Identifying germline mutations associated with cancer predisposition and risk

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

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 heritable mutations can lead to the development of preventive measures to reduce the likelihood of developing cancer.

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


Microarrays offer an economical method for studying germline mutations in cancer. With arrays, hundreds of thousands of single nucleotide polymorphisms (SNPs) can be studied across large sample sets simultaneously. Learn more about the development of the iCOGS array (later commercialized as the Infinium OncoArray) in the Nature Genetics article below.

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NGS enables researchers to rapidly sequence known or suspected hereditary cancer-related genes to detect germline mutations and/or identify novel germline variants. Whole-genome sequencing provides a complete picture of germline mutations across the cancer genome. Targeted sequencing studies assess only the genes that have known associations with cancer predisposition, reducing sequencing costs and data analysis burdens. 

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Germline mutations that might predispose individuals to cancer can be studied through various approaches, ranging from genome-wide association studies (GWAS) to whole-genome and targeted sequencing approaches.

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

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

Infinium OncoArray-500K BeadChip

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

Infinium iSelect HD and HTS Custom Genotyping BeadChips

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

TruSight Cancer Sequencing Panel

Expert-defined content targeting 94 genes and 284 SNPs associated with a predisposition towards various cancers.

AmpliSeq for Illumina BRCA Panel

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

MiniSeq System

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

MiSeq System

The MiSeq sequencer enables interrogation of a wider range of mutations than is possible with traditional technologies.

MiSeqDx System

First FDA-cleared in vitro diagnostic NGS system designed specifically for the clinical laboratory environment. Also runs in research mode.

NextSeq 550 System

High-throughput sequencing and BeadChip array scanning on a single instrument.

NovaSeq 6000 System

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

VariantStudio Data Analysis Software

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.

Illumina DRAGEN Bio-IT Platform

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

Illumina DRAGEN Germline Pipeline

Rapid analysis of germline variants from NGS data.

BaseSpace Sequence Hub

Simple, secure, flexible NGS data analysis and management.

GenomeStudio Software

Visualize and analyze data generated on Illumina microarray scanners.

Targeted Cancer Sequencing

Focus on a set of genes with known cancer associations.

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Cancer Whole-Genome Sequencing

See a comprehensive view of the unique mutations present in tumor tissue.

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Microarray Analysis

From discovery applications to routine screening, microarrays are a valuable tool for variant detection.

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RNA Biomarkers for Drug Response

RNA sequencing (RNA-Seq) is increasingly being used to discover and profile RNA-based drug response biomarkers. Find resources designed to help you adopt RNA-Seq for biomarker analysis, including a workflow introduction, experimental considerations, and start-up advice.

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RNA Biomarkers for Drug Response
The Promise of Cancer Predisposition Genes

Dr. Rahman reviews characteristics of known cancer predisposition genes and potential prospects of future discoveries.

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A Collaborative Model for Oncology Studies

An iCOGS Focus from Nature comprising a collection of 13 papers from COGS.

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NGS Technologies Fuel Cancer Research
NGS Technologies Fuel Cancer Research

Endocrinology researchers use Illumina sequencing to discover causative variants of heritable endocrine cancer.

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Exploring the Forgotten Genome of Cancer Research
The Forgotten Genome of Cancer Research

A Garvan Institute sarcoma study identifies rare cancer-associated variants in the germline.

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