Hereditary Cancer Germline Genetic Testing

Last Literature Review: November 2022 Last Update:

Medical Experts

Contributor

Ji

Yuan Ji, PhD, DABCP, FACMG
Associate Professor of Pathology (Clinical), University of Utah
Section Chief, Molecular Genetics and Genomics, ARUP Laboratories

Inherited cancer syndromes are genetic conditions that cause a predisposition to certain types of cancer. Specific cancer risks vary depending on the gene involved. Laboratory testing is used to determine whether an individual has inherited a familial predisposition to cancer and whether there is a risk of passing the condition to offspring. In some types of cancer, laboratory testing may also be used to screen for, monitor, and assess risk of tumors.

Indications for Testing

Genetic counseling should be offered to any individual who is considered to be at risk for hereditary cancer.  Genetic testing may be recommended in some clinical circumstances and may inform medical management of the tested individual and any at-risk family members.

Laboratory Testing

Initial testing to diagnose a hereditary cancer syndrome in a family may entail a multigene panel or single gene testing, depending on the differential diagnosis. For family members of individuals with a known pathogenic variant, targeted testing for that familial variant is recommended.

The following ARUP Consult content discusses in more detail when germline genetic testing for hereditary cancer syndromes should be considered.

Testing Topics

 

Breast Cancer Biomarkers


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Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer


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Multiple Endocrine Neoplasias


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Ovarian Cancer Biomarkers


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Prostate Cancer


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Pheochromocytoma - Paraganglioma


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Other topics that discuss testing for hereditary cancer disorders include:

Bladder Cancer

Gastrointestinal Stromal Tumors (GISTs)

Myelodysplastic Syndromes

Neuroblastoma

Non-Small Cell Lung Cancer - Non-Small Cell Lung Cancer Molecular Markers

Pancreatic Neuroendocrine Tumors - PNETs

Primary Brain Tumors - Brain Tumor Molecular Markers

Soft Tissue Sarcomas

Test Fact Sheets

APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication

Genetic Testing for Hereditary Paraganglioma/Pheochromocytoma

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

Hereditary Breast and Gynecologic Cancers Panel

Hereditary Breast Cancer (Including BRCA1 and BRCA2)

Hereditary Cancer Panel

Hereditary Erythrocytosis Panel, Sequencing

Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication

Hereditary Myeloid Neoplasms Panel, Sequencing

Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication

Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication

Hereditary Renal Cancer Panel

Lynch Syndrome Panel, Sequencing and Deletion/Duplication

Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication

Multiple Endocrine Neoplasia Type 2, RET Sequencing

Neurofibromatosis Type 1 Sequencing and Deletion/Duplication and Legius Syndrome Sequencing Panel

Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication