Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

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122 Applying Pharmacogenomics in TherapeuticsTABLE 5.3Examples of Inherited Cancer Susceptibility SyndromesCancer Hereditary SyndromeBreast andovaryHereditary breast and ovariancancerMajorGenes Gene FunctionBRCA1,BRCA2Mode ofInheritanceTumor suppressor Dominant High-penetrancemutationsLi–Fraumeni syndrome P53 Tumor suppressor DominantCowden syndrome (breast) PTEN Tumor suppressor DominantHNPCC/Lynch syndrome(ovary)Ataxia telangiectasia (breastand ovary)Peutz–Jeghers syndrome(breast)Colorectal HNPCC/Lynch syndrome(ovary)MLH1,MSH2,MSH6,PMS2DNA repair Dominant High-penetrancemutationsATM DNA repair RecessiveSTK11 Tumor suppressor DominantCHEK2 Tumor suppressor Dominant CHEK2 c.1100delC(intermediatepenetrancemutations)MLH1,MSH2,MSH6,PMS2DNA repair Dominant High-penetrancemutationsPenetrance of ExampleVariants InterventionMammography, MRIscreening, riskreducingsurgeryNone provenEndoscopy,prophylacticcolectomy afterdiagnosis ofmalignancy(Continued)
Pharmacogenomics and Laboratory Medicine123TABLE 5.3 (Continued)Examples of Inherited Cancer Susceptibility SyndromesCancer Hereditary SyndromeFamilial adenomatouspolyposis (FAP)MajorGenes Gene FunctionMode ofInheritanceAPC Tumor suppressor Dominant High-penetrancemutationsAttenuated FAP APC Tumor suppressor DominantMUTYH-associated polyposis MUTYH DNA repair RecessiveJuvenile polyposis SMAD4/DPC4Tumor suppressor DominantPenetrance of ExampleVariants InterventionAPC p.I1307K(intermediatepenetrancemutations)Thyroid RET Dominant High-penetrancemutationsProstate Hereditary breast and ovarian BRCA1, Tumor suppressor Dominant High-penetrancecancerBRCA2mutationsLi–Fraumeni syndrome P53 Tumor suppressor DominantEndoscopy,prophylacticcolectomyNone proven for APCp.I1307KProphylacticthyroidectomy
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ApplyingPharmacogenomicsin Therapeu
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DedicationWe dedicate this book to
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viiiContentsChapter 10 Pharmacogeno
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EditorsXiaodong Feng, PhD, PharmD,
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ContributorsWeiguo Chen, PhDDepartm
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1Concepts inPharmacogenomics andPer
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Concepts in Pharmacogenomics and Pe
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2Principles ofPharmacogeneticBiotec
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Principles of Pharmacogenetic Biote
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11 PharmacoeconogenomicsA Good Marr
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Pharmacoeconomics of Pharmacogenomi
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5’3’5’3’ 5’3’ 5’3’3
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1 2 3 4 5Vysis LSI BCR/ABL + 9q34 t
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BIOMEDICAL SCIENCEApplying Pharmaco
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Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

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