Organ and Specific Panel Details
Organ and System Specific Hereditary Cancer Panels by PsiGenex
PsiGenex offers nine organ and system specific panels, covering the most common hereditary cancer syndromes. With these, only genes that are relevant to that selected cancer will be reported.
Our highly sensitive BRCA1 and BRCA2 Panel covers these two genes as they are the most common genes associated with Hereditary Breast and Ovarian Cancer Syndrome. Individuals with pathogenic mutations in one of these tumor suppressor genes have a significantly increased risk of developing hereditary breast and ovarian cancer syndrome, as well as other cancers.
Genes Analyzed
| BRCA1 | BRCA2 |
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary breast cancer, which include but are not limited to:
- Early-onset breast cancer.
- Triple-negative breast cancer.
- Bilateral or multiple primary breast cancers.
- Male breast cancer at any age.
- Ashkenazi Jewish descent with breast cancer at any age.
- Ovarian cancer at any age.
- Known BRCA1 or BRCA2 mutation in the family.
- Family history of multiple cancers.
Our highly sensitive Hereditary Breast Cancer Panel analyzes 18 genes, covering all the high penetrance genes included in the NCCN, ASCO, ACOG, and ACMG guidelines, as well as other medium risk genes that have well-established evidence of association with hereditary breast cancer.
Genes Analyzed
| ATM | BARD1 | BRCA1 | BRCA2 | BRIP1 | CDH1 |
| CHEK2 | MRE11A | MUTYH | NBN | NF1 | PALB2 |
| PTEN | RAD50 | RAD5ZC | PAD51D | STK11 | TP53 |
Breast cancer is the most common type of inherited cancer. 1 in every 10 women with breast cancer is predisposed by germline mutations. Mutations in the BRCA1 or BRCA2 genes account for the majority of hereditary breast cancer cases, however, there are other high penetrance genes, such as PTEN and TP53, which have a well-established association with hereditary breast cancer. Individuals with a pathogenic variant in these genes have a significantly increased risk of developing breast cancer.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary breast cancer, which include but are not limited to:
- Early-onset breast cancer.
- Triple-negative breast cancer.
- Bilateral or multiple primary breast cancers.
- Male breast cancer at any age.
- Ashkenazi Jewish descent with breast cancer at any age.
- Ovarian cancer at any age.
- Known BRCA1 or BRCA2 mutation in the family.
- Family history of multiple cancers.
Our highly sensitive Hereditary Colorectal Cancer Panel analyzes 17 genes, covering all high penetrance genes as well as other medium risk genes that have well-established evidence of association with hereditary colorectal cancer.
Genes Analyzed
| PAC | AXIN2 | BMPR1A | CDH1 | GALNT12 | GREM1 |
| MLH1 | MSH2 | MSH3 | MUTYH | PMS2 | POLD1 |
| POLE | PTEN | RNF43 | SMAD4 | TP53 |
Colorectal cancer is the third most common cancer in both men and women and the second most common cause of cancer deaths in the United States. About 5% of colorectal cancer is hereditary, caused largely by mutations in mismatch repair genes. Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing colorectal cancer in their lifetime. The major hereditary colorectal cancer syndromes are Lynch syndrome (previously known as Hereditary NonPolyposis Colorectal Cancer or HNPCC), Familial Adenomatous Polyposis (FAP), Peutz Jeghers syndrome, and Juvenile Polyposis syndrome.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary colorectal cancer, which include but are not limited to:
- Early-onset colorectal cancer.
- Multiple primary cancers, including colorectal cancer.
- Family history of other tumors on the Lynch syndrome spectrum of cancers.
- Tumor testing shows a mismatch repair genes mutation.
- Presence of an abnormally high number (10+) of precancerous colorectal polyps (adenomas).
- Multiple hamartomatous colorectal polyps.
- A clinical or family history that meets the criteria for evaluating specific hereditary colorectal cancer syndromes.
Our highly sensitive Hereditary Endometrial Cancer Panel analyzes 13 genes that cover all the high penetrance genes as well as other high and medium risk genes that have well-established evidence of association with hereditary endometrial cancer.
Genes Analyzed
| BRCA1 | BRCA2 | CHEK2 | EPCAM | POLD1 |
| MSH2 | MSH6 | MUTYH | PMS2 | |
| PTEN | STK11 | TP53 | MLH1 |
Uterine cancer is the fourth most common cancer and the sixth most common cause of cancer death among women in the United States. Hereditary endometrial cancer accounts for about 2-5% of all cases, caused largely by mutations in DNA mismatch repair genes. Common inherited syndromes known to increase a woman’s lifetime risk include Lynch syndrome and Cowden syndrome.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary endometrial cancer, which include but are not limited to:
- Endometrial cancer diagnosed under the age of 50.
- Multiple cancers in one person (such as colon cancer and endometrial cancer).
- Tumor testing that indicates mutation in high penetrance genes.
- Multiple relatives diagnosed with endometrial cancer and/or related cancers. (including breast, ovarian, and colon) on the same side of the family and spanning multiple generations.
Our highly sensitive Hereditary Gastric Cancer Panel analyzes 23 genes, covering all high penetrance genes as well as other high and medium risk genes that have well-established evidence of association with hereditary gastric cancer.
Genes Analyzed
| APC | BMPR1A | BRCA1 | BRCA2 | CDH1 | CTNNA1 | EPCAM | KIT |
| MEN1 | MLH1 | MSH2 | MSH6 | MUTYH | NF1 | PDGFRA | PMS2 |
| SDHA | SDHB | SDHC | SDHD | SMAD4 | STK11 | TP53 |
Approximately 10% of gastric cancer is hereditary. The most important susceptibility gene for gastric cancer is the CDH1 gene, however other genes associated with an increased risk include APC, BRCA1, BRCA2, and MSH. Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing gastric cancer.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary gastric cancer, which include but are not limited to:
- Early-onset gastric cancer.
- Gastric cancer in multiple relatives on the same side of the family.
- Multiple cancers such as breast cancer (particularly lobular type), and other GI tumors in the same individual or in close family members.
- Gastric polyposis.
Our highly sensitive Hereditary Melanoma Panel analyzes 7 genes, covering all high penetrance genes as well as other high and medium risk genes that have well-established evidence of association with melanoma.
Genes Analyzed
| BAP1 | BRCA2 | CDK4 | CDKN2A |
| MITF | PTEN | TP53 |
Skin cancer is the most common cancer in the United States and worldwide. Though melanoma accounts for only 1% of skin cancers, it causes a large number of skin cancer-related deaths. About 7–15% of patients with melanoma have a family history of the disease. The most common gene associated with hereditary melanoma is the CDKN2A gene, though several other high and intermediate penetrance melanoma susceptibility genes have been identified. Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing melanoma.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for melanoma, which include but are not limited to:
- Multiple primary melanomas.
- History of melanoma in close relatives on the same side.
- Melanoma along with kidney cancer, pancreatic cancer, or mesothelioma in the same person, or close relatives.
- A family history of a mutation in a gene that predisposes patients to melanoma.
Our highly sensitive Hereditary Ovarian Cancer Panel analyzes 21 genes, covering all high penetrance genes as well as other high and medium risk genes that have well-established evidence of association with melanoma.
Genes Analyzed
| BARD1 | BRCA1 | BRCA2 | BRIP1 | CDH1 | CHEK2 | DICER1 |
| EPCAM | MLH1 | MRE11A | MSH2 | MSH6 | NBN | PALB2 |
| PMS2 | PAD50 | RAD51C | PAD51D | SMARCA4 | STK11 | TP53 |
Ovarian cancer is the second most common gynecologic cancer in the United States. 1 in 70 women in the US will develop ovarian cancer during their lifetime. Among the patients who are diagnosed with ovarian cancer, over 15% of patients have a germline BRCA mutation. In addition to BRCA1 and BRCA2, other high penetrance genes like BRIP1 and MSH6 have a well-established association with hereditary ovarian cancer. Individuals with a pathogenic variant in any of these genes have a significantly increased risk of developing ovarian cancer.
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary ovarian cancer, which include but are not limited to:
- Ovarian cancer at an early age.
- Uterine cancer diagnosed at an early age or with an abnormal MSI gene.
- Multiple primary cancers in one person.
- Close family members with ovarian, breast, uterine or certain other cancers.
Our highly sensitive Hereditary Pancreatic Cancer Panel analyzes 21 genes, covering all high penetrance genes as well as other high and medium risk genes that have well-established evidence of association with hereditary pancreatic cancer.
Genes Analyzed
| PAC | ATM | BMPR1A | BRCA1 | BRAC2 | CDK4 | CDKN4A |
| EPCAM | MEN1 | MLH1 | MSH2 | MSH6 | NF1 | PALB2 |
| PMS2 | SMAD4 | STK11 | TIP53 | TSC1 | TSC2 | VHL |
Approximately 5-10% of pancreatic cancers are hereditary. Several germline mutations are identified in hereditary pancreatic cancers, including BRCA1, BRCA2, PALB2, ATM, CDKN2A, and APC. Individuals with a pathogenic variant in these genes have an increased risk of malignancy compared to the average person. Pancreatic cancer is associated with many hereditary cancer syndromes, such as hereditary pancreatitis and
Lifetime Cancer Risks
Who Should Get Tested?
Certain red flags indicate a higher risk for hereditary pancreatic cancer, which include but are not limited to:
- Pancreatic cancer diagnosed at an early age.
- Multiple cancers in one person (such as pancreatic cancer and breast cancer).
- Close relatives diagnosed with pancreatic cancer and/or related cancers (including breast, colon, and melanoma).
Our highly sensitive Hereditary Prostate Cancer Panel analyzes 14 genes, covering all high penetrance genes as well as other medium risk genes that have well-established evidence of association with hereditary prostate cancer.
Genes Analyzed
| ATM | BRCA1 | BRCA2 | CHEK2 | EPCAM | MOXB13 | MLH1 |
| MSH2 | MSH6 | NBN | PALB2 | PMS2 | RAD51D | TP53 |
In the United States, prostate cancer is the second most common cancer among men. About 8% to 12% of patients with advanced prostate cancer have germline mutations. These mutations in high penetrant genes such as BRCA1, BRCA2, ATM, and MLH1 contribute to hereditary prostate cancer, and those who carry them have a significantly increased risk of developing prostate cancer.
Lifetime Cancer Risks
Who should get tested?
Certain red flags indicate a higher risk for hereditary prostate cancer, which include but are not limited to:
- Early-onset prostate cancer.
- Metastatic prostate cancer at any age.
- Multiple primary cancers in one person (e.g. prostate and male breast cancer).
- Family history of breast, ovarian, pancreatic, or prostate cancer.
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