SCIENTIFIC BACKGROUND

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), CHEK2, DDB2, DICER1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GREM1, HOXB13, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, POLH, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, STK11, TP53, VHL, XPA, XPC

Category:

Scientific Background

The PreSENTIA hereditary Pan-Cancer panel is a comprehensive test that includes screening of germline mutations in 62 genes. Mutations in the genes tested have been linked to cancer development. The Pan-Cancer panel also screens for germline mutations associated with 24 different predisposing cancer syndromes. 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 or family history of a hereditary cancer syndrome

• You have been diagnosed with a type of cancer before the age of 50

You have several family members on the same side of the family with cancer

• You have family members with early cancer onset

You have family members with rare cancer types

You have family members with an unusual type of cancer (breast cancer in a male)

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

You have history of previous malignancies

You belong in specific ancestry groups who have high risk for developing specific types of cancer (e.g Ashkenazi Jewish who have high risk developing breast or prostate cancer)

 

How many genes are tested in this panel?

62 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

Ataxia-telangiectasia syndrome (ATM)

BAP1 mutation associated disease (BAP1)

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

DICER 1 syndrome (DICER1)

Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)

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

Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)

Hereditary diffuse gastric syndrome (CDH1)

Hereditary mixed polyposis syndrome (GREM1)

Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)

Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)

Juvenile polyposis syndrome (SMAD4, BMPR1A)

Li-Fraumeni syndrome (TP53)

Li-Fraumeni syndrome 2 (CHEK2)

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

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 2 (RET)

MUTYH-associated polyposis syndrome (MUTYH)

Peutz-Jeghers syndrome (STK11)

Polymerase proofreading associated syndrome (POLD1, POLE)

PTEN hamartoma syndrome (PTEN)

Retinoblastoma (RB1)

Von-Hippel Lindau syndrome (VHL)

Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)

 

References and more information: 

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

GENES

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), CHEK2, DDB2, DICER1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GREM1, HOXB13, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, POLH, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, STK11, TP53, VHL, XPA, XPC
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