SCIENTIFIC BACKGROUND

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

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Scientific Background

PreSENTIA hereditary Breast/Gynecological cancer panel tests for numerous germline mutations that could cause Breast, Ovarian or Endometrial 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?

According to genetic testing guidelines, people who might benefit from genetic testing for breast/gynaecological cancers are those that have:

• Several family members in the same side of the family with cancer

• Family members with early cancer onset

• Family members with rare cancer types

• A family member with multiple cancers

• A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

• Personal history of previous malignancies

 

How many genes are tested in this panel?

26 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

• Ataxia-telangiectasia syndrome (ATM)

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

• DICER 1 syndrome (DICER1)

• Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)

• Hereditary diffuse gastric syndrome (CDH1)

• Li-Fraumeni syndrome (TP53)

• Li-Fraumeni syndrome 2 (CHEK2)

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

• MUTYH-associated polyposis syndrome (MUTYH)

• Peutz-Jeghers syndrome (STK11)

• Polymerase proofreading associated syndrome (POLD1, POLE)

• PTEN hamartoma syndrome (PTEN)

 

The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

BARD1, BRIP, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, SMARCA4

GENES
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
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