SCIENTIFIC BACKGROUND

ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53

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Scientific Background

Myelodysplastic syndrome is a type of blood cancer in which blood cells in the bone marrow do not mature and cannot develop into healthy blood cells. These cells have an abnormal size, shape and phenotype. Myelodysplastic syndrome can lead to the development of acute myeloid leukemia (AML) in which the immature, abnormal cells build up in the bone marrow and the body cannot produce cells such as red blood cells, white blood cells and platelets. People who have inherited Myelodysplastic syndrome have increased risk of developing leukemia in the future, which is the 15th most common type of cancer worldwide.

 

PreSENTIA hereditary Myelodysplastic syndrome/Leukemia cancer panel tests for numerous germline mutations that could cause blood cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

 

Who is this test for?

You should get tested if you meet at least one of the criteria below:

You have a family history of a hereditary cancer syndrome associated with leukemia

You have a personal history of a hereditary cancer syndrome associated with leukemia

You have an identical twin who developed leukemia in the first year of life

You have a family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

24 genes

 

How many hereditary cancer syndromes are associated with this panel?

6 Hereditary cancer syndromes are associated with this panel. These are:

Ataxia-telangiectasia syndrome (ATM)

• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)

Fanconi anemia syndrome (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C)

Hereditary breast & ovarian syndrome (BRCA1 & BRCA2)

• Li-Fraumeni syndrome (TP53)

• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

 

References and more information: 

The above information was taken by professional bodies such as NCCN, American Cancer society and National Cancer Institute

Sekeres MA, Taylor J. Diagnosis and Treatment of Myelodysplastic Syndromes: A Review. JAMA. 2022 Sep 6;328(9):872-880. doi: 10.1001/jama.2022.14578. PMID: 36066514.

Bispo JAB, Pinheiro PS, Kobetz EK. Epidemiology and Etiology of Leukemia and Lymphoma. Cold Spring Harb Perspect Med. 2020 Jun 1;10(6):a034819. doi: 10.1101/cshperspect.a034819. PMID: 31727680; PMCID: PMC7263093.

GENES

ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53
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