Risk Assessment For Hereditary Breast Sophia Genetics-Books Pdf

Risk Assessment for Hereditary Breast SOPHiA GENETICS
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Penetrance Cancer Risk Modifiers, The cumulative risks lifetime risks in female BRCA1 mutation BRCA2 mutation carriers are at an increased risk of developing. carriers by age 70 are 50 80 for breast cancer and 20 45 melanoma pancreatic gall bladder bile duct and stomach. for ovarian cancer The corresponding estimates in female cancers 7 Carriers of moderate penetrance mutations in genes. BRCA2 carriers are 40 85 and 10 25 Male BRCA1 mutation such as ATM BRIP1 CHEK2 and PALB2 among others present a. carriers have a cumulative breast cancer risk of 1 2 by age 70 two fold to four fold increased risk for breast cancer although. whereas BRCA2 carriers have a risk of 6 8 In addition men the risk appears higher in the context of a family history 8 11 In. who carry germline mutations in the BRCA2 gene have up to particular women with an abnormal PALB2 gene have a 33 58. 15 prostate cancer risk by age 65 Moreover BRCA1 and lifetime risk of developing breast cancer 12. Genetic Counselling and Testing, BRCA gene discovery opened the door to clinical benefits the general population provided other relevant genes are also. resulting from breast and ovarian deep genetic analysis Since analyzed and found negative for a pathogenic mutation. then efforts have been made to develop effective screening. methods for breast cancer detection However consensus For the last two decades genetic testing for hereditary breast. methods for screening inherited predispositions to ovarian and ovarian cancers looked for mutations mainly in BRCA1 and. cancer are not yet established 13 Genetic counselling is a BRCA2 genes BRCA1 and BRCA2 gene mutation testing have. very important part of the genetic testing process to collect essentially three possible outcomes a positive result a negative. comprehensive information on family history select the result or an ambiguous uncertain result. appropriate genetic test after obtaining informed consent prior. to communicating results on surveillance prevention measures A positive result indicates that a person has inherited a known. to patients as well as to at risk family members harmful BRCA mutation and therefore has an increased risk. of developing breast and or ovarian cancer Although rare. The identification of causative mutations as genomic biomarkers BRCA1 and BRCA2 de novo mutations occasionally occur. of inherited risk for breast and ovarian cancers is known to help mutation rate estimated at 0 3 and give a positive result. decrease morbidity and mortality through most appropriate despite a negative family history 15 However as mentioned. prevention 3 Testing for abnormal breast cancer genes is usually above being at an increased risk doesn t mean that the. done on blood sample or saliva or cheek swab with DNA analysis patient will always develop breast and or ovarian cancer. of the entire genes Until recently individual genes were tested A negative test indicates that the person doesn t harbor. separately and sequentially by traditional Sanger sequencing a harmful BRCA mutation and therefore has a risk of. technology developing cancer closer to the one of the general. population, However decreasing costs and improved efficiencies in high An ambiguous result indicates that a person harbors a. throughput Next Generation Sequencing have rendered full variant of unknown significance VUS in BRCA1 or BRCA2. gene sequencing and multi gene panels more cost effective genes that has not been previously associated with cancer. In at risk families identifying germline pathogenic mutations This type of test result is described as ambiguous because. is a crucial component in the medical management of affected it isn t known yet to the current scientific knowledge. patients The effect of genetic testing reaches beyond the index whether this specific gene change affects a person s risk of. patient with cancer as there are implications for the entire developing cancer 6. family Relatives of affected patients are then typically offered a. genetic testing for a specific pathogenic mutation Nowadays PALB2 is regarded as a bona fide breast cancer. Those who test positive for the germline pathogenic mutation predisposition gene This has led many nations such as France. can take appropriate actions to prevent cancer or have cancer Germany and Belgium to have best practice guidelines which. diagnosed as early as possible for better treatment options 14 include recommendations for PALB2 genetic testing and risk. On the other hand at risk family members who are identified management 12. as non carriers of the familial mutation can be reassured as. they run a risk of breast and ovarian cancer similar to that of. Risk Assessment for Hereditary Breast and Ovarian Cancers SOPHiA GENETICS 2018 2. Risk Assessment and Preventive Strategies, Today several options are offered in particular for pathogenic Prophylactic mastectomy and salpingo oophorectomies. BRCA mutation carriers to manage cancer risk These include Bilateral prophylactic surgery involves removing both. regular surveillance prophylactic mastectomy and salpingo breasts to reduce by 90 the risk of developing breast. oophorectomies which have been shown to reduce the risk of cancer Breast reconstruction usually takes place during the. developing ovarian and breast cancer and preventive hormonal mastectomy. During reconstruction the surgeon creates a breast shape. Regular surveillance using an artificial implant a flap of tissue from another. Women who test positive for BRCA1 or BRCA2 mutations place of women s body autologous reconstruction or both. start regular cancer screening at younger ages than the Although reconstruction techniques have been improving. general population between 25 and 30 Pregnant women complications occur in 50 of the cases wound infection. and those who are treated for infertility are also monitored flap failure hardening and changing shape of the implant. Although enhanced screening may increase the chance of unequal breasts and leakage of the implant fluid 6 7. detecting a treatable breast cancer at early stage 18 of. breast cancers develop between two screening tests 30 Surgery to remove women s ovaries and fallopian tubes. of these cancers are generally invasive with lymph nodes bilateral prophylactic salpingo oophorectomy can also be. involvement in 10 of cases and may compromise patients applied after parenting projects It can help reduce the risk. lives Recent studies demonstrated that MRI is more sensitive of not only ovarian cancer by 80 but also breast cancer by. than mammography in detecting breast cancer at early 50 in premenopausal women Breast cancer risk reduction. stages However it is less specific may lead to more false is explained in part by eliminating a source of hormones that. positive results Today recommendations require an annual can fuel the growth of hormone dependent breast cancer 16 17. screening with a clinical breasts examination mammography. and MRI 16 Preventive hormonal therapy, Two chemopreventive drugs Tamoxifen and Raloxifene have.
This standard has not yet been met for ovarian cancer been approved by the U S Food and Drug Administration. screening Still most centers recommend transvaginal FDA to reduce breast cancer risk in women with a. ultrasound and blood testing for CA 125 tumor biomarker in harmful BRCA mutation Today there are no European. women with harmful BRCA mutation beginning at age 35 recommendations regarding chemoprevention although. Men can also carry a harmful BRCA mutation and undergo many studies have proved the effect of Tamoxifen Raloxifene. mammography as well as prostate cancer testing 6 and also aromatase inhibitors on reducing breast cancer risk. This preventive therapy only concerns breast cancer 6 18 19 20. Hereditary Cancer Solution by SOPHiA GENETICS, Although mutations in the BRCA1 and BRCA2 genes by far Cancer Solution HCS by SOPHiA GENETICS bundles the. represent the majority of causative inherited defects mutations analytical power of SOPHiATM AI with a capture based target. in additional genes have recently been identified as being also enrichment kit and full access to SOPHiA DDM platform It. responsible for increased risk of breast and ovarian cancers represents a comprehensive solution with superior analytical. Thus extending the analysis to these genes is important in performance for the detection of genomic variants associated. the prevention diagnosis and treatment of hereditary breast with hereditary cancers Moreover the HCS obtained the. and ovarian cancers The analysis of extended gene panels CE IVD mark for the risk assessment of hereditary breast. into clinical practice allows a growing number of genes to be ovarian and digestive cancers The gene panel covers the. routinely tested for cancer related variants Changes in gene coding regions 25 bp of non coding DNA in exon flanking. patent laws and advances in sequencing technologies have regions of 26 most clinically relevant genes associated with. resulted in rapid expansion of genetic testing The Hereditary hereditary cancer syndromes as shown in the table below. Risk Assessment for Hereditary Breast and Ovarian Cancers SOPHiA GENETICS 2018 3. DISEASE GENES, ATM BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 FAM 175A MRE11A NBN. Hereditary Breast Ovarian Cancer, PALB2 PIK3CA RAD50 RAD51C RAD51D TP53 and XRCC2. Lynch Syndrome EPCAM MLH1 MSH2 MSH6 PMS2 and PMS2CL. Intestinal Polyposis Syndrome MUTYH PTEN and STK11. Familial Adenomatous Polyposis APC, The pseudogene PMS2CL is part of the analysis but not a gene responsible for disease. In particular it is very well suited for clinical routine diagnostics Up to now algorithm limitations for detecting and quantifying. of hereditary breast and or ovarian cancer allowing variant CNVs have systematically precluded the simultaneous analysis. detection in 17 disease relevant genes including BRCA1 and of all most relevant BRCA variants as well as other gene variants. BRCA2 as well as PALB2 gene mandatory to analyze since involved in breast and ovarian cancer in a one shot experiment. September 2015 in patients that are at high risk of developing. hereditary breast cancer Overcoming algorithm limitations has been possible today thanks. to SOPHiA AI which accurately detects annotates and pre. Next Generation Sequencing NGS is successfully replacing classifies CNVs to help clinicians better diagnose their patients. much less cost effective Sanger based sequencing methods. However the current limitation of NGS is related to its failure Thus by detecting all BRCA variants as well as all other genes. to detect large genomic rearrangements or Copy Number of the HCS panel in a single NGS experiment the HCS allows. Variations CNVs typically affecting several hundreds of base sparing the extra cost and time associated with additional. pairs of genomic DNA experiments, Reference Partners.
CHU de Nantes Laboratory of Medical Genetics, Back in 2010 the laboratory of Medical Genetics at the CHU the laboratory rapidly adopted the HCS based on capture. de Nantes was using a panel for BRCA1 and BRCA2 mutation technology for DNA enrichment. detection based on Multiplex PCR amplification for DNA. enrichment to diagnose patients that were at high risk of SOPHiA GENETICS offers today a complete integrated. developing breast and ovarian cancers This PCR was completed and validated technology ready to use in routine clinical. by MLPA technology for BRCA1 and BRCA2 in order to detect diagnostics including DNA sequencing data analysis and. large deletions rearrangements patients data storage in secured servers Only accessible. on SOPHiA DDM platform SOPHiA AI allows a robust and. In 2016 the laboratory decided to implement the HCS by accurate CNV detection for BRCA1 and BRCA2 genes. SOPHiA GENETICS in routine diagnostics and to adopt. SOPHiA DDM the SaaS Analytical Platform Pr St phane B zieau Head of Medical Genetics Department at. the CHU de Nantes, Thanks to the SOPHiA GENETICS Validation Program. Risk Assessment for Hereditary Breast and Ovarian Cancers SOPHiA GENETICS 2018 4. IPG Institute of Pathology and Genetics in Gosselies. The Institute of Pathology and Genetics IPG is heir to a long difficult and diverse patients samples Thanks to SOPHiA. tradition of diagnostics and clinical analysis bringing together we are now able to detect the ALU insertion in the exon 3. under one roof all activities and analyses in the fields of of BRCA2 gene. anatomical pathology human genetics and molecular biology. Dr Pascale Hilbert Director of Molecular Biology Department. IPG was using a panel detecting mutations in BRCA1 and BRCA2. genes since 2014 but CNV detection was not optimal Two years. later the laboratory decided to switch to an extended panel and I have to say I am impressed by the performance of. chose the HCS by SOPHiA GENETICS It was the first site ever SOPHiA GENETICS solution and I am someone who is not. to adopt the HCS extended panel in routine diagnostics easily impressed. You have found everything there was to find I am Mr Nicolas Simonis Lead Bioinformatician at IPG. impressed that SOPHiA got the analysis right the first time. and could find all the variants and CNVs in a selection of. Conclusion PERFORMANCE, OBSERVED LOWER 95 CI, MEASUREMENT. The Hereditary Cancer Solution by SOPHiA GENETICS in. combination with the Illumina MiSeq instrument lead to an Sensitivity 100 99 20. excellent performance see table on the right Hospitals and. Risk Assessment for Hereditary Breast and Ovarian Cancers SOPHiA GENETICS 2018 Introduction The National Cancer Institute estimates that 12 of all women about 1 in 8 will be diagnosed with breast cancer and 3 will be diagnosed with ovarian cancer throughout their lifetime 1 2 5 10 of all breast and ovarian cancers diagnosed are hereditary

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