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      Genomics Precision Diagnostic > Oncology > Oncology Hereditary Breast Cancer

      Hereditary Breast Cancer – 34 genes

      Breast cancer is the most common malignancy among females and the second most common cause of death from a neoplastic disease affecting women. 
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Breast cancer is the most common malignancy among females and the second most common cause of death from a neoplastic disease affecting women. Up to 5%-10% of breast cancer cases are hereditary and are caused by pathogenic mutations in genes such as BRCA1 and BRCA2 as well as germline mutations in other high penetrant genes. Nonetheless, some of these genes have been associated with other cancers, such as ovarian, pancreatic and colorectal cancer. 
      • 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 of these genes are inherited in an autosomal dominant fashion.  
      • The Igenomix Hereditary Breast Cancer Precision Panel can be used as a screening and diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance. 

      Indication

      The Igenomix Hereditary Breast Cancer Precision Panel is indicated in those cases where there are:  

      • Individuals with personal history of breast/ovarian cancer and one of the following 
      • Breast and/or ovarian or pancreatic cancer in at least two blood relatives. 
      • Multiple primary breast cancers or bilateral breast cancer first diagnosed before the age of 50 years. 
      • Premenopausal triple negative breast cancer diagnosed at a young age (<45 years). 
      • Male breast cancer in a blood relative. 
      • Ethnicities with high BRCA mutation frequency, such as Ashkenazi Jews, should be tested, even in the absence of family history. 

      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 hereditary breast cancer.  
      • Early initiation of treatment with a multidisciplinary team for appropriate surveillance, chemoprevention and risk-reducing mastectomy (RRM) or risk-reduction salpingo-oophorectomy.  
      • Risk assessment of asymptomatic family members according to the mode of inheritance  
      • Reduce morbidity related to breast cancer or morbidity secondary to complications of surveillance and treatment. 
      • Improved pathways from diagnosis to treatment in susceptible populations. 

      Genes & Diseases

      List of genes included in the Hereditary Breast Cancer Precision Panel. 

      Most relevant genes have been classified according to: 

      High Risk 

      Well studied 

       

      Greater than 4-fold risk of developing one or more cancers 

       

      Can cause a moderate risk for other cancers 

       

      Guidelines or expert opinion for cancer screening and prevention 

      Moderate Risk 

      Well-studied 

       

      2- to 4-fold risk of developing one or more cancers 

       

      May increase risk for other cancers 

       

      Limited guidelines for screening and prevention 

      Research 

      Not as well-studied 

       

      Precise lifetime risks and tumor spectrum not yet determined 

       

      Guidelines for screening and prevention are limited or not available 

       

      See all genes and diseases

      GENE 

      RISK 

      OMIM DISEASES 

      INHERITANCE* 

      % GENE COVERAGE (20X) 

      HGMD** 

      AKT1 

       

      Breast Cancer, Colorectal Cancer, Cowden Syndrome, Meningioma, Proteus Syndrome 

      AD 

      100% 

      6 of 6 

      ATM 

      Moderate risk 

      Ataxia-Telangiectasia, Breast Cancer, Mantle Cell Lymphoma 

      AD,AR 

      99.93% 

      1608 of 1632 

      BARD1 

      Moderate risk 

      Breast Cancer, Hereditary Breast And Ovarian Cancer Syndrome 

      AD 

      99.86% 

      195 of 195 

      BRCA1 

      High risk 

      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 

      High risk 

      Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group D1, Glioma, Hereditary Breast And Ovarian Cancer Syndrome, Medulloblastoma, Nephroblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor 

      AD,AR,MU 

      98.51% 

      3343 of 3451 

      BRE 

       

      Brain Glioma, Synchronous Bilateral Breast Carcinoma 

       

      98.20% 

      NA of NA 

      BRIP1 

      Moderate risk 

      Breast Cancer, Fanconi Anemia Complementation Group J, Hereditary Breast And Ovarian Cancer Syndrome 

      AD,AR 

      94.97% 

      235 of 237 

      CDH1 

      High risk 

      Blepharo-Cheilo-Odontic Syndrome, Breast Cancer, Cleft Lip/Palate, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer 

      AD 

      100% 

      361 of 363 

      CHEK2 

      Moderate risk 

      Breast Cancer, Hereditary Breast And Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Osteosarcoma, Prostate Cancer 

      AD 

      99.47% 

      307 of 310 

      EPCAM 

       

      Hereditary Nonpolyposis Colorectal Cancer Type 8, Congenital Diarrhea With Tufting Enteropathy, Lynch Syndrome 

      AR 

      99.94% 

      52 of 70 

      FAM175A 

      Moderate risk 

      Ovarian Cancer, Breast Cancer, Fanconi Anemia Complementation Group A 

      – 

      94.81% 

      NA of NA 

      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; Spermatogenic Failure 

      AR 

      99.73% 

      59 of 61 

      GEN1 

       

      Xeroderma Pigmentosum Complementation Group G 

      – 

      99.71% 

      6 of 6 

      MEN1 

       

      Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma 

      AD 

      99.90% 

      871 of 876 

      MLH1 

       

      Hereditary Nonpolyposis Colorectal Cancer Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome 

      AD,AR 

      99.94% 

      1079 of 1118 

      MRE11 

      Moderate risk 

      Ataxia-Telangiectasia-Like Disorder, Hereditary Breast And Ovarian Cancer Syndrome 

      AR 

      99.95% 

      NA of NA 

      MSH2 

       

      Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome 

      AD,AR 

      99.99% 

      1032 of 1057 

      MSH6 

       

      Hereditary Nonpolyposis Colorectal Cancer Type 5, Endometrial Carcinoma, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome 

      AD,AR 

      99.28% 

      613 of 641 

      MUTYH 

       

      Familial Adenomatous Polyposis, Gastric Cancer, MUTYH-Related Attenuated Familial Adenomatous Polyposis 

      AR 

      100% 

      183 of 183 

      NBN 

      Moderate risk 

      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, Neurofibromatosis-Noonan Syndrome, Familial Spinal Neurofibromatosis Type I, Watson Syndrome 

      AD 

      97.97% 

      3082 of 3166 

      PALB2 

       

      Breast Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group N, Hereditary Breast And Ovarian Cancer Syndrome 

      AD,AR 

      98.78% 

      601 of 617 

      PIK3CA 

       

      Breast Cancer, Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs And Partial/Generalized Overgrowth, Colorectal Cancer, Congenital Lipomatous Overgrowth, Vascular Malformations And Epidermal Nevi, Cowden Syndrome, Gastric Cancer, Hemihyperplasia-Multiple Lipomatosis Syndrome, Hepatocellular Carcinoma, Seborrheic Keratosis, Lung Cancer, Lynch Syndrome, Macrocephaly-Capillary Malformation, Meningioma 

      AD 

      99.58% 

      54 of 58 

      PMS2 

       

      Hereditary Nonpolyposis Colorectal Cancer Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome 

      AD,AR 

      97.17% 

      264 of 285 

      PTEN 

      High risk 

      Bannayan-Riley-Ruvalcaba Syndrome, Cowden Disease, Hereditary Breast And Ovarian Cancer Syndrome, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familial Meningioma, Prostate Cancer, Proteus Syndrome, Proteus-Like Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 

      AD 

      99.97% 

      609 of 629 

      RAD50 

      Moderate risk 

      Hereditary Breast And Ovarian Cancer Syndrome, Nijmegen Breakage Syndrome-like Disorder 

      AR 

      99.94% 

      117 of 120 

      RAD51C 

      Moderate risk 

      Familial Breast-Ovarian Cancer, Fanconi Anemia Complementation Group O, Hereditary Breast And Ovarian Cancer Syndrome 

      AR 

      100% 

      130 of 130 

      RAD51D 

      Moderate risk 

      Hereditary Breast And Ovarian Cancer Syndrome 

      – 

      100% 

      97 of 97 

      RECQL 

       

      Inherited Cancer-Predisposing Syndrome 

      – 

      99.71% 

      32 of 34 

      RINT1 

       

      Infantile Liver Failure Syndrome 

      AR 

      99.96% 

      16 of 16 

      STK11 

      High risk 

      Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular tumor 

      AD 

      81.99% 

      456 of 470 

      TP53 

      High risk 

      Adrenocortical Carcinoma, Basal Cell Carcinoma, Bone Marrow Failure Syndrome, Breast Cancer, Colorectal Cancer, Essential Thrombocythemia, Familial Pancreatic Carcinoma, Glioma, Hepatocellular Carcinoma, Hereditary Breast And Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Nasopharyngeal Carcinoma, Osteosarcoma, Pancreatic Cancer, Papilloma Of Choroid Plexus 

      AD,MU,P 

      98.92% 

      557 of 563 

      XRCC2 

       

      Fanconi Anemia Complementation Group U, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation 

      AR 

      98.39% 

      28 of 28 

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

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

      Methodology

      References

      See scientific referrals

      Paul, A., & Paul, S. (2014). The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers. Frontiers in bioscience (Landmark edition), 19, 605–618. https://doi.org/10.2741/4230 

      Yamauchi, H., & Takei, J. (2018). Management of hereditary breast and ovarian cancer. International journal of clinical oncology, 23(1), 45–51. https://doi.org/10.1007/s10147-017-1208-9 

      Apostolou, P., & Fostira, F. (2013). Hereditary breast cancer: the era of new susceptibility genes. BioMed research international, 2013, 747318. https://doi.org/10.1155/2013/747318 

      National Comprehensive Cancer Network.  (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection  

      Hereditary Breast and Ovarian Cancer. (2021). Retrieved 16 February 2021, from https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer 

      Cao, A., Huang, L., & Shao, Z. (2017). The Preventive Intervention of Hereditary Breast Cancer. Advances in experimental medicine and biology, 1026, 41–57. https://doi.org/10.1007/978-981-10-6020-5_3 

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