IBBIOTECH

Genetic illnesses research

Please request a personalize kit fir the test

Obtaining the sample at home

Genetic is an essential tool in Medicine since a considerable percentage of human health problems have a hereditary component. Any genetic based illness can be diagnosed through molecular biology techniques.

Previous to the study, we will need the family history as well as an evaluation of the case. IB Biotech has a wide variety of the most modern technologies applied to the diagnosis.

OTHER ILLNESSES:

• Thrombosis and hereditary thrombophilia.
• Ataxias research.
• Study of myotonic dystrophy expansion.
• Study of markers for the Duchenne muscular dystrophy.
• Study of the Huntington’s Corea expansion.
• Marfan’s syndrome study.
• Deafness studies.
• Hidroxilasa.
• Polifosis Adenomatosa familiar.

CANCER

Gynaecologic and breast cancer

1 in 8 women will suffer from breast cancer along our lives, and most of them have an hereditary component. Thanks to genetics we can study if we have the predisposition and we can take the appropiate preventive measures. IB BIOTECH is a pioneer centre in thestudy of linked genes.

Most kinds of breast cancer are sporadic cancer, that is, there are no signs of hereditary susceptibility of suffering the illness. But here is a proportion; it is estimated to be around 10%, where there is a hereditary predisposition to suffering cancer. One third hereditary breast cancer are due to a mutation in BRCA1, other third are due to mutations in BRCA2 and the rest are due to other genes. Breast cancer associated to BRCA1 mutations show up at the pre-menopause (around 42 years of age) and the contralateral breast cancer rate after five years is approximately of 30% in women carrying the BRCA1 mutation. The BRCA2 genetic alterations are linked to masculine breast cancer.

Next we explain some situation when is useful to do this kind of study:

• Families with only one case of breast cancer
  Bilateral primary breast cancer before the age of 40.
  Breast cancer before the age of 30.
  Breast and ovary cancer in the same patient.
• Families with two cancer cases in first grade family members:
  Two breast cancer being diagnose, at least one f them before the age of 50 or bilateral.
  Two or more cases of ovary cancer.
  One breast cancer and ovary cancer in two family members.
  One breast cancer case in a woman and one breast cancer case in a male.
• Families with three or more breast cancer affected members, at least two in first grade family members (mothers, daughters or sisters).

IB Biotech offers two leves of study of the BRCA1 and 2 gene mutation:

• Complete sequence of the codified regions of the BRCA1 and/or 2 gene.
• Study of the most frequent mutations. Where we analyze the most prevalent mutation in the 50% of cases with alterations in those genes:
  *BRCA1: 187-188delAG; 330A>G; 5236G>A; 5242C>A y 589-590delCT.
  *BRCA2: 3036-3039del ACAA; 6857-6858delAA; 9254-9258del5; 9538-3539delAA y 5374-5377delTATG.

Rectal colon cancer

Colon cancer is the second most frequent cause of death by cancer in the western world and around 5% of the population will suffer it.

Fortunately, at IB BIOTECH, we can carry out a complete study of the 100% of the affected genes that cause it and then we can rule out the hereditary colon cancer or we can take prevention measures to improve the predisposition to suffer it.

The exact causes of the colorectal cancer are unknown in most cases, although we do know that are risk factors that favour its appearance. Some genetic syndromes increase the risk of developing colorectal cancer. The ones we know most are “Familial Adenomatous Polyposis (FAP)” and “No Polyposis Hereditary Colon Cancer (NPHCC) or Lynch Syndrome”)

Familial Adenomatous Polyposis (FAP)

The FAP is a hereditary illness characterized by the presence of multiple polyps (>100), that cause 1% of all colon cancer cases. Almost all patients will develop colon cancer before the age of 50. Very often is accompanied by gastric polyps and other extra digestive signs.

The identification of the gene APC (Adenomatous Polyposis Coli) mutation, allow us to diagnose the pathology. In addition to the gene APC analysis in the “index case” (the person being diagnose with FAP), it is important to offer the appropriate genetic advise to inform the family members about the risk of the illness, the importance of the illness monitoring and the significance of the genetic test result.

No Polyposis Hereditary Colon Cancer (NPHCC)

It is an hereditary illness that cause 5% of all colon cancer cases. It does characterized by the early development of colon cancer and it has a high tendency to symptoms at the same time of after the first colon cancer, in the rectal colon, as well as other tumours in other organs. There have been identified mutations in the genes hMLH1, hMSH2, hMSH6 and PMS2 as responsible for that pathology. Around half of those cases are due to the gene hMLH1 mutation and almost 50% are due to the gene hMSH2 mutation. The rest of the group are due to other genes mutations (hMSH6, PMS2).

Next we explain some of the situations in which are useful to carry out this study:

• Three or more family members affected by a neoplasia of NPHCC and one of them being a first grade relative regarding the other two.
• At least two consecutive generations must be affected.
• One of the patients affected should be diagnose before the age of 50.

Difusse gastric cancer

Gastric cancer is the second cause of death y cancer in the world. Approximately 3% are hereditary. The suspicion is based on the family medical history and its confirmation requires a genetic study. In 40% of the families it is possible to identify the gene CDH1 caderina- E mutation that allows distinguishing the carriers from the ones free of the mutation.

Next we explain some of the situations in which is useful to carry out the test:

• Two or more documented cases of gastric cancer in first or second grade family members with at least one of them being diagnose before the age of 50.
• Three or more cases regardless the age.

If you require a genetic study of a specific illness do not hesitate to contact us.

For a specific assessment of your illness you can request an appointment or if you can’t come to our clinic you can request an on-line medical appointment or directly do test in the comfort of your home. Please request a personalize kit for the test.

The test

The test to determine if a person is affected by an illness it can be done, preferable, through a blood test, and you can also request a kit to take the samples at home, in this case you will need to take a sample through an oral smear test.

The procedure is very simple. In the kit you will receive, you will find a sterilize cotton/wool tip, with which you will need to rub the inside part of your mouth. Please handle the samples with care. Do not touch the cotton-wool tips with the fingers. Once you have taken the sample and packed away appropriately, as shown in the instructions, you will send it to us together with appropriate filled in forms you received with the kit.

Please request a personalize kit fir the test

Obtaining the sample at home