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

PreSENTIA hereditary Pan-cancer panel tests for numerous germline mutations that could cause several hereditary 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 hereditary cancers are those that have:

  • • Several family members in the same side of the family with cancer
  • • Multiple cancers in the same family member
  • • Family members with early cancer onset
  • • Family members with rare cancer types
  • • Family members with an unusual type of cancer (breast cancer in a male)
  • • Personal or family history of a hereditary cancer syndrome
  • • 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?

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)
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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