The HerediGENE ®Test

brca gene mutation

Hereditary cancer testing |How it Works

The HerediGENE® test is performed by analyzing 52 genes involved in the genetic predisposition to cancer, 21 of which are related to the Homologous Recombination (HR) complex. The content of the analysis covers the most important genes associated with hereditary predisposition to cancer.

The Technology of HerediGENE®

HerediGENE® test is designed to achieve maximum sensitivity and specificity. Sequencing is performed through the Illumina platform using advanced Next Generation Sequencing (NGS) technology to fully analyze a group of genes associated with inherited cancer syndromes. Analysis of large genomic rearrangements is also included in HerediGENE.

The vast majority of individuals who receive a positive finding from the HerediGENE analysis will receive results for which there are already available guidelines for the individualized clinical management of the subject.

Who should undertake genetic cancer screening?

All cases of breast cancer, according to the
     American Society of Breast Surgeons latest guidelines.

Early stage of onset of any type of cancer

 Individuals with multiple primary tumors

Bilateral cancers

 Same type of cancer occurring in close relatives

Cancer incidence in multiple generations of a family

 Rare tumor occurrence at any age

the presence of physical signs  which are known to be  associated with hereditary cancer
      (such as moles and melanoma, or cancerous polyps and colon cancer)

Family history of cancer – Several first-degree relatives (mother, father, sisters, brothers, children) with cancer especially if they’ve had the same type of cancer

 You or a close relative with a rare cancer that is linked to inherited cancer predisposition syndromes

 A physical finding that is linked to an inherited cancer predisposition

One family member (parent, sibling, child, grandparent, uncle, aunt, nephew or niece) diagnosed with breast cancer at age 45 or younger

Personal history of breast cancer at any age AND two or more family members diagnosed with breast, pancreatic and/or prostate cancer at any age

Personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger

 A personal or family history of male breast cancer

 Several different types of cancer occurred independently in the same person

 Cancer that has developed in a set of paired organs (both breasts, both kidneys)

 Several close blood relatives that have the same type of cancer (e.g. a mother, daughter, sister with breast cancer)

 Belonging to a racial/ethnic group known to have an increased chance of having a certain hereditary cancer syndrome (e.g. Ashkenazi Jewish) and having one or more of the above features as well

 Rare tumor occurrence at any age

Why HerediGENE® Test :

  • The NGS analysis of 52 genes according to the international guidelines, where 21 of them are involved in Homologous Recombination 
  • A comprehensive analysis: The assay targets all coding regions of the genes analyzed and 20 base pairs of flanking intronic sequences. Copy number variation (CNV) analysis is also included.
  • Verification of all positive results through alternative methods
  • Constant updates according to international guidelines
  • An experienced, dedicated team with numerous international publications on hereditary cancer

Why a Multi-gene Genetic Test?

It helps physicians individualize patients’ surgical and pharmaceutical management.

It detects which family members belong to the high-risk category and who can benefit from a personalized risk reduction program.

International guidelines recognize the value of the use of multi-gene panels for hereditary cancer as:

  •  Cost effective
  •  More efficient
  •  More informative

Genekor provides continuous scientific and procedural support to the physician and the patient from our experienced team before, during the process and after the test.  If you have any questions or information about the cost of genetic testing for cancer contact us at +30 210 6032138

FAQs

Yes BRCA1/2 genes are included in addition to 50 more genes shown in the table.

The main types of cancer covered by HerediGENE include but are not limited to Breast, Ovarian, Prostate, Colorectal, Endometrium, Melanoma, Pancreatic, Gastric, Endocrine, Kidney

The results obtained by the test are useful for the entire family. When a pathogenic mutation is identified in the majority of cases it is inherited from one of our parents. Siblings and children also have 50% chance of having inherited the same pathogenic mutation. More distant relatives, such as cousins, aunts, uncles and grandparents, are also at risk of carrying the pathogenic mutation identified in your sample even if they have not yet been diagnosed with cancer or if they have a different type of cancer than the one diagnosed in you. Knowledge about this predisposition can help guide their surveillance plan, leading to earlier detection of cancer at a stage when it is more easily managed.

Note that hereditary cancer predisposition syndromes can be associated with many different types of cancer. This means, that even if the mutation detected in your sample is mostly associated with breast or ovarian cancer it can also increase the risk of prostate or pancreatic cancer, for example. This in turn means that the knowledge about carrying a pathogenic mutation is equally important for both male and female relatives. Please ask your physician to help you identify which relatives should be tested for the mutation identified.

Despite the fact that BRCA1 and BRCA2 are the two most significant genes in hereditary breast and ovarian cancer predisposition, twenty years of analysis has highlighted the fact that mutations in these two highly penetrant genes are only present in approximately 20% of high risk families. Recent studies have shown that analysis of a panel of genes related to hereditary cancer predisposition increases the chance of identifying a pathogenic mutation by as much as 14%.

If a mutation is not identified when only BRCA1/2 are analyzed then your physician may ask you to have additional genes analyzed in order to identify the underlying genetic cause of your condition. If this is done sequentially it increases the time and cost of the analysis.

Hereditary cancer predisposition genes can be categorized according to the relative risk for cancer that they confer to pathogenic mutation carriers. In this aspect, three categories can be identified. Genes in which mutation confers a relative cancer risk of 5 or higher are known as “high penetrance genes”. A relative risk of 1.5 or lower is associated with “low penetrance genes”. Genes that confer the intermediate range of 1.5-5 are known as “intermediate penetrance”. Therefore, absence of a family history may mean that the mutation in your family is found in an intermediate or low penetrance gene.

Variability in clinical presentation of the syndrome, as well as other environmental and life-style differences between individuals in the same family can make it difficult to identify at risk individuals and the classic criteria originally used to define many of the hereditary cancer syndromes have limited sensitivity and specificity for detecting germline mutation carriers.

Factors that may limit the informativeness of the family are:

  • incomplete family history assessment
  • unavailable medical records
  • small family size
  • small number of individuals of the susceptible gender in sex-limited cancers
  • early death of key individuals in the family, from causes other than cancer, before the average age of onset of the phenotype,
  • prophylactic surgeries that remove the organ at risk
  • false paternity or adoption
  • inaccurate or incomplete information on family members
  • failure to investigate all types of cancer in the family

The results of the HerediGENE Assay will be available in 20 working days.

Whole peripheral blood in EDTA vials (2 vials) or Saliva sample. Genekor DOES NOT perform blood sample collections so you need to contact your doctor or any other laboratory which performs this kind of collections so you can get the sample.

For information on the cost coverage of the test you should contact your personal insurance.

Genekor Medical S.A. is certified with ELOT EN ISO9001:2008 and accredited with ELOT EN ISO15189:2012, which require the written consent of each patient for the use of his/her genetic material for testing.

The sample should be held in room temperature (25°C). During the summer period we recommend to have an ice pack in the Kit (The ice pack SHOULD NOT directly touch the samples).

Table of Genes Analyzed

The latest international guidelines (ASCO, ESMO, NCCN and American Society of Breast Surgeons) strongly recommend, instead of BRCA1/2 only, the use of multi-gene panels for a better coverage of the gene variants associated with an increased risk of breast, prostate, colon, pancreatic, ovarian cancer etc.

brca gene mutation

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