DIAGNOSTIC SERVICES

Hereditary Cancer

Hereditary cancer syndromes are caused by mutated genes that are inherited from one or both parents. These mutations are also known as germline mutations. These cancers follow a specific pattern within the families such as onset at an early age, a similar type of cancer among close relatives, incidence of two or more cancers in the same person, and so on. PsiGenex Comprehensive Hereditary Cancer Panel analyzes 54 genes that cover all the high penetrance genes included in the NCCN, ASCO, ACOG, and ACMG guidelines and other high and medium risk genes that have well-established evidence of association with hereditary cancer.
Consultative-services

Since 2019, the NCCN guidelines recommended Comprehensive Multi-genes testing over single genes testing when more than one gene can explain an inherited cancer syndrome. Comprehensive Multi-gene testing is superior to one or a few genes testing for many reasons, some common advantages of comprehensive panel testing include:

  • Results will provide a more comprehensive assessment of the genes associated with cancer in a family.
  • It is more efficient and cost-effective because some insurance companies will not cover repeat testing if single/limited gene testing results are negative.
  • The clinical presentations of various hereditary cancer syndromes can overlap, so allows for simultaneous evaluation of multiple genes or syndromes.

A negative result on a multi-gene panel is more reassuring than a negative result for one or a few genes. In addition, panel testing can identify a syndrome that was not the first differential and may have been missed with single gene/limited gene testing

Oncomine Myeloid Panel

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Comprehensive

Hereditary Cancer Gene List

Gene List
APC
ATM
AXIN2
BAP1
BARD1
BMPR1A
BRCA1
BRCA2
BRIP1
CDH1
CDK4
CDKN2A
CHEK2
CTNNA1
DICER1
EPCAM
GALNT12
GREM1
HOXB13
KIT
MEN1
MITF
MLH1
MRE11A
MSH2
MSH3
MSH6
MUTYH
NBN
NF1
NTHL1
PALB2
PDGFRA
PMS2
POLD1
POLE
PTEN
RAD50
RAD51C
RAD51D
RET
RNF43
RPS20
SDHA
SDHB
SDHC
SDHD
SMAD4
SMARCA4
STK11
TP53
TSC1
TSC2
VHL
Familial Adenomatous Polyposis (FAP) / Attenuated FAP (AFAP) / Adenomatous polyposis gardner syndrome

Ataxia-telangiectasia/Hereditary Breast & Ovarian Cancer (HBOC) Syndrome

Oligodontia-colorectal cancer syndrome
BAP1-related tumor predisposition syndrome (TPDS) 

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome

Juvenile Polyposis Syndrome (JPS) & Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/Fanconi Anemia

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/Fanconi Anemia

Hereditary Diffuse Gastric Cancer (HDGC)
Melanoma-Pancreatic Cancer Syndrome (M-PCS) / Melanoma Cancer Syndrome (MCS)
Melanoma-Pancreatic Cancer Syndrome (M-PCS) / Melanoma Cancer Syndrome (MCS)

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome

Hereditary cancer-predisposing syndrome
DICER1 syndrome
Lynch Syndrome / Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Hereditary cancer-predisposing syndrome
Hereditary mixed polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial Gastrointestinal Stromal Tumor syndrome
Multiple endocrine neoplasia Type 1
 Tietz Albinism-Deafness Syndrome / Waardenburg SyndromeType 2A
Lynch Syndrome / Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Turcot syndrome
Ataxia-telangiectasia-like disorder 1
Lynch Syndrome / Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Turcot syndrome
Gene-associated polyposis
Lynch Syndrome / Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Turcot syndrome
MUTYH-Associated Polyposis (MAP) / Associated Cancer

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/ Nijmegen breakage syndrome

Neurofibromatosis Type 1
Gene-associated polyposis

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/Fanconi Anemia

Familial Gastrointestinal Stromal Tumor syndrome
Lynch Syndrome / Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Turcot syndrome
Polymerase proofreading-associated syndrome
Polymerase proofreading-associated syndrome
Bannayan–Riley–Ruvalcaba syndrome/Cowden syndrome/PTEN Hamartoma Tumor Syndrome (PHTS)
Nijmegen breakage syndrome / Nijmegen breakage syndrome-like disorder

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/Fanconi Anemia

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome

Multiple endocrine neoplasia Type 1
 Sessile Serrated Polyposis Cancer Syndrome/Hyperplastic Polyposis Syndrome
 Familial Colorectal Cancer Type X
Hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes /Gastrointestinal stromal tumors (GIST)
Cowden syndrome/Hereditary paraganglioma-pheochromocytoma syndrome/Familial Gastrointestinal Stromal Tumor syndrome
Familial Gastrointestinal Stromal Tumor syndrome/Hereditary paraganglioma-pheochromocytoma syndrome
Cowden syndrome/Hereditary paraganglioma-pheochromocytoma syndrome
Hereditary haemorrhagic telangiectasia/Juvenile Polyposis Syndrome (JPS)
Coffin-Siris syndrome/ Rhabdoid Tumor Predisposition Syndrome 2
Peutz-Jeghers Syndrome (PJS)

Hereditary Breast & Ovarian Cancer (HBOC) Syndrome/Li-Fraumeni Syndrome (LFS)/Renal Cell Carcinoma

Tuberous Sclerosis
Tuberous Sclerosis
Von Hippel-Lindau syndrome/Renal Cell Carcinoma
Breast
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Ovarian
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Colorectal
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Endometrial
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Melanoma
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Pancreatic
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Gastric
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Prostate
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Renal
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Thyroid
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Endocrine
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Brain
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for further information please visit www.psigenex.com