Identifying germline mutations associated with cancer risk and predisposition

Analyze germline mutations that predispose individuals to cancer using next-generation sequencing and microarrays

Germline Mutation Detection in Cancer

Germline mutations, also called hereditary mutations, are passed on from parents to offspring. Inherited germline mutations play an important role in cancer risk and susceptibility. Knowledge of these hereditary mutations can lead to the development of preventive measures to reduce the likelihood of developing cancer.

Inherited mutations associated with hereditary cancer risk can be analyzed through various approaches, including next-generation sequencing (NGS) and microarrays.


NGS methods enable researchers to rapidly sequence known or suspected hereditary cancer risk-related genes. NGS can detect large numbers of germline mutations at once and/or identify novel germline variants linked to cancer.

Whole-genome sequencing provides a comprehensive picture of germline mutations across the entire cancer genome. Targeted sequencing studies use hereditary cancer panels to assess only the genes that have known associations with cancer predisposition, reducing sequencing costs and data analysis burdens.

Germline Mutation Linked to Familial Melanoma

Researchers used high-throughput sequencing to identify a germline mutation in the promoter of the telomerase reverse transcriptase gene.

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Microarrays offer an economical method for studying germline mutations in cancer. With arrays, hundreds of thousands of known single nucleotide polymorphisms (SNPs) can be studied across large sample sets simultaneously.

These studies can provide insight into genetic risk factors linked to cancer as well as genotypes associated with drug response.

Development of a Cancer Genotyping Array

This Nature Genetics article discusses the development of the iCOGS array, commercialized as the Infinium OncoArray, for hereditary cancer risk assessment research.

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Hereditary Cancer Risk Research Articles

Healthcare professional reviewing results
Predicting Cancer Risk

Researchers at City of Hope use NGS to understand the polygenicity of cancer and perform hereditary cancer risk assessment studies.

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NGS Oncology
The Changing Landscape of NGS Implementation in Molecular Diagnostic Laboratories

Key opinion leaders discuss the ongoing challenges and potential of NGS in oncology testing.

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Tobacco Leaves
Exploring the Genetic Basis of Oral Cancer

Researchers identify a variety of genomic alterations, including germline mutations, that may influence a deadly oral cancer.

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Bringing Oncology-Based Genetic Testing to Latin America

Sandra Balladares, Ph.D., Global Marketing Manager at Illumina and breast cancer survivor, describes her efforts to bring genetic testing to Hispanic cancer patients in Latin America and educate local healthcare officials about hereditary cancer risk assessment.

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Sandra Balladares during cancer treatment

Germline mutations that might predispose individuals to cancer can be studied through various approaches, including targeted sequencing.

Researchers can focus on specific genes of interest using predesigned hereditary cancer gene panels, or develop their own custom targeted sequencing panels.

Click on the below to view products for each workflow step.

TruSight Hereditary Cancer Panel

Expert-defined research panel targeting 113 genes associated with genetic cancer risk predisposition.

AmpliSeq for Illumina BRCA Panel

Targeted research panel investigating somatic and germline variants in BRCA1 and BRCA2.

AmpliSeq for Illumina Custom Panels

Create amplicon panels optimized for content of interest with our free, user-friendly online tool.

TruSight Cancer Sequencing Panel

Expert-defined research panel targeting 94 genes associated with a predisposition towards various cancers.

iSeq 100 System

The smallest, most affordable Illumina sequencer. Enables targeted or small genome sequencing in any lab.

MiniSeq System

A simple, affordable solution for low-throughput targeted sequencing.

MiSeq System

Focused power. Speed and simplicity for targeted and small genome sequencing.

MiSeqDx System (in Research Mode)

First FDA-regulated, CE-in vitro diagnostic (IVD) marked, NGS platform designed specifically for the clinical laboratory environment. Also runs in research mode.

NextSeq 550 System

Flexible sequencing and BeadChip array scanning on a single instrument.

NextSeq 550Dx Instrument (in Research Mode)

FDA-regulated, CE-in vitro diagnostic (IVD) marked, high-throughput NGS platform that also runs in research mode to enable clinical research.

NovaSeq 6000 System

Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.

Illumina DRAGEN Germline Pipeline

Rapid analysis of germline variants from NGS data.

BaseSpace Variant Interpreter

A powerful variant analysis and reporting tool that enables researchers to identify and classify disease-relevant variants quickly, and then report significant findings in a structured format.

BaseSpace Sequence Hub

Simple, secure, flexible NGS data analysis and management.

Illumina DRAGEN Bio-IT Platform

The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of NGS data.

A polygenic risk score represents an approximation of an individual’s genetic risk for disease, based on the sum of the risk alleles for a disease trait, relative to the population.

Learn More About Polygenic Risk Scores
Bioinformatics is Laying the Groundwork for New Treatment Possibilities for Cancer Patients
Infinium OncoArray-500K BeadChip

Comprehensive, high-density array for interrogating ~500,000 genome-wide SNPs associated with cancer risk.

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Infinium iSelect Custom Genotyping BeadChips

Design your own custom genotyping panels for interrogation of up to 1 million markers (SNPs, indels, and CNVs).

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GenomeStudio Software

Visualize and analyze data generated on Illumina microarray scanners.

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Identifying Sarcoma-Associated Germline Variants

Garvan Institute researchers used NGS with hereditary cancer gene panels to investigate the genetic determinants of early onset sarcomas. Their studies revealed rare cancer-associated variants in the germline. Their next steps include whole-genome sequencing to gain further insights into sarcoma risk.  

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Cancer-Associated Germline Variants
Targeted Cancer Sequencing

Focus on a set of known genes associated with cancer predisposition.

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Cancer Whole-Genome Sequencing

Get a comprehensive view of the genomic alterations present in tumor tissue, including novel germline variants.

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Microarray Analysis

Offering flexible content and scalable multiplexing, our microarrays enable diverse applications.

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The Promise of Cancer Predisposition Genes

Dr. Rahman reviews characteristics of known cancer risk-associated genes and potential prospects of future discoveries.

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A Collaborative Model for Cancer Risk Studies

These Nature Genetics papers focus on advances in understanding genetic susceptibility to hormone-related cancers.

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