evaluate the efficacy and tolerability of sumatriptan, 50-mg and 100-mg tablets, compared with placebo for treatment of migraine at the first sign of pain. PATIENTS AND METHODS:Two identical multicenter randomized, double-blind, placebo-controlled, single-attack studies were conducted from May through Nov...

    journal_title:Mayo Clinic proceedings

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.4065/78.10.1214

    authors: Winner P,Mannix LK,Putnam DG,McNeal S,Kwong J,O'Quinn S,Richardson MS

    更新日期:2003-10-01 00:00:00

  • Bronchoscopic phototherapy with hematoporphyrin derivative for treatment of localized bronchogenic carcinoma: a 5-year experience.

    abstract::Between December 1980 and April 1986 at our institution, 38 patients with cancer that involved the tracheobronchial tree (a total of 40 carcinomas) completed at least one course of hematoporphyrin derivative phototherapy. A complete response occurred in 13 patients (with 14 carcinomas). Eleven of these carcinomas did ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/s0025-6196(12)61520-1

    authors: Edell ES,Cortese DA

    更新日期:1987-01-01 00:00:00

  • Evaluation of a quantitative D-dimer latex immunoassay for acute pulmonary embolism diagnosed by computed tomographic angiography.

    abstract:OBJECTIVE:To determine the sensitivity and specificity of a quantitative plasma fibrin D-dimer latex immunoassay (LIA) for the diagnosis of acute pulmonary embolism. SUBJECTS AND METHODS:Study subjects were Mayo Clinic Rochester inpatients and outpatients with suspected acute pulmonary embolism; all had undergone quan...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.4065/82.5.556

    authors: Froehling DA,Daniels PR,Swensen SJ,Heit JA,Mandrekar JN,Ryu JH,Elkin PL

    更新日期:2007-05-01 00:00:00

  • Occurrence of potentially detrimental temperature alterations in hospitalized patients at risk for brain injury.

    abstract:OBJECTIVE:To ascertain the incidence and timing of fever in patients at risk for temperature modulation of brain injury resulting from ischemia or trauma. DESIGN:We retrospectively reviewed the medical records of patients admitted between January 1991 and December 1994. MATERIAL AND METHODS:We investigated three grou...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/S0025-6196(11)64885-4

    authors: Albrecht RF 2nd,Wass CT,Lanier WL

    更新日期:1998-07-01 00:00:00

  • Generalized convulsive status epilepticus.

    abstract::Generalized convulsive status epilepticus (GCSE) is a medical emergency that may be associated with severe neuronal injury. The mortality attributable to GCSE ranges from 3 to 35%. The disorder occurs most frequently in the young and the old extremes of the population. GCSE commonly occurs in patients with no history ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/S0025-6196(11)64844-1

    authors: Cascino GD

    更新日期:1996-08-01 00:00:00

  • Survey of physician leadership and management education.

    abstract::Health-care organizations have recognized the need to prepare physicians for various leadership and management positions within their own institutions. In the past, those who desired further education had to search beyond the boundaries of their practice to fulfill this need. The demands of a dynamic and changing heal...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/S0025-6196(11)63574-X

    authors: Scott HM,Tangalos EG,Blomberg RA,Bender CE

    更新日期:1997-07-01 00:00:00

  • Prevalence of restless legs syndrome among native South Americans residing in coastal and mountainous areas.

    abstract:OBJECTIVE:To determine the prevalence of restless legs syndrome (RLS) in native South Americans and identify the impact of geographic location. PARTICIPANTS AND METHODS:An epidemiological telephone survey of RLS symptoms involving natives from coastal and mountainous areas was performed during July 2, 2004, through Se...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.4065/81.10.1345

    authors: Castillo PR,Kaplan J,Lin SC,Fredrickson PA,Mahowald MW

    更新日期:2006-10-01 00:00:00

  • Chronic coronary artery disease: diagnosis and management.

    abstract::Coronary artery disease (CAD) is the single most common cause of death in the developed world, responsible for about 1 in every 5 deaths. The morbidity, mortality, and socioeconomic importance of this disease make timely accurate diagnosis and cost-effective management of CAD of the utmost importance. This comprehensi...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.4065/mcp.2009.0391

    authors: Cassar A,Holmes DR Jr,Rihal CS,Gersh BJ

    更新日期:2009-12-01 00:00:00

  • Preoperative assessment of cardiac patients undergoing noncardiac surgical procedures.

    abstract::A careful clinical history and physical examination are the most important components of the preoperative assessment of the cardiac patient who is to undergo a noncardiac surgical procedure. From these factors and the nature of the surgical procedure planned, a reasonable estimate of potential cardiac risk can be form...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/s0025-6196(12)64980-5

    authors: Freeman WK,Gibbons RJ,Shub C

    更新日期:1989-09-01 00:00:00

  • Uric Acid: A Missing Link Between Hypertensive Pregnancy Disorders and Future Cardiovascular Disease?

    abstract:OBJECTIVE:To determine whether women who had a hypertensive pregnancy disorder (HPD) have elevated uric acid concentrations decades after pregnancy as compared with women who had normotensive pregnancies. PATIENTS AND METHODS:The Genetic Epidemiology Network of Arteriopathy study measured uric acid concentrations in H...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/j.mayocp.2015.05.020

    authors: Weissgerber TL,Milic NM,Turner ST,Asad RA,Mosley TH Jr,Kardia SL,Hanis CL,Garovic VD

    更新日期:2015-09-01 00:00:00

  • Protective effect of lidocaine during regional myocardial ischemia: an altered pathophysiologic response assessed by NADH fluorescence.

    abstract::Studies were undertaken to determine the effects of lidocaine on ischemic myocardium, which was induced by coronary artery constriction in open-chested dogs. A real-time epicardial fluorescent technique to detect in vivo-reduced nicotinamide adenine dinucleotide (NADH) during 60 seconds of ischemia was used. Blood flo...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:

    authors: Baron DW,Walls JT,Anderson RE,Harrison CE Jr

    更新日期:1982-07-01 00:00:00

  • Prognostic value of cardiac troponin T after myocardial infarction: a contemporary community experience.

    abstract:OBJECTIVE:To evaluate the role of cardiac troponin T (cTnT) in predicting death, recurrent ischemic events, and heart failure among community-dwelling persons with first myocardial infarction (MI). PATIENTS AND METHODS:Consecutive Olmsted County, Minnesota, residents with an incident MI between November 6, 2002, and D...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/j.mayocp.2011.11.013

    authors: Gerber Y,Jaffe AS,Weston SA,Jiang R,Roger VL

    更新日期:2012-03-01 00:00:00

  • Making the Case to Study the Volume-Outcome Relationship in Hematologic Cancers.

    abstract::The positive relationship between the volume of health services (hospital and physician) and health-related outcomes is established in the complex surgical treatment of cancers and certain nononcologic medical conditions. However, this topic has not been systematically explored in the medical management of cancers. We...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/j.mayocp.2015.07.003

    authors: Go RS,Bottner WA,Gertz MA

    更新日期:2015-10-01 00:00:00

  • Diabetic peripheral neuropathic pain: case studies.

    abstract::Three case reports in this article illustrate the diagnostic methods used and the treatment course encountered for many patients with diabetic peripheral neuropathic pain (DPNP). Each case addresses an aspect of DPNP: pain that appears to be refractory to initial therapy, DPNP occurring with other medical conditions, ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/s0025-6196(11)61476-6

    authors: Belgrade MJ,Cole BE,McCarberg BH,McLean MJ

    更新日期:2006-04-01 00:00:00

  • Tissue ablation technologies for localized prostate cancer.

    abstract::Traditional treatments for men with localized prostate cancer have included both surgical removal and radiation therapy, with their potential adverse effects on patient quality of life. Thus, there has been increasing interest in the development of minimally invasive procedures that use various technologies to deliver...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.4065/79.12.1547

    authors: Gillett MD,Gettman MT,Zincke H,Blute ML

    更新日期:2004-12-01 00:00:00

  • Childhood acute lymphoblastic leukemia: are routine end-of-therapy bone marrow and cerebrospinal fluid examinations necessary?

    abstract:OBJECTIVE:To ascertain the usefulness of bone marrow and cerebrospinal fluid (CSF) examinations in identifying or predicting relapse in children with acute lymphoblastic leukemia (ALL) before discontinuation of chemotherapy. MATERIAL AND METHODS:We retrospectively reviewed the medical records of 113 children with ALL ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.4065/71.9.854

    authors: Hutt PJ,Sabio H,Gilchrist GS,O'Brien C

    更新日期:1996-09-01 00:00:00

  • Effect of Preprocedural Thrombocytopenia on Prognosis After Percutaneous Coronary Intervention.

    abstract:OBJECTIVE:To assess early and late outcomes, including bleeding, in patients with thrombocytopenia undergoing percutaneous coronary intervention (PCI). PATIENTS AND METHODS:We performed a retrospective single-center study of patients with preprocedural thrombocytopenia (platelet count ≤100,000/μL; n=204) undergoing PC...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/j.mayocp.2016.05.008

    authors: Raphael CE,Spoon DB,Bell MR,Psaltis PJ,Kidd S,Loh SX,Lennon RJ,Singh M,Rihal C,Gulati R

    更新日期:2016-08-01 00:00:00

  • Transesophageal echocardiography: technique, anatomic correlations, implementation, and clinical applications.

    abstract::The introduction of transesophageal echocardiography has provided a new acoustic window to the heart and mediastinum. High-quality images of certain cardiovascular structures [left atrial appendage, thoracic aorta, mitral valvular apparatus, and atrial septum] can be obtained readily (average examination, 15 to 20 min...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/s0025-6196(12)65529-3

    authors: Seward JB,Khandheria BK,Oh JK,Abel MD,Hughes RW Jr,Edwards WD,Nichols BA,Freeman WK,Tajik AJ

    更新日期:1988-07-01 00:00:00

  • Stroke risk and outcomes in patients with traumatic brain injury: 2 nationwide studies.

    abstract:OBJECTIVE:To investigate whether patients with traumatic brain injury (TBI) have an increased risk of stroke or poststroke mortality. PARTICIPANTS AND METHODS:Using Taiwan's National Health Insurance Research Database, we conducted a retrospective cohort study of 30,165 patients with new TBI and 120,660 persons withou...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/j.mayocp.2013.09.019

    authors: Liao CC,Chou YC,Yeh CC,Hu CJ,Chiu WT,Chen TL

    更新日期:2014-02-01 00:00:00

  • Second malignant lesions after therapy for Hodgkin's disease.

    abstract::Among 169 adult pathologically staged patients with Hodgkin's disease who were treated at the Mayo Clinic between 1974 and 1978, we identified four cases of second malignant lesions that developed. The median duration of follow-up after diagnosis for the entire population was 4.1 years. Of the 169 patients, 73 receive...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/s0025-6196(12)60440-6

    authors: Schomberg PJ,Evans RG,Banks PM,White WL,O'Connell MJ,Earle JD

    更新日期:1984-07-01 00:00:00

  • Post-September 11, 2001, Incidence of Systemic Autoimmune Diseases in World Trade Center-Exposed Firefighters and Emergency Medical Service Workers.

    abstract:OBJECTIVE:To estimate the incidence of selected systemic autoimmune diseases (SAIDs) in approximately 14,000 male rescue/recovery workers enrolled in the Fire Department of the City of New York (FDNY) World Trade Center (WTC) Health Program and to compare FDNY incidence to rates from demographically similar men in the ...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.1016/j.mayocp.2015.09.019

    authors: Webber MP,Moir W,Crowson CS,Cohen HW,Zeig-Owens R,Hall CB,Berman J,Qayyum B,Jaber N,Matteson EL,Liu Y,Kelly K,Prezant DJ

    更新日期:2016-01-01 00:00:00

  • Cellular telephone interference with medical equipment.

    abstract:OBJECTIVE:To assess the potential electromagnetic interference (EMI) effects that new or current-generation cellular telephones have on medical devices. MATERIAL AND METHODS:For this study, performed at the Mayo Clinic in Rochester, Minn, between March 9, 2004, and April 24, 2004, we tested 16 different medical device...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章

    doi:10.4065/80.10.1286

    authors: Tri JL,Severson RP,Firl AR,Hayes DL,Abenstein JP

    更新日期:2005-10-01 00:00:00

  • Abdominal Wall Pain: A Common Clinical Problem.

    abstract::Abdominal wall pain (AWP) is a common and underrecognized cause of chronic abdominal pain. The etiology of AWP varies. History and physical examination are critical to an accurate diagnosis of AWP. Trigger point injection using either a corticosteroid, a local anesthetic, or a combination of both often gives relief of...

    journal_title:Mayo Clinic proceedings

    pub_type: 杂志文章,评审

    doi:10.1016/j.mayocp.2018.04.031

    authors: Sweetser S

    更新日期:2019-02-01 00:00:00