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Genomics Precision Diagnostic > Oncology > Oncology Susceptibility

Susceptibility

Hereditary cancer syndromes are encountered in all medical specialties. Although they account for about 5% of all malignancies, it is of special importance to identify these patients because, unlike patients with sporadic cancers, they require special, long-term care as their predisposition can cause them to develop certain tumors at a relatively early age.
The Igenomix Susceptibility Cancer Precision Panel provides a comprehensive analysis of the most common hereditary cancer syndromes using next-generation sequencing (NGS) to fully understand the spectrum of relevant cancer predisposition genes.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Hereditary cancer syndromes are encountered in all medical specialties. Although they account for about 5% of all malignancies, it is of special importance to identify these patients because, unlike patients with sporadic cancers, they require special, long-term care as their predisposition can cause them to develop certain tumors at a relatively early age. These cancers can arise in the lungs, kidneys, liver, pancreas, skin, eyes, heart. Most hereditary cancers are associated with a “germline mutation” that will be present in every cell of the human body. Identification of patients at risk of inherited cancer susceptibility is dependent upon the ability to characterize genes and alterations associated with increased cancer risk as well as gathering a detailed personal and family history aiding in the identification of the mode of inheritance as well as other family members at risk of suffering from this susceptibility. Most hereditary cancer syndromes follow an autosomal dominant inheritance, and the penetrance is high.  
  • The Igenomix Susceptibility Cancer Precision Panel provides a comprehensive analysis of the most common hereditary cancer syndromes using next-generation sequencing (NGS) to fully understand the spectrum of relevant cancer predisposition genes.

Indication

The Igenomix Susceptibility Cancer Precision Panel is indicated in those cases where there is:  

  • Multiple relatives on the same side of the family with the same or related forms of cancer  
  • Cancer at an early age.  
  • Early presentation of an aggressive cancer type.  
  • Multiple primary cancers in an individual 
  • Asymptomatic patient with no personal or family history who wishes to know genetic susceptibility to cancer

Clinical Utility

The clinical utility of this panel is:  
 
  • The genetic and molecular diagnosis for an accurate clinical diagnosis of a patient with personal or family history suggestive of a hereditary cancer syndrome.  
  • Early initiation of treatment with a multidisciplinary team for appropriate total body screening, early surgical intervention and/or early screening.  
  • Risk assessment of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases

See all genes and diseases
GENE  OMIM DISEASES  INHERITANCE*  % GENE COVERAGE (20X)  HGMD** 
APC  APC-related attenuated Familial Adenomatous Polyposis, Cenani-Lenz Syndrome, Colorectal Cancer, Hereditary Desmoid disease, Desmoid Tumor, Familial Adenomatous Polyposis 1, Familial Adenomatous Polyposis due to 5q22.2 microdeletion, Gardner syndrome, Gastric cancer, Hepatocellular carcinoma, Turcot syndrome with polyposis  AD  98.92  1846 of 1882 
ATM  Ataxia-telangiectasia, Breast Cancer, Mantle Cell lymphoma  AD,AR  99.93  1608 of 1632 
AXIN2  AXIN2-related attenuated Familial Adenomatous Polyposis, Colorectal Cancer, Oligodontia-Colorectal Cancer Syndrome  AD  99.86  32 of 33 
BAP1  Familial Melanoma, Meningioma, Tumor Predisposition Syndrome, Uveal Melanoma  AD  100  194 of 195 
BARD1  Breast Cancer, Hereditary Breast and Ovarian Cancer syndrome  AD  99.86  195 of 195 
BMPR1A  Familial Colorectal Cancer Type X, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Mixed Polyposis syndrome, Juvenile Polyposis of Infancy, Juvenile Polyposis Syndrome  AD  100  124 of 127 
BRCA1  Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group S, Hereditary Breast and Ovarian Cancer syndrome, Primary Peritoneal Carcinoma  AD,AR,MU  98.97  2783 of 2894 
BRCA2  Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group D1, Glioma 3, Hereditary Breast and Ovarian Cancer syndrome, Medulloblastoma, Nephroblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor 1  AD,AR,MU  98.51  3343 of 3451 
BRIP1  Breast Cancer, Fanconi Anemia Complementation Group J, Hereditary Breast and Ovarian Cancer syndrome  AD,AR  94.97  235 of 237 
CDH1  Blepharo-Cheilo-Odontic syndrome, Breast Cancer, Cleft lip/palate, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer, Suppressor of Tumorigenicity 8  AD  100  361 of 363 
CDK4  Familial Melanoma, Cutaneous Malignant Melanoma, Well-differentiated Liposarcoma  AD  100  22 of 22 
CDKN2A  Familial Melanoma, Familial Pancreatic Carcinoma, Li-Fraumeni syndrome, Melanoma-Astrocytoma Syndrome, Melanoma-Pancreatic Cancer Syndrome, Cutaneous Malignant Melanoma  AD  94.99  257 of 262 
CHEK2  Breast Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome 2, Osteosarcoma, Prostate Cancer  AD  99.47  307 of 310 
EPCAM  Colorectal Cancer, Hereditary Nonpolyposis type 8, Congenital Diarrhea 5 with Tufting Enteropathy, Lynch Syndrome  AR  99.94  52 of 70 
FANCC  Fanconi Anemia Complementation Group C  AR  100  75 of 75 
FANCM  Fanconi Anemia, Male infertility with azoospermia or oligozoospermia due to single gene mutation, Premature Ovarian Failure 15, Spermatogenic Failure 28  AR  99.73  59 of 61 
FH  Fumarase Deficiency, Hereditary Leiomyomatosis and Renal Cell Cancer, Hereditary Pheochromocytoma-Paraganglioma, Multiple Hereditary Leiomyoma of Skin  AD,AR  100  229 of 232 
FLCN  Birt-Hogg-Dube Syndrome, Colorectal Cancer, Familial Spontaneous Pneumothorax, Primary Spontaneous Pneumothorax, Potocki-Lupski Syndrome, Nonpapillary Renal Cell Carcinoma  AD  100  200 of 205 
HOXB13  Hereditary Prostate Cancer 9    100  5 of 5 
MEN1  Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma  AD  99.9  871 of 876 
MET  Autosomal Recessive Deafness 97, Hepatocellular Carcinoma, Osteofibrous Dysplasia, Pediatric Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma  AD,AR  99.8  41 of 41 
MITF  Coloboma, Osteopetrosis, Microphthalmia, Macrcephaly, Albinism and Deafness, Familial Melanoma, Cutaneous Malignant Melanoma 8, Tietz Syndrome, Waardenburg Syndrome Type 2A, Waardenburg-Shah Syndrome  AD,AR  100  72 of 72 
MLH1  Colorectal Cancer, Hereditary Nonpolyposis Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome  AD,AR  99.94  1079 of 1118 
MSH2  Lynch syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome  AD,AR  99.99  1032 of 1057 
MSH6  Colorectal Cancer, Hereditary Nonpolyposis Type 5, Endometrial Carcinoma, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome  AD,AR  99.28  613 of 641 
MUTYH  Familial Adenomatous Polyposis 2, Gastric Cancer, MUTYH-Related attenuated Familial Adenomatous Polyposis  AR  100  183 of 183 
NBN  Aplastic Anemia, Hereditary Breast and Ovarian Cancer Syndrome, Acute Lymphocytic Leukemia, Nijmegen Breakage Syndrome  AR,MU,P  100  200 of 200 
NF1  17q11.2 Microduplication Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Juvenile Myelomonocytic Leukemia, Neurofibromatosis Type 1 due to NF1 mutation or intragenic deletion, Neurofibromatosis-Noonan syndrome, Familial Spinal Neurofibromatosis, Watson Syndrome  AD  97.97  3082 of 3166 
NTHL1  Familial Adenomatous Polyposis 3, NTHL1-Related attenuated Familial Adenomatous Polyposis  AR  100  13 of 13 
PALB2  Breast Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group N, Hereditary Breast and Ovarian Cancer Syndrome  AD,AR  98.78  601 of 617 
PC  Pyruvate Carboxylase Deficiency  AR  100  48 of 48 
PMS2  Colorectal Cancer, Hereditary Nonpolyposis Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome  AD,AR  97.17  264 of 285 
POLD1  Colorectal Cancer 10, Mandibular Hypoplasia, Deafness, Progeroid Features and Lipodystrophy Syndrome, Polymerase proofreading-related Adenomatous Polyposis  AD  100  40 of 41 
POLE  Colorectal Cancer 12, Facial Dysmorphism, Immunodeficiency, Livedo and Short Stature, IMAGe Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies and Immunodeficiency, Polymerase proofreading-related Adenomatous Polyposis  AD,AR  100  100 of 100 
POT1  Familial melanoma, Glioma 9, Cutaneous Malignanty Melanoma  AD  99.76  42 of 47 
PTEN  Bannayan-Riley-Ruvalcaba syndrome, Cowden Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, Juvenile Polyposis of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familial Meningioma, Prostate Cancer, Proteus Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome  AD  99.97  609 of 629 
RAD51C  Familial Breast-Ovarian Cancer-1, Fanconi Anemia Complementation Group O, Hereditary Breast and Ovarian Cancer Syndrome  AR  100  130 of 130 
RAD51D  Hereditary Breast and Ovarian Cancer Syndrome    100  97 of 97 
RECQL  Rapadilino Syndrome, Osteoarcoma, Lymphoma    99.71  32 of 34 
RET  Congenital Failure of Autonomic Control, Haddad Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Hirschsprung Disease, Multiple Endocrine Neoplasia type 2A and 2B, Pheochromocytoma, Bilateral Renal Agenesis, Sporadic Pheochromocytoma/Secreting Paraganglioma, Familial Medullary Thyroid Carcinoma  AD  100  453 of 454 
SCG5  Hereditary Mixed Polyposis syndrome    100  na of na 
SDHB  Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Paragangliomas 4, Pheochromocytoma, Sporadic Pheochromocytoma/Secreting Paraganglioma  AD  100  261 of 264 
SDHC  Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Paragangliomas 3  AD  99.95  62 of 63 
SDHD  Carcinoid Syndrome, Carney-Stratakis Syndrome, Cowden Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Mitochondrial Complex 2 Deficiency, Paragangliomas 1, Sporadic Pheochromocytoma,  Pheochromocytoma/Secreting Paraganglioma  AD,AR  99.98  164 of 166 
SMAD4  Familial Pancreatic Carcinoma, Familial Thoracic Aortic Aneurysm and Aortic Dissection, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis Syndrome, Myhre Syndrome, Pancreatic Cancer  AD  99.56  136 of 136 
STK11  Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor  AD  81.99  456 of 470 
TP53  Adrenocortical Carcinoma, Basal Cell Carcinoma, Bone Marrow Failure Syndrome 5, Breast Cancer, Colorectal Cancer, Essential Thrombocythemia, Familial Pancreatic Carcinoma, Glioma 1, Hepatocellular Carcinoma, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Nasopharyngeal Carcinoma, Osteosarcoma, Pancreatic Cancer, Papilloma of Chroid Plexus  AD,MU,P  98.92  557 of 563 
TSC1  Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-1  AD  99.86  390 of 406 
TSC2  Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-2  AD  100  1157 of 1159 
VHL  Familial Erythrocytosis, Hereditary Pheochromocytoma-Paraganglioma, Pheochromocytoma, Nonpapillary Renal Cell Carcinoma, Sporadic Pheochromocytoma/Secreting Paraganglioma,Von Hippel-Lindau Syndrome  AD,AR  100  511 of 544 

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial 

** HGMD: Number of clinically relevant mutations according to HGMD 

Methodology

References

See scientific referrals
Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J. W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., Levy, M. J., Chak, A., Fockens, P., Goggins, M., Bruno, M., & International Cancer of Pancreas Screening (CAPS) Consortium (2013). International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut, 62(3), 339–347. https://doi.org/10.1136/gutjnl-2012-303108  
 
Rahner, N., & Steinke, V. (2008). Hereditary cancer syndromes. Deutsches Arzteblatt international, 105(41), 706–714. https://doi.org/10.3238/arztebl.2008.0706   
 
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., Burt, R. W., & American College of Gastroenterology (2015). ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 
The American journal of gastroenterology, 110(2), 223–263. https://doi.org/10.1038/ajg.2014.435   
 
Li et al. (2020). Points to consider for reporting of germline variation in patients undergoing tumor testing: 
a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine, 22(7), 1142-1148. doi: 10.1038/s41436-020-0783-8   
 
Garber, J. E., & Offit, K. (2005). Hereditary cancer predisposition syndromes. 
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 23(2), 276–292. https://doi.org/10.1200/JCO.2005.10.042   
 
National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection 
 

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