Genetic Testing and Precision Medicine in Cancer Mehrdad Zeinalian MD MPH PhD of Molecular Medicine Summer 2016 7272016 2 Dr Zeinalian What is Cancer 7272016 3 Dr Zeinalian 7272016 ID: 920327
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Dr Zeinalian
Slide2Genetic Testing and Precision Medicine in Cancer
Mehrdad
Zeinalian
MD, MPH, PhD of Molecular Medicine
Summer 2016
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Slide3What is Cancer?
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Slide6Gene mutations: Somatic or
Germline
?
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Slide7Knudson two-hit Hypothesis
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Slide10Cancer Genetic Counseling
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Slide15Molecular Biomarkers in Cancer
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Slide19Applications of Molecular
biomarkers in Cancer
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1- Diagnostic
2- Predictive
3- Prognostic
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Slide20Diagnostic Usage of Molecular biomarkers
Sporadic cancers
Hereditary Cancer Syndromes
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Slide21Philadelphia Chromosome in CML
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Slide22Hereditary Cancer Syndromes
Syndrome
Predominant cancer
Involved genes
Lynch (HNPCC)
Colorectal,
uterus
cancerMLH1, MSH2, MSH6, PMS2Hereditary breast and ovarian cancerBreast & Ovarian cancersBRCA1/2
Familial Adenomatous Polyposis (FAP)
Colorectal cancerAPC
MYH-associated Polyposis (MAP)
Colorectal cancer
MUTYH
Li-
Fraumeni
Breast
cancer,
osteosarcoma, blood sarcoma,
leukemias
, soft tissue sarcomas
TP53, CHEK2
Peutz-Jeghers
GI,
breast, pancreas, Cervix, Ovarian cancer
STK11
Cowden
Breast, Thyroid, uterus,
colorectal,
kidney cancers, and melanoma.
PTEN
,
SDHB
,
SDHD
, and
KLLN
Hereditary diffuse gastric cancer (HDGC)
Gastric
(diffused-type) & Lobular breast cancers
CDH1
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Slide23Therapeutic Usage of Molecular biomarkers
Targeted Therapy
Hormone therapy
Monitoring
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Slide29Hormone therapy in Breast cancer
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Slide30Prognostic
Usage of Molecular biomarkers
Some molecular biomarkers have a prognostic role in cancer.
Some important examples:
ER, PR
,
HER2
in breast cancer
KRAS, BRAF, and MSI in colorectal cancerVEGF in the most cancers7/27/201630
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Slide327/27/2016
Dr Mehrdad Zeinalian, Department of Genetics, School of medicine, Isfahan University of Medical Sciences
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Thanks for your attention