Hereditary cancer accounts for nearly 5-10% of all cancers. With early detection through appropriate screening methods and prophylactic measures, the chances of prevention and successful treatment are higher.
The integration of cancer genetics in clinical practice enables physicians to distinguish a proportion of patients that have inherited mutations with increased risk susceptibility to certain cancers. The identification of such germline mutations allows for targeted cancer surveillance and prevention.
PreSENTIA, with an extensive portfolio of 19 hereditary cancer panels, tests for numerous inherited genetic mutations that could cause cancer in the future.
WHAT IS PreSENTIA?
PreSENTIA consists of an extensive portfolio of 19 hereditary cancer panels. The genes selected have been shown to predispose to certain hereditary cancer syndromes (cancer predisposition syndromes), and hereditary cancers.
The patients’ medical family history, their ethnicity, and any physical findings present linked to cancer should always be taken into consideration.
PreSENTIA offers 18 cancer-specific gene panels, and 1 hereditary pan-cancer panel that covers 62 genes and 24 cancer predisposing syndromes associated with hereditary cancer.
PreSENTIA is a new generation test for identifying genetic mutations with cancer susceptibility. It has an extensive portfolio of 19 hereditary cancer panels. Each panel focuses on a specific set of genes that have high susceptibility to cancer predisposing syndromes, that in turn have increased risk of causing cancer.
BENEFITS OF PreSENTIA INCLUDE:
- Clinically actionable mutations
- Proven technology
- Easy-to-interpret results
- Short turn-around time
The same mutation can cause cancer earlier in some family members than others, or not develop into cancer at all.
WHO IS THIS TEST FOR?
According to genetic testing guidelines* for cancer, people who might benefit from genetic testing are those that have:
- Family members with cancer in the same side of the family
- Multiple cancers in the same family member
- Family members with early cancer onset
- Family members with rare cancer types
- A family member that has been diagnosed with a genetic mutation that has cancer susceptibility
- Personal or family history of a hereditary cancer syndrome
The patients’ medical family history, their ethnicity, and any physical findings present linked to cancer should always be taken into consideration.
Additionally, patients already diagnosed with cancer can take PreSENTIA if their family history is suggestive of an inherited genetic change running in their family. PreSENTIA can let them know if their cancer is hereditary, which will help to:
- Improve disease classification
- Inform other family members of their risk
- Enhance clinical management
* Data adapted from: American Cancer Society, National Cancer Institute, American Society of Clinical Oncology and American College of Obstetricians and Gynecologists.
UNIQUE FEATURES
TARGETED TECHNOLOGY
PreSENTIA is based on a novel, target capture enrichment technology that has been validated for its accuracy and precision.
HIGH READ DEPTH
Specifically-designed genetic and bioinformatics methods have been incorporated to ensure high read-depths, raising the sensitivity and specificity of the test.
MULTI-ENGINE ANALYSIS
Proprietary bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of PreSENTIA
WHY RECOMMEND PreSENTIA TO MY PATIENTS?
Identifying the genetic mutations that could cause cancer in the future is useful for people with cancer in their family history, and for people suspected of having a hereditary form of cancer. This knowledge can help with better medical planning and avoiding risk factors.
WHAT ARE THE BENEFITS FOR MY PATIENTS?
- Ability to select a panel that is most suited to them
- Targeted cancer monitoring to detect cancer early, when treatment is more beneficial
- Prevention of cancer by prophylactic measures
- Invaluable information for family members that might carry the same mutation
- Improved clinical care
HOW DOES PreSENTIA HELP ME?
PreSENTIA gives you helpful insight into the genetic makeup of your patient in an efficient, rapid and comprehensive way.
Receiving information about your patient's risk of developing cancer early allows you to look into the most appropriate prophylactic measures and therapy options.
You can develop a better clinical management plan for your patient and any of their family members who might also be affected.
WHAT CAN I DO TO HELP MY PATIENTS AFTER TAKING PreSENTIA?
- Recommend screening tests at key interval timepoints for early cancer detection
- Recommend prophylactic measures
- Recommend testing for immediate family members who might be at risk
WHAT DOES IT TEST FOR?
HEREDITARY CANCER PANELS
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BREAST & GYNECOLOGICAL
26
HEREDITARY BREAST/GYNECOLOGICAL CANCER PANEL
Description
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
No of Genes Tested
26
No of related hereditary cancer syndromes
12
Genes Tested
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
Disorders associated with this panel:
- 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
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BREAST / GYN GUIDELINES - BASED
19
HEREDITARY BREAST/GYNECOLOGICAL GUIDELINES-BASED CANCER PANEL
Description
Hereditary Breast/Gynecological cancer guidelines-based 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?
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
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
19
No of related hereditary cancer syndromes
9
Genes Tested
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, STK11
Disorders associated with this panel:
- Ataxia telangiectasia syndrome (ATM)
- Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- 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)
- 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:
BARD1, BRIP, NBN, PALB2, RAD51C, RAD51D
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BREAST
HIGH-RISK7
HEREDITARY BREAST HIGH-RISK CANCER PANEL
Description
Hereditary Breast High-Risk cancer panel tests for numerous germline mutations that are associated with a high risk for developing 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?
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
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
7
No of related hereditary cancer syndromes
5
Genes Tested
BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
Disorders associated with this panel:
- Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
- Hereditary diffuse gastric syndrome (CDH1)
- Li-Fraumeni syndrome (TP53)
- Peutz-Jeughers 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
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BRCA1 / BRCA2
2
HEREDITARY BRCA1 / BRCA2 CANCER PANEL
Description
Hereditary BRCA1/BRCA2 cancer panel tests for germline mutations in the BRCA1 and BRCA2 genes that could cause specific 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 caused by mutations in the BRCA1/BRCA2 genes are those that have:
- Several family members with cancer in the same side of the family
- Multiple cancers in the same family member
- Family members with early cancer onset
- Family members with rare cancer types
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
2
No of related hereditary cancer syndromes
1
Genes Tested
BRCA1, BRCA2
Disorders associated with this panel:
- Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
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COLORECTAL
17
HEREDITARY COLORECTAL CANCER PANEL
Description
Hereditary Colorectal cancer panel tests for numerous germline mutations that could cause colorectal 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:
- At least 1 first-degree family member with colorectal cancer
- Personal or family history of colorectal polyps or colorectal cancer
- Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
- Family members diagnosed with cancer at a young age
- Family members diagnosed with rare forms of cancer
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- Personal history of previous malignancies
No of Genes Tested
17
No of related hereditary cancer syndromes
12
Genes Tested
APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Disorders associated with this panel:
- Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
- Li-Fraumeni syndrome (TP53)
- Li-Fraumeni syndrome 2 (CHEK2)
- PTEN Hamartoma syndrome (PTEN)
- Peutz-Jeghers syndrome (STK11)
- Hereditary diffuse gastric syndrome (CDH1)
- MUTYH-associated polyposis syndrome (MUTYH)
- Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
- Polymerase Proofreading Associated syndrome (POLD1, POLE)
- Hereditary mixed polyposis syndrome (GREM1)
- Juvenile Polyposis syndrome (SMAD4, BMPR1A)
- Constitutional Mismatch Repair syndrome (MSH2, MSH6, MLH1, PMS2)
-
COLORECTAL
HIGH-RISK10
HEREDITARY COLORECTAL HIGH-RISK CANCER PANEL
Description
Hereditary Colorectal High-Risk cancer panel tests for numerous germline mutations that could cause colorectal 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 colorectal cancers are those that have:
- At least 1 first-degree family member with colorectal cancer
- Personal or family history of colorectal polyps or colorectal cancer
- Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
- Family members diagnosed with cancer at a young age
- Family members diagnosed with rare forms of cancer
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
10
No of related hereditary cancer syndromes
6
Genes Tested
APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4, STK11
Disorders associated with this panel:
- Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
- Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
- Juvenile polyposis syndrome (SMAD4, BMPR1A)
- Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- MUTYH-associated polyposis syndrome (MUTYH)
- Peutz-Jeghers syndrome (STK11)
-
COLORECTAL
NON-POLYPOSIS5
HEREDITARY COLORECTAL NON-POLYPOSIS CANCER PANEL
Description
Hereditary Colorectal Non-Polyposis cancer panel tests for numerous germline mutations that could cause colorectal 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 colorectal cancers are those that have:
- At least 1 first-degree family member with colorectal cancer
- Personal or family history of colorectal polyps or colorectal cancer
- Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
- Family members diagnosed with cancer at a young age
- Family members diagnosed with rare forms of cancer
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
5
No of related hereditary cancer syndromes
2
Genes Tested
EPCAM, MLH1, MSH2, MSH6, PMS2
Disorders associated with this panel:
- Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
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COLORECTAL POLYPOSIS SYNDROME
7
HEREDITARY COLORECTAL POLYPOSIS CANCER PANEL
Description
Hereditary Colorectal Polyposis cancer panel tests for numerous germline mutations that could cause colorectal 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 polyposis colorectal cancers are those that have:
- At least 1 first-degree family member with colorectal cancer
- Personal or family history of colorectal polyps or colorectal cancer
- Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
- Family members diagnosed with cancer at a young age
- Family members diagnosed with rare forms of cancer
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
7
No of related hereditary cancer syndromes
5
Genes Tested
APC, BMPR1A, MUTYH, POLD1, POLE, SMAD4,STK11
Disorders associated with this panel:
- Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
- Juvenile polyposis syndrome (SMAD4, BMPR1A)
- MUTYH-associated polyposis syndrome (MUTYH)
- Peutz-Jeghers syndrome (STK11)
- Polymerase proofreading associated syndrome (POLD1, POLE)
-
MYELODYSPLASTIC SYNDROME/LEUKEMIA
24
HEREDITARY MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL
Description
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?
According to genetic testing guidelines, people who might benefit from genetic testing for hereditary myelodysplastic syndromes or leukemias are those that have:
- Family history of a hereditary cancer syndrome associated with leukemia
- Personal history of a hereditary cancer syndrome associated with leukemia
- An identical twin who developed leukemia in the first year of life
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
24
No of related hereditary cancer syndromes
6
Genes Tested
ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53
Disorders associated with this panel:
- Ataxia-telangiectasia syndrome (ATM)
- Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, 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)
-
GASTRIC
14
HEREDITARY GASTRIC CANCER PANEL
Description
Hereditary Gastric cancer panel tests for numerous inherited germline mutations that could cause gastric (stomach) 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 gastric cancers are those that have:
- Several family members in the same side of the family with gastric cancer
- Personal or family history of a hereditary cancer syndrome linked to gastric cancer
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
14
No of related hereditary cancer syndromes
8
Genes Tested
APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53
Disorders associated with this panel:
- Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
- Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
- Hereditary diffuse gastric syndrome (CDH1)
- Hereditary Paraganglioma-Pheochromocytoma syndrome (SDHB, SDHC, SDHD)
- Juvenile Polyposis syndrome (SMAD4, BMPR1A)
- Li-Fraumeni syndrome (TP53)
- Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- Peutz-Jeghers syndrome (STK11)
-
PROSTATE
15
HEREDITARY PROSTATE CANCER PANEL
Description
Hereditary Prostate cancer panel tests for numerous germline mutations that could cause prostate 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 colorectal cancers are those that have:
- Several first-degree family members with prostate cancer
- Family members diagnosed with prostate cancer at young age
- Family members diagnosed with other cancer types, including breast, ovarian and pancreatic
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
15
No of related hereditary cancer syndromes
6
Genes Tested
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53
Disorders associated with this panel:
- Ataxia-telangiectasia syndrome (ATM)
- Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
- Li-Fraumeni syndrome (TP53)
- Li-Fraumeni syndrome 2 (CHEK2)
- Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
- 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:
HOXB13, NBN, PALB2, RAD51D
-
PANCREATIC
17
HEREDITARY PANCREATIC CANCER PANEL
Description
Hereditary Pancreatic cancer panel tests for numerous germline mutations that could cause pancreatic 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 pancreatic cancers are those that have:
- Several family members in the same side of the family with pancreatic cancer
- First-degree relative who developed pancreatic cancer before the age of 50
- Personal or family history of a hereditary cancer syndrome linked to pancreatic cancer
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
17
No of related hereditary cancer syndromes
10
Genes Tested
APC, ATM, BRCA1, BRCA2, BMPR1A, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53
Disorders associated with this panel:
- Ataxia-telangiectasia syndrome (ATM)
- Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
- Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
- Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)
- Juvenile polyposis syndrome (SMAD4, BMPR1A)
- Li-Fraumeni syndrome (TP53)
- Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- Multiple endocrine neoplasia type 1 (MEN1)
- Peutz-Jeghers syndrome (STK11)
-
RENAL
13
HEREDITARY RENAL CANCER PANEL
Description
Hereditary Renal cancer panel tests for numerous germline mutations that could cause renal (kidney) 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 renal cancers are those that have:
- Family members that have had renal cancer, especially at a young age
- Family members with renal cancer in both kidneys
- Family members diagnosed with a hereditary cancer syndrome associated with renal cancer
- Personal history of a hereditary cancer syndrome associated with renal cancer
- Multiple cancers in the same family member
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
- History of previous malignancies
No of Genes Tested
13
No of related hereditary cancer syndromes
7
Genes Tested
BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL
Disorders associated with this panel:
- BAP1 mutation associated disease (BAP1)
- Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHAF2, SDHB, SDHC, SDHD)
- Li-Fraumeni syndrome (TP53)
- Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
- PTEN hamartoma syndrome (PTEN)
- Von-Hippel Lindau syndrome (VHL)
-
SKIN (XP-ASSOCIATED)
9
HEREDITARY SKIN (XP-ASSOCIATED) CANCER PANEL
Description
Hereditary Xeroderma Pigmentosum-related cancer panel tests for numerous germline mutations that could cause skin 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 Xeroderma Pigmentosum-related skin cancers are those that have:
- Family or personal history of a hereditary cancer syndrome associated with skin cancers
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
9
No of related hereditary cancer syndromes
1
Genes Tested
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Disorders associated with this panel:
- Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)
-
FAMILIAL MELANOMA
7
HEREDITARY FAMILIAL MELANOMA CANCER PANEL
Description
Hereditary Familial Melanoma cancer panel tests for numerous germline mutations that could cause familial melanoma skin 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 melanoma cancers are those that have:
- At least two first-degree family member who have had metastatic melanoma
- At least one family member has had multiple melanomas
- Family or personal history of a hereditary cancer syndrome associated with melanoma
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
7
No of related hereditary cancer syndromes
5
Genes Tested
BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53
Disorders associated with this panel:
- BAP1 mutation associated disease (BAP1)
- Hereditary pancreatic-melanoma syndrome (CDKN2A, CDK4)
- Li-Fraumeni syndrome (TP53)
- PTEN hamartoma syndrome (PTEN)
- Retinoblastoma (RB1)
-
PARAGANGLIOMA / PHEOCHROMOCYTOMA
6
HEREDITARY PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL
Description
Hereditary Paraganglioma / Pheochromocytoma cancer panel tests for germline mutations in numerous genes that could cause Paraganglioma or Pheochromocytoma cancer 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 Paraganglioma or Pheochromocytoma cancers are those that have:
- Family or personal history of a hereditary cancer syndrome associated with paraganglioma / pheochromocytoma cancers
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
6
No of related hereditary cancer syndromes
3
Genes Tested
RET, SDHAF2, SDHB, SDHC, SDHD, VHL
Disorders associated with this panel:
- Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHAF2, SDHB, SDHD, SDHC)
- Multiple endocrine neoplasia type 2 (RET)
- Von-Hippel Lindau syndrome (VHL)
-
PARATHYROID
1
HEREDITARY PARATHYROID CANCER PANEL
Description
Hereditary Parathyroid cancer panel tests for germline mutations in the MEN1 gene that could cause parathyroid 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 parathyroid cancers are those that have:
- At least two first-degree family member who have had parathyroid tumors
- A personal or family history of a hereditary cancer syndrome associated with parathyroid cancer
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
1
No of related hereditary cancer syndromes
1
Genes Tested
MEN1
Disorders associated with this panel:
- Multiple endocrine neoplasia type 1 (MEN1)
-
THYROID
1
HEREDITARY THYROID CANCER PANEL
Description
Hereditary Thyroid cancer panel tests for germline mutations in the RET gene that could cause medullary thyroid cancer 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 parathyroid cancers are those that have:
- At least one first-degree family member who has had thyroid cancer
- A personal or family history of a hereditary cancer syndrome associated with thyroid cancer
- A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
No of Genes Tested
1
No of related hereditary cancer syndromes
1
Genes Tested
RET
Disorders associated with this panel:
- Multiple endocrine neoplasia type 2 (RET)
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PAN-CANCER
62
HEREDITARY PAN-CANCER PANEL
Description
Hereditary Pan-Cancer panel tests for numerous germline mutations in a total of 62 genes that could cause several 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
- History of previous malignancies
No of Genes Tested
62
No of related hereditary cancer syndromes
24
Genes Tested
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
Disorders associated with this panel:
- 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)
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, MRE11, RAD50, SMARCA4, HOXB13, NBN, RAD51D
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HEREDITARY CANCER SYNDROMES
AD= Autosomal Dominant, AR= Autosomal Recessive, XLR= X-Linked Recessive
Cancer Predisposing Syndromes & Associated Genes Associated Cancers PreSENTIA Hereditary Cancer Panel Li-Fraumeni syndrome (AD)
TP53Breast, Ovarian, Prostate, Pancreatic, Colorectal, Gastric, Renal, Sarcomas, Brain, Lung, Leukemia - 3 Breast / Gynecological Cancer Panels
- Colorectal Cancer Panel
- Gastric Cancer Panel
- Familial Melanoma Cancer Panel
- Myelodysplastic syndrome / Leukemia Cancer Panel
- Pancreatic Cancer Panel
- Prostate Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
Li-Fraumeni syndrome 2 (AD)
CHEK2Breast, Sarcoma, Brain - 2 Breast / Gynecological Cancer Panels
- Colorectal Cancer Panel
- Prostate Cancer Panel
- Pan-Cancer Panel
Hereditary breast and ovarian cancer syndrome (AD)
BRCA1, BRCA2Breast, Ovarian, Prostate, Pancreatic, Melanoma, Gastric, Esophagus - 4 Breast / Gynecological Cancer Panels
- Myelodysplastic syndrome / Leukemia Cancer Panel
- Pancreatic Cancer Panel
- Prostate Cancer Panel
- Pan-Cancer Panel
Familial adenomatous polyposis / Attenuated familial adenomatous polyposis syndrome (AD)
APCGastric, Pancreatic, Colorectal, Osteomas, Small Bowel - 3 Colorectal Cancer Panels
- Gastric Cancer Panel
- Pancreatic Cancer Panel
- Pan-Cancer Panel
MUTYH-associated polyposis syndrome (AR)
MUTYHColorectal - Breast / Gynecological Cancer Panel
- 3 Colorectal Cancer Panels
- Pan-Cancer Panel
Lynch syndrome (AD)
MLH1, MSH2, MSH6, PMS2, EPCAMColorectal, Endometrial, Gastric, Ovarian, Prostate, Pancreatic, Renal - 2 Breast / Gynecological Cancer Panels
- 3 Colorectal Cancer Panels
- Gastric Cancer Panel
- Myelodysplastic syndrome / Leukemia Cancer Panel
- Pancreatic Cancer Panel
- Prostate Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
PTEN hamartoma syndrome (AD)
PTENBreast, Endometrial, Colorectal, Melanoma, Renal - 3 Breast / Gynecological Cancer Panels
- Colorectal Cancer Panel
- Familial Melanoma Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
Peutz-Jeghers syndrome (AD)
STK11Breast, Ovarian, Endometrial, Colorectal, Gastric, Pancreatic - 3 Breast / Gynecological Cancer Panels
- 3 Colorectal Cancer Panels
- Gastric Cancer Panel
- Pancreatic Cancer Panel
- Pan-Cancer Panel
Juvenile polyposis syndrome (AD)
SMAD4, BMPR1AColorectal, Gastric, Pancreatic - 3 Colorectal Cancer Panel
- Gastric Cancer Panel
- Pancreatic Cancer Panel
- Pan-Cancer Panel
Fanconi anemia syndrome (AR or XLR)
FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51CLeukemia, Tumors of the head & neck, Gastrointestinal - Myelodysplastic syndrome / Leukemia Cancer Panel
- Pan-Cancer Panel
Von-Hippel Lindau syndrome (AD)
VHLRenal, Paragangliomas, Pheochromocytomas - Paraganglioma / Pheochromocytoma Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
Retinoblastoma (AD)
RB1Eye & bone - Familial Melanoma Cancer Panel
- Pan-Cancer Panel
Xeroderma Pigmentosum syndrome (AR)
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA,XPCNon-Melanoma & Melanoma - Skin (XP-associated) Cancer Panel
- Pan-Cancer Panel
Hereditary melanoma-pancreatic cancer (AD)
CDKN2A, CDK4Melanoma, Pancreatic - Familial Melanoma Cancer Panel
- Pancreatic Cancer Panel
- Pan-Cancer Panel
Hereditary diffuse gastric syndrome (AD)
CDH1Gastric & Breast - 3 Breast / Gynecological Cancer Panels
- Colorectal Cancer Panel
- Gastric Cancer Panel
- Pan-Cancer Panel
DICER 1 syndrome (AD)
DICER1Lung, Renal, Ovarian, Thyroid - Breast / Gynecological Cancer Panel
- Pan-Cancer Panel
Polymerase Proofreading Associated syndrome (AD)
POLD1, POLEColorectal & Endometrial - Breast / Gynecological Cancer Panel
- 2 Colorectal Cancer Panels
- Pan-Cancer Panel
Multiple Endocrine Neoplasia (MEN) syndrome type 1 (AD)
MEN1Parathyroid & Pancreatic - Pancreatic Cancer Panel
- Parathyroid Cancer Panel
- Pan-Cancer Panel
Multiple Endocrine Neoplasia (MEN) syndrome type 2 (AD)
RETThyroid & Pheochromocytoma - Paraganglioma / Pheochromocytoma Cancer Panel
- Thyroid Cancer Panel
- Pan-Cancer Panel
BAP1 mutation associated disease (AD)
BAP1Skin, Eye, Renal, Mesothelioma - Familial Melanoma Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
Ataxia-telangiectasia syndrome (AR)
ATM
(Susceptibility to breast, pancreatic & prostate cancer: AD)Leukemia & Lymphoma - 2 Breast / Gynecological Cancer Panels
- Pancreatic Cancer Panel
- Prostate Cancer Panel
- Myelodysplastic syndrome / Leukemia Cancer Panel
- Pan-Cancer Panel
Hereditary-mixed polyposis syndrome (AR)
GREM1Colorectal - Colorectal Cancer Panel
- Pan-Cancer Panel
Constitutional mismatch repair syndrome (AR)
MSH2, MSH6, MLH1, PMS2Hematologic malignancies, Brain, Gastrointestinal, Colorectal - 2 Breast / Gynecological Cancer Panels
- 3 Colorectal Cancer Panels
- Myelodysplastic syndrome / Leukemia Cancer Panel
- Gastric Cancer Panel
- Pancreatic Cancer Panel
- Renal Cancer Pane
- Pan-Cancer Panel
Hereditary Paraganglioma – Pheochromocytoma syndrome (AD)
SDHAF2, SDHB, SDHC, SDHDRenal, Thyroid, Paragangliomas, Pheochromocytomas - Paraganglioma / Pheochromocytoma Cancer Panel
- Renal Cancer Panel
- Pan-Cancer Panel
HOW TO ADMINISTER PreSENTIA?
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RECOMMEND THE IDEAL PANEL TO YOUR PATIENT
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COLLECT A BUCCAL SWAB FROM YOUR PATIENT
SEND THE SAMPLE TO OUR LABORATORY
THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
RESULTS WILL BE SENT TO YOU WITHIN 2-3 WEEKS