Course Description

The course will cover basic and advanced concepts in cancer genomics and will address practice guidelines created and adopted by authoritative resources such as ACMG, AMP, ASCO and NCCN. The major focus will be on the applications of cytogenetic and molecular genetics in the diagnosis, prognosis and therapeutics. The didactic and core lectures will be supplemented by clinical case discussion in germline genetics, hematopathology and solid tumors.

Learning objectives:

Somatic Cancers

Describe the use of cytogenetics in somatic cancer

Describe molecular profiling in somatic cancer

Describe variants using appropriate nomenclature

Interpret variants according to standardized criterion

Hereditary Cancers

Describe the pathogenesis of the most common inherited cancer syndromes

Describe the methods for detection and interpretation of results for the disorders

Describe variants using appropriate nomenclature

Interpret variants according to standardized criterion

Discuss detection as secondary findings of NGS testing

Prerequisites, Gene 500 (or concurrent enrollment) or permission of Dr. Hart

Target audience: Laboratory Genetics and Genomics (LGG fellows) and others seeking Certification by the American Board of Medical Genetics and Genomics

Textbook Information

**Please note the GENE 527 textbook is not returnable even if the course is cancelled**

The required textbook for GENE 527 can be purchased through FAES or on your own.

Name of Textbook: An International System for Human Cytogenomic Nomenclature, 2020.

Textbook Fee: $69.00.

Instructions for purchasing textbook: Register for the section with book (GENE 527-002). Upon receipt of payment and fulfillment of your book order, FAES will notify you that the textbook can be picked up at the FAES Bookstore in Building 10 on the NIH main campus in Bethesda.

If you are unable to pick up the textbook at the FAES Bookstore and would like the textbook mailed to you, contact FAES at (301) 496-7976 or registrar@faes.org.  There is an $11 mailing fee.