Hereditary Diseases Studies

Hereditary Diseases Studies 2017-08-29T16:10:55+00:00

enfermedadeshereditariasHereditary cancer originates due to genetic alterations or pathogenic DNA mutations in one or more genes. A type of Cancer can be recognized when it affects different members of the same family for generations.

Currently genetic causes of all types of cancer remain unknown but a number of mutations have been identified which increase the risk of suffering from these pathologies. Knowing these mutations through molecular studies allow you to identify the genetic familiar mutation to make a special follow-up of the members of the family who carry that alteration and to be able to prevent the disease.

In all cases of hereditary diseases, genetic counseling is recommended for providing a proper diagnosis and follow-up of the affected relatives.

HEREDITARY DISEASES Download files

Breast Cancer (HBOC)

eh-mama

Among the cases of breast cancer we can distinguish those occurring spontaneously, that is to say in women without strong family history; these represent 80% to 90%. However, 5% to 10% occur in women with a clear family history; this is the case of hereditary breast and ovary cancer. This hereditary predisposition is mainly associated with mutations in tumor suppressor genes, BRCA1 and BRCA2 (for its acronym in English: Breast Cancer 1 and 2).

A woman with an inherited mutation of the BRCA genes is more likely to suffer from breast and / or ovarian cancer at some point in their lives than a woman without that mutation.

Detection of mutations in the BRCA1 and BRCA2 genes in families with established clinical criteria allow to identify individuals at high risk. The management of these patients should be individualized and performed in a multidisciplinary context. Therefore a more thorough understanding of the risks associated with the presence of a germline mutation in the BRCA1 or BRCA2 genes will optimize the design of strategies for primary or secondary prevention.

It is recommended that women with a marked family history of breast cancer, ovarian cancer, or both, receive genetic counseling to calculate their risk of having a mutation in one of the BRCA genes. A genetic counselor estimates risk based on the history of cancer of the patient and the history of cancer in their family.

More info: Cáncer de Mama y Ovario Hereditario:BRCA1 y BCRA2 

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
BRCA1 y BRCA2 Routine Diagnostic Mutations NGS MhBA12ng

 

Biomarkers Panels CMOH

Mutations Panel Judío Ashkenazí Routine Diagnostic Mutations
BRCA1 185delAG and 5382insC
BRCA 2: 6174delT
S. Sanger MhPJAsa
Breast Cancer Panel In research
Diagnostic ACVR1B EP300 IRAK4 PBRM1 TP53
AKT1 ERBB2 ITCH PCGF2 TRAF5
ATM ERBB3 KMT2C PIK3CA WEE1
BAP1 ESR1 MAP2K4 PIK3R1 ZBED4
BRCA1 EXOC2 MAP3K1 PPM1L
BRCA2 EXT2 MDM2 PTEN
CBFB FBXO32 MUC16 PTGFR
CDH1 FGFR1 MYC RB1
CDKN2A FGFR2 NCOR1 RET
EGFR GATA3 NEK2 SEPT9
NGS PtPCMng

*NGS: Next-Generation Sequencing

1. What do the statistics on the HBOC indicate?

In breast cancer it is estimated that:

  • About 12% of women in the general population will suffer from breast cancer sometime in their life.
  • 55 to 65% of women who inherit harmful BRCA1 mutation will suffer from cancer at 70 years old.
  • 45% of women who inherit a harmful BRCA2 mutation will suffer cancer at 70 years old.

In ovarian cancer it is estimated that:

  • About 1.3% of women in the general population suffer from ovarian cancer sometime in their life.
  • 39% of women who inherit harmful BRCA1 mutation suffer from cancer at 70 years old.
  • 17% of women who inherit a mutated BRCA2 suffer harmful cancer at 70 years old.

2. Who is prone to HBOC?

There are different clinical criteria indicative of HBOC, which by its complexity, should be analyzed by a genetic counselor or specialist. To summarize, the most important criteria are listed below:

  • An individual in a family with cases of deleterious mutation in BRCA1 / BRCA2.
  • One case of breast cancer in a woman aged 45 or less.
  • Diagnosis of breast and ovarian cancer in the same patient.
  • Two cases of breast cancer in the same person, one of which is bilateral or a woman under 50 years of age.
  • One case of breast cancer in women under age 50 bilateral, and one case of ovarian cancer of first or second grade.
  • Three cases of breast and ovarian cancer (at least 1 case of ovarian) of first or second grade.
  • Two cases of ovarian cancer of first or second grade.
  • A case of male breast cancer and at least one first- or second-degree relative with breast and ovarian cancer.
  • Having Ashkenazi Jewish descent.

Analyzing these it is important to consider the paternal side of the family because this is just as significant as the maternal side in determining the personal risk of developing breast cancer.

3. How to proceed if you suspect you have a family HBOC?

First, confirm if the family is at risk, for which the doctor makes a genetic history (family tree) where data on three generations (grandparents, parents, children) are obtained. In the genetic history data is collected on each individual of the family, if they lived or died, what illnesses they have or have had, age of onset of the disease, number of children, etc. These allow to estimate a figure of risk that is used by the genetic counselor to identify wha molecular study is suitable to be performed on each family member.

If the family is considered moderate or high risk, it is now possible to get genetic studies to identify which people in the family have inherited the mutated gene, BRCA1 and BRCA2 being the most currently studied. This allows you to take preventive measures in individuals carrying a mutation, while in those where the family mutation is not found, it will not be necessary to perform special preventive measures since, despite belonging to a family of high risk, if they have not inherited the mutated gene, their situation will be the same as the others. In general, the genes responsible for cancer, BRCA1 and BRCA2, pass on to 50% of the children of a person affected, which only half of the genetic testing would be required for a risk family.

We recommend that you contact your referring physician for a definite diagnosis, or you can consult our team of genetic counseling.

Familial Adenomatous Polyposis (FAP) syndrome

eh-colorrectalThe familial adenomatous polyposis (FAP) syndrome is a hereditary predisposition to colon cancer in which hundreds to thousands of precancerous colon polyps (called adenomas) appear along the digestive tract (mainly in the colon and rectum, but also in the stomach and small intestine). The attenuated FAP (AFAP) is a milder form of FAP which carries a higher risk of colon cancer, but presents with fewer colon polyps.

Classic FAP is inherited in an autosomal dominant manner and is a result of a change (mutation) in the germline in the APC gene (5q21-q22) a gene encoding a protein that plays an important role in tumor suppression. In a subset of individuals, one MUTYH (1p34.1) causes a polyposis recessive mutation, familial adenomatous polyposis linked to MUTYH, characterized by a slightly increased risk of developing colorectal carcinoma (RCC) and the presence of polyps / adenomas in the upper and lower gastrointestinal tract.

The appearance of FAP usually arises as early as 20 years of age; at age 40, almost all people with this disorder will have colon cancer. Therefore, whenever possible, the clinical diagnosis of FAP must be confirmed by a genetic study of the APC gene. If a harmful mutation is identified, the study, all first-degree blood relatives so as to prevent the disease should be performed.

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
APC Routine Diagnostic Mutations S. Sanger PafAPCsa
MYH Routine Diagnostic Mutations S. Sanger PafMYHsa

*Sanger: Sanger Sequencing

1. What do the statistics on the PAF indicate?

  • FAP has a birth incidence of 1 / 8,300, affects both sexes equally, and represents less than 1% of cases of colorectal cancer.
  • Even though it is a disease that is inherited, in 20-30% of cases there is no history in the family given by mutations occurring “de novo” in the APC gene.
  • The mutated gene is possible to detect in more than 80% of those affected. If we can identify the mutation in an affected member we can then examine the rest of the family to determine who are the carriers.

 

2. Who are prone to FAP?

The clinical diagnosis of FAP is generally determined when the individual has more than 100 polyps early age; however, identifying germline mutations in APC confirms the diagnosis. The risk of these people developing colorectal cancer during their lives is almost 100%. People who tested positive for genetic change associated with FAP should start getting colonoscopies during adolescence. Most doctors recommend to undergo surgery between 20 and 29 years of age to prevent cancer formation.

 

3. How to proceed if you suspect your family has FAP?

As a hereditary disease every child of a affected parent has a 50% risk of inheriting the genetic alteration and developing the disease, which is why it is very important to mention all the family members at risk (first degree of affected person: parents, children and siblings) because early diagnosis will prevent colorectal cancer, if the disease is diagnosed at an early stage.

It is suggested that detection of mutations in the APC gene is carried out in the person affected by the disease (with a clinical diagnosis of polyposis); if such alteration is found it may then affect all first-degree relatives.

We recommend that you contact your referring physician for a definite diagnosis, or you can consult our team of genetic counseling.

Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (HNPCC)

eh-colorrectalLynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by the occurrence of colorectal cancer or other tumors outside the colon. In most cases, this disorder is caused by a defect in the gene MLH1 or MSH2 gene, but other genes can cause this disease, including MSH6 and PMS2. These genes, in their normal state, play a very important role correcting the errors that occur spontaneously in the DNA during cell division.

An individual carrying a mutation in one of these genes has a 30-70% cumulative risk of developing colorectal cancer (CRC), 30-60% for endometrial cancer, 10-15% for tumors of the ovary or stomach, and higher risk than the general population for urinary tract tumors, small intestine, bile duct, brain (glioblastoma), pancreas and skin tumors (keratoacanthomas, sebaceous adenomas or adenocarcinomas of the skin).

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
MLH1 Routine Diagnostic Deficient expression IHQ LynL1ih
MSH6 Routine
Diagnostic Deficient expression IHQ LyS6ih
MSH2 Routine Diagnostic Deficient expression IHQ LynS2ih
PMS2 Routine Diagnostic Deficient expression IHQ LynPM2ih
Microsatellite instability Recomended Diagnostic Microsatellite alterations Genotypification LunMSIgn
Mutations MSH2 Recomended Diagnostic Mutations S. Sanger LynS2sa
Mutations MLH1 Recomended Diagnostic Mutations S. Sanger LynL1sa
Mutations MSH6 Recomended Diagnostic Mutations S. Sanger LynS6sa
Mutations PMS2 Recomended Diagnostic Mutations S. Sanger LynPM2sa

*Sanger: Sanger Sequencing – IHC: Immunohistochemistry

1. What do the statistics Lynch Syndrome indicate?

▪ it is the most common hereditary colorectal cancer representing up to 5% of all cases.
▪ The penetrance (percentage of individuals having a genetic predisposition to develop the disease) is high and varies for both sexes and for different organs. Penetrance in males for colorectal cancer exceeds 80%, whereas in women the percentage is lower.
▪ From the molecular point of view, 67% of cases have microsatellite instability (MSI), with frequent loss of expression of MLH1 and MSH2 proteins.

2. Who are likely to have Lynch syndrome?

According to the criteria I and II of Amsterdam (2015), people who are considered high risk are those who have at least 3 relatives diagnosed with CRC or a cancer related to Lynch syndrome (endometrial cancer, colorectal, uterus, kidney-pelvic or small intestine), and the following items must be met:

  • One of the relatives must be first degree from the other two
  • At least two successive generations are affected.
  • At least one relative was diagnosed before age 50.
  • The possibility of developing FAP is excluded.
  • Tumor pathology was verified.

A second group of criteria, called Revised Bethesda Guidelines, can be used to determine if a person with CRC must be tested to detect whether the cancer has genetic changes. If MSI is detected, the doctor will recommend that the patient is tested for a genetic mutation associated with HNPCC. Diagnosis of the disease can be confirmed by the molecular study of the MLH1, MSH2, MSH6 or PMS2 genes.

3. How to proceed if a family is suspected to have Lynch syndrome?

HNPCC, being a hereditary disease, each child of an affected parent has a 50% risk of inheriting the genetic alteration and developing the disease, which is why it is very important to mention all the family members at risk (family first degree of an affected person: parents, children and siblings) because early diagnosis will allow us to avoid colorectal cancer, if the disease is diagnosed early.

We recommend that you contact your referring physician for a definite diagnosis, or you can consult our team of genetic counseling.

Hereditary Diffuse Gastric Cancer

eh-gastrointestinalThe hereditary diffuse gastric cancer is a cancer that affects the lining of the stomach causing a thickening, but without forming tumors that distinguish it. This cancer is also known as Signet ring cell carcinoma (this is because of the way the tumor cells are observed when viewed under a microscope) or carcinoma of slightly cohesive cells (indicating that tumor cells are distributed in small areas or patches). It usually appears between 14 and 69 years old, 38 years being the average age of onset.

This disease is associated with changes or mutations caused by a gene called E-cadherin or CDH1. The CDH1 gene has information on how to produce a number of substances that have different activities and allow the normal functioning of cells to participate in the growth, mobility and structural part. A change or mutation in the CDH1 gene increases the chances that a person will develop gastric cancer, but also increases the chances of developing other cancers such as breast and colorectal.

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
CDH1 Recomended Diagnostic Mutations S. Sanger GdCDH1sa

*S. Sanger: Sanger Sequencing

1. What do the statistics on the diffuse gastric cancer indicate?

  • Gastric carcinoma is among the five leading causes of cancer death in South American countries like Argentina, Chile, Paraguay and Uruguay.
  • In Argentina the average overall mortality is 11.9 deaths in men and 4.9 deaths in women per 100,000 people, by this disease.

2. Who are prone to diffuse gastric cancer?

The diagnosis of hereditary diffuse gastric cancer is performed based on the combination of the findings in the medical history of the patient and family, according to the following criteria:

  • At least 2 cases of stomach cancer in the family, one of them diffuse gastric cancer diagnosed before age 50.
  • At least 3 cases of stomach cancer in the family at any age, one being diffuse gastric cancer.
  • A person diagnosed with diffuse gastric cancer before 45 years of age.
  • A person diagnosed with diffuse gastric cancer and another family member diagnosed with lobular breast cancer.
  • A person diagnosed with diffuse gastric cancer and another family member diagnosed with colon adenocarcinoma with signet ring cells.

3. How to proceed if a family is suspected to be suffering from diffuse gastric cancer?

The genetic study of CDH1 gene is recommended. It is important that the genetic study is done with a genetic counseler who can interpret the results according to the characteristics of the patient and family factors. If the person has abnormal gene CHD1 and family risk factors, they should consider detailed and frequent endoscopic exams every 6 to 12 months; and in more extreme cases, prophylactic or preventive resection of the stomach.

We recommend that you contact your referring physician for a definite diagnosis, or you can consult our team of genetic counseling.

Cowden Syndrome (CS)

eh-tiroideCowden syndrome (CS), also known as the “multiple hamartomas syndrome” is a genetic disease characterized by the growth of hamartomas and the increased risk of developing certain forms of cancer. It is associated with mutations of loss of function, in a tumor suppressor gene called PTEN, located on chromosome 10. The transmission is autosomal dominant. Patients presenting with alterations in this gene have a 25-50% risk of developing breast cancer 10% risk for thyroid cancer and 10% risk for endometrial cancer.

It has been observed that patients with CS where PTEN is unaffected, have a methylation in the promoter KLLN (in 30% of cases) in the germline, germ variations in SDHB, SDHC or SDHD (in 10% of cases), or germline mutations in PIK3CA and AKT1 (in 10% of cases).

This syndrome is part of group called Multiple hamartomas syndromes Gene PTEN (PHTS) including at Bannayan-Riley-Ruvalcaba (BRRS), Proteus (PS) syndrome syndrome, Proteus syndrome-similar (PSs) .

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
PTEN Recomended Diagnostic Germinal Mutations S. Sanger GdCDH1sa

*S. Sanger: Sanger Sequencing

1. What do the statistics on Cowden Syndrome indicate?

  • It is estimated that the incidence of Cowden syndrome is 1 / 200,000.
  • It is a disease that affects ranges from 4 years old to 75 years old with an average of 39 years.
  • It involves both sexes with a small female predominance of 0.6.
  • 80% of patients found germline mutations in PTEN.

 

2. Who are prone to Cowden syndrome?

The diagnosis of Cowden syndrome appears to be a challenge due to its variable clinical presentation. The International Consortium for Cowden syndrome (ICC) establishes the pathognomonic criteria (mucocutaneous lesions, LDD major criteria (breast cancer, macrocephaly, thyroid cancer and endometrial cancer) and other minor criteria used to diagnose the disease. It takes a operational diagnosis if the patient has pathognomonic skin lesions, two or more major criteria, one major criteria and three or more minor criteria, or four or more minor criteria. Currently there has been scoring system created for adults and a system of independent pediatric criteria.

 

3. How to proceed if a family is suspected have Cowden syndrome?

Germline mutations in PTEN or other causative genes confirms the diagnosis. Knowing these mutations can help other family members to prevent the disease.

We recommend that you contact your referring physician for a definite diagnosis, or you can consult our team of genetic counseling.

Alzheimer’s Disease (FAD)

eh-alzheimerAlzheimer’s disease is a form of dementia that affects memory, thinking and behavior. Hereditary Alzheimer’s disease (FAD, for its acronym in English) is a rare form of the disease that affects less than 10% of patients with Alzheimer’s disease. FAD develops before age 65, and in people as young as 35. These patients may carry a mutation in one of these three causative genes:

  • The gene for the precursor protein of amyloid β peptide (APP)
  • The gene presenilin 1 (PSEN1)
  • Presenilina2 gene (PSEN2)

Most cases of Alzheimer’s disease are late-onset, usually developing after age 65. Alzheimer’s disease late onset has no known cause and shows no obvious pattern of inheritance. However, in some families, clusters of cases are seen. Although a particular gene has not been identified as the cause of late onset Alzheimer’s disease, genetic factors appear to play a role in the development of this form of the disease. The ApoE gene on chromosome 19 has three forms of ApoE2, ApoE3 and ApoE4. Studies have shown that people who inherit the E4 version of the gene are more likely to develop Alzheimer’s disease late onset. Scientists estimate that in addition, another four to seven genes influence the risk of developing Alzheimer’s disease late onset. Two of these genes are UBQLN1 and SORL1, found on chromosomes 9 and 11.

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
APOE e2 Recomended Diagnostic Polymorphisms qPCR AzAE2qp
APOE e3 Recomended Diagnostic Polymorphisms qPCR AzAE3qp
APOE e4 Recomended Diagnostic Polymorphisms qPCR AzAE4qp
Amyloid precursor protein (APP), preseniline-1 (PS1) and preseniline-2 (PS-2) Recomended Diagnostic Mutationss S. Sanger AzAPSsa

*S. Sanger: Sanger Sequencing – qPCR: Real Time PCR

1. What do the statistics on Alzheimer’s indicate?

  • Alzheimer’s disease affects around 400,000 people in Argentina according to the Institute of Neurosciences Buenos Aires (INEBA)
  • Only 1% of the dementia type Alzheimer’s is hereditary.

 

2. Who are likely to have Alzheimer’s?

The diagnosis should be counted with more than one affected family member (usually 3 or more relatives) and for a definitive diagnosis, there should be a pathological confirmation (analysis of brain tissue after autopsy).

 

3. How to proceed if a family is suspected to be suffering from Alzheimer’s?

The decision to conduct a genetic study in an asymptomatic person should be done following a protocol of genetic counseling. Therefore, we recommend that you contact your referring doctor for a definite diagnosis, or you can consult our team of genetic counseling.

Li-Fraumeni syndrome (LFS)

eh-lifraumeniThe Li-Fraumeni syndrome (LFS) is a rare syndrome, which is inherited as an autosomal dominant trait with incomplete penetrance. It is a clinically and genetically heterogeneous disease. It is characterized by the early onset of multiple tumors in an individual, and several members of his family.

There are two forms: the Li-Fraumeni syndrome and Li-Fraumeni classic Like (LFL). People with LF are at increased risk of developing multiple primary cancers. Approximately 70% of cases of LF and 40% of cases of LFL are carriers of germline mutations in the TP53 gene on chromosome 17p13.1, tumor suppressor gene known as the “guardian of the genome” for its function. This syndrome can also be caused by mutations in a gene called CHEK2.

In mutation carriers it is estimated that the risk of developing cancer at age 30 is 50% and 60 years is 90%. However, male carriers of a germline mutation may have a lower risk than women. People with Li-Fraumeni syndrome can also be affected by more than one cancer in their lifetime.

Panel Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
Panel Tp53 Recomended Diagnostic Tp53 NGS PtPTP53ng

*Next-Generation Sequencing

1. ¿Qué indican las estadísticas sobre el cáncer el Síndrome de Li-Fraumeni?

  • Aproximadamente un 70% de familias con LF presentan mutaciones detectables en células germinales en el gen TP53.
  • Se transmite con un modo de herencia autosómico recesivo con una penetrancia del 85% a los 50 años.

 

2. ¿Quiénes son propensos a padecer Síndrome de Li-Fraumeni?

Son necesarios 3 casos en la familia:

  • Un sarcoma diagnosticado antes de los 45 años
  • Un familiar de primer grado con cualquier cáncer antes de los 45 años
  • Un familiar de primer o segundo grado con cáncer antes de los 45 años o sarcoma a cualquier edad.

3. ¿Cómo proceder si se sospecha que una familia padece Síndrome de Li-Fraumeni?

El consejo genético es difícil, debido al amplio espectro de tumores y su aparición a cualquier edad, especialmente durante la infancia. Ninguna medida de vigilancia puede considerarse efectiva a excepción de aquellas encaminadas a los cánceres de mama en mujeres con edades superiores a 20 años.

Le recomendamos que contacte a su médico de referencia para obtener un diagnóstico seguro, o puede consultar a nuestro equipo de asesoría genética.

Endocrine neoplasia type 1 (MEN1)

eh-neaplastiaIt is an inherited disease in which one or more of the endocrine glands are overactive or form a tumor. Endocrine glands most commonly involved include: Pancreas, parathyroid and pituitary. Currently, there are two different MEN syndromes, MEN1 and MEN2. In some respects, the two syndromes are similar, but there are important differences.

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome. The penetrance is extremely high and the frequency is the same for both sexes. The prevalence is about 1 in 30,000 people. MEN1 syndrome is caused by the presence of mutations that inactivate tumor suppressor gene MEN1.

The syndrome of multiple endocrine neoplasia type 2 (MEN2) is characterized by a very high risk of medullary thyroid cancer (MTC). MEN2 patients have a probability greater than 95% of manifesting a CMT throughout life. The MEN2 is divided into three clinical subtypes:

  • The MEN2A is characterized by the presence of CMT at the beginning of adulthood, pheochromocytoma and hyperparathyroidism. About 50% of people with MEN2A will present a pheochromocytoma and 20% -30%, hyperparathyroidism.
  • The MEN2B is characterized by CMT in infancy and pheochromocytomas (often 50%). Hyperparathyroidism is almost never seen in people with MEN2B. MEN2B patients often exhibit other physical characteristics, such as being tall and thin, have small (non-malignant) tumors on the lips and tongue and have a disease that thickens and irritates the large intestine.
  • Medullary thyroid carcinoma familiar (FMTC) is a medullary thyroid cancer that affects several members of the same family without the presence of pheochromocytoma and hyperparathyroidism.

The MEN2 is caused by mutations in the RET gene which make the affected cells divide uncontrollably, leading to tumor formation. Specific RET mutations are associated with the subtypes of MEN2, the aggressiveness of CMT and the presence of other endocrine tumors. Genetic testing can identify mutations of RET in approximately 95% of people with clinical symptoms of MEN2A and MEN2B and about 88% of families with FMTC. Each child of a parent with MEN2 have a 50% chance of developing the disease.

MEN2 prognosis depends upon the stage where the CMT is diagnosed and quality of initial surgical treatment. Early diagnosis increases life expectancy.

 

Biomaker Evidence Type Molecular Alteration
Analysis Methodology*
Test ID
RET Recomended Diagnostic Polymorphisms S. Sanger AzAE2qp

*S. Sanger: Sanger Sequencing

1. What do the statistics on MEN indicate?

The total prevalence of all variants of MEN2 is about 1 / 35,000. Of the three subtypes of MEN2, the MEN2A corresponds to 70-80%, medullary thyroid carcinoma family (FMTC) 10-20% and MEN2B 5% of all cases.

2. Who are prone to MEN?

The manifestations of MEN2 are related syndrome subtypes and depend on the specific mutation in the RET gene. MEN2 can occur at any age; Symptoms may appear throughout childhood (MEN2B) or in adulthood (MEN2A and FMTC). CMT is observed in all forms of MEN2, and is usually the first manifestation of the disease emerging in the side lobes of the thyroid gland.

3. How to proceed if a family is suspected to have MEN?

The genetic analysis of blood samples can confirm a diagnosis of MEN2 in individual patients and identify family members at risk of developing the disease. Depending on the specific RET mutation, it is possible to predict the intensity and progression of the disease to some extent, and along with it, take the prevention measures required.

A genetic counselor will explain and answer any questions you have and help you make an informed decision. Therefore, we recommend that you contact your referring doctor for a definite diagnosis, or you can consult our team of genetic counseling.

This section presents a classification of molecular studies currently available. This website information has been supervised by our BIOMAKERS specialists’ team. The recommendations present here do not aim to substitute the guidelines of medical societies or the oncological treatment guidelines currently available.

Consulted Sources:

National Institute of Cancer
Center for Control and Prevention of Diseases
PUBMED
American Cancer Society
My Cancer Genome
Spanish Society of Medical Oncology
NCCN Guidelines Versión 2.2015

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