SCIENTIFIC BACKGROUND

BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

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Scientific Background

Hereditary breast/gynecological guidelines-based panel tests for germline mutations that can cause a collection of different cancers, such as breast cancer and cancers that start in the woman’s reproductive organs such as cervical, ovarian, and uterine. Hereditary breast and specific types of gynecological cancers are considered some of the most common inherited types of cancer. Mutations on the genes tested in this panel have been identified to increase the risk of developing cancer in the future.

 

PreSENTIA hereditary Breast High-Risk cancer panel tests for numerous germline mutations that could cause Breast, Ovarian, Endometrial or associated 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 personal history of breast/gynecological cancers including ovarian, fallopian tube, and primary peritoneal cancer among others

You have been diagnosed with a breast/gynecological cancer before the age of 50

You have a family history of a breast/gynecological cancer

You belong in specific ancestry groups who are high risk for developing breast/gynecological cancers (e.g Ashkenazi Jewish)

You have a male relative diagnosed with breast cancer

 

How many genes are tested in this panel?

7 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

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

• Hereditary diffuse gastric syndrome (CDH1)

• Li-Fraumeni syndrome (TP53)

• Peutz-Jeghers syndrome (STK11)

• 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:

PALB2

 

References and more information: 

All the above information was taken from ASCO, Centers for Disease Control and Prevention and NCCN

 

 

GENES

BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
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