Comprender su resultado elevado. Guía para comprender sus riesgos y tomar medidas

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1 Comprender su resultado elevado Guía para comprender sus riesgos y tomar medidas

2 2017 Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah PH: FX: PRIMERA PARTE: Comprender su resultado El resultado de su prueba podría incluir tres partes: el Resultado de la prueba genética, su riskscore para cáncer de mama (si corresponde) y el Análisis de su historia clínica. Resultado de la prueba genética A. El resumen de los resultados de su prueba Myriad myrisk Hereditary Cancer se incluye en la primera página del informe. 1. El resultado de su prueba myrisk Genetic Result es NEGATIVO. Esto significa que su prueba fue negativa para todos los cambios genéticos de relevancia clínica (denominados mutaciones) de los genes analizados con las pruebas de myrisk Hereditary Cancer. Por esta razón, su riesgo de presentar un síndrome de cáncer hereditario es menor, pero no se descarta completamente. A pesar de que el resultado de su prueba genética fue negativo, su riesgo de presentar cáncer todavía es ELEVADO sobre la base del resultado de su riskscore para cáncer de mama o el Análisis de su historia clínica. Uno o ambos de estos análisis identificaron manejo médico modificado como lo indica el asterisco naranja. Se incluirá un resumen de las recomendaciones para el manejo médico basadas en las principales pautas establecidas por la sociedad médica en la sección Herramienta de Manejo myrisk de su informe. 2. Su resultado podría incluir un riskscore para cáncer de mama. Si se realizó el riskscore, se incluirá información detallada en la página siguiente del Informe de resultado de su prueba genética (ver D.) 3. Su resultado incluirá un Análisis de historia clínica. Este análisis se basa en los factores de riesgo clínicos personales y los antecedentes familiares de cáncer que usted informó a su proveedor. A B Myriad myrisk Hereditary Cancer Test myrisk Genetic Result RECEIVING HEALTHCARE PROVIDER Physician Name, MD Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT ORDERING PHYSICIAN: Physician Name, MD SPECIMEN Specimen Type: Buccal Draw Date: Aug 15, 2017 Accession Date: Aug 30, 2017 Report Date: Sept 4, 2017 MYRISK GENETIC RESULT: NEGATIVE No clinically significant mutation identified. PATIENT Name: Case Study 2 Date of Birth: Mar 5, 1985 Patient ID: 0000 Gender: Female Accession #: Requisition #: BREAST CANCER RISKSCORE : REMAINING LIFETIME RISK 31.3% This level of risk is at or above 20% threshold for consideration of modified medical managament. See riskscore Interpretation Section for more information. CLINICAL HISTORY ANALYSIS: BASED ON THE CLINICAL HISTORY PROVIDED, MODIFIED MEDICAL MANAGEMENT GUIDELINES WERE IDENTIFIED Other clinical factors may influence individualized management. This analysis may be incomplete if details about cancer diagnoses, ages, family relationships or other factors were omitted or ambiguous. ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants), and most variants do not increase an individual s risk of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most likely do not cause increased cancer risk. Present evidence does not suggest that non-clinically significant variant findings be used to modify patient medical management beyond what is indicated by the personal and family history and any other clinically significant findings. Variant Classification: Myriad s myvision Variant Classification Program performs ongoing evaluations of variant classifications. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classification. When new evidence about a variant is identified and determined to result in clinical significance and management change, that information will automatically be made available to the healthcare provider through an amended report. myrisk Genetic Result: Page 1 of 3 B. Sumado a su resultado de riesgo elevado, sus pruebas podrían haber detectado una o más de una variante genética de importancia incierta". En la actualidad se desconoce si una variante genética de importancia incierta se asocia con un mayor riesgo de cáncer. Myriad ha asumido un compromiso vitalicio de trabajar para comprender la naturaleza de estas variantes. Si surgen nuevos datos sobre una variante, esa información se pondrá a disposición de su proveedor de atención médica quien se pondrá en contacto con usted para compartir la información actualizada. Es importante comprender que las intervenciones médicas no debe basarse en un resultado de variante genética de importancia incierta.

3 2017 Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah PH: FX: C. Puede consultar una lista de todos los genes examinados en la sección Genes analizados. C myrisk Genetic Result Name: Case Study 2 DOB: Mar 5, 1985 Accession #: Report Date: Sept 4, 2017 ADDITIONAL INFORMATION GENES ANALYZED Indication for Testing: It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a hereditary predisposition for cancer. Unless otherwise noted sequencing and large rearrangement analyses were Associated Cancer Risks and Clinical Management: Please see the myrisk performed on the following genes: Management Tool associated with this report for a summary of cancer risk and APC, ATM, BARD1, BMPR1A, BRCA1, professional society medical management guidelines that may be useful in developing a BRCA2, BRIP1, CDH1, CDK4, CDKN2A, plan for this patient based on test results and reported personal/family history, if CHEK2, EPCAM (large rearrangement only), applicable. Testing of other family members may assist in the interpretation of this patient s MLH1, MSH2, MSH6, MUTYH, NBN, test result. PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Sequencing was Analysis Description: The Technical Specifications summary (MyriadPro.com/myRisk) performed for select regions of POLE and describes the analysis, method, performance, nomenclature, and interpretive criteria of POLD1. and large rearrangement analysis this test. The classification and interpretation of all variants identified in this assay reflects was performed for select regions of GREM1 the current state of scientific understanding at the time this report was issued, and may (see technical specifications). change as new scientific information becomes available. The interpretation of this test may **Other genes not analyzed with this test be impacted if the patient has a hematologic malignancy or an allogeneic bone marrow may also be associated with cancer. transplant. CLASSIFICATION DISCLAIMER THE CLASSIFICATION AND INTERPRETATION OF ALL VARIANTS IDENTIFIED IN THIS ASSAY REFLECTS THE CURRENT STATE OF MYRIAD S SCIENTIFIC UNDERSTANDING AT THE TIME THIS REPORT WAS ISSUED. VARIANT CLASSIFICATION AND INTERPRETATION MAY CHANGE FOR A VARIETY OF REASONS, INCLUDING BUT NOT LIMITED TO, IMPROVEMENTS TO CLASSIFICATION TECHNIQUES, AVAILABILITY OF ADDITIONAL SCIENTIFIC INFORMATION, AND OBSERVATION OF A VARIANT IN MORE PATIENTS. D. Si se realizó el riskscore, esta página del Informe de resultado de su prueba genética incluirá detalles del análisis. Esta página muestra una estimación de su riesgo de presentar cáncer de mama durante el resto de su vida así como su riesgo para los próximos cinco años. Puede comparar su riesgo con el de la población general usando el gráfico que se incluye. D Breast Cancer riskscore myrisk Genetic Result Name: Case Study 2 DOB: Mar 5, 1985 Accession #: Report Date: Sept 4, 2017 Breast Cancer riskscore 31.3% RESULT: 31.3% Remaining Lifetime Risk for Breast Cancer 1.7% 5-Year Risk for Breast Cancer Si el análisis identificó algún tipo de manejo médico modificado sobre la base de su riskscore, aparecerá un asterisco naranja al lado de su puntaje. Se incluirá un resumen de las recomendaciones para el manejo médico basadas en las principales pautas establecidas por la sociedad médica en la sección Herramienta de Manejo myrisk de su informe. General Population This Patient 0 5 Average Risk BREAST CANCER RISKSCORE INTERPRETATION Breast Cancer riskscore - Remaining Lifetime Risk 20% Risk 2017 Myriad Genetics, Inc. 320 Wakara Way, Threshold Salt Lake City, Utah PH: FX: % Above Average Risk % >50 The breast cancer riskscore provides an estimate of the remaining lifetime risk for breast cancer. A risk estimate greater than 20% is associated with specific modified medical recommendations, including consideration of more aggressive breast cancer screening and additional risk reduction measures. If applicable, details of these recommendations are provided in the accompanying myrisk Medical Management Tool or other supplemental material. Women with a risk estimate below 20% may still be appropriate for consideration of modified medical management based on other clinical factors or estimates from other breast cancer risk models, such as Tyrer-Cuzick, Claus, and Gail. myrisk Genetic Result: Page 2 of 3 E. En la Página de información clínica e información sobre antecedentes familiares de cáncer se muestra la información sobre su historia clínica y los antecedentes personales y familiares de cáncer que informó. BREAST CANCER RISKSCORE ANALYSIS DESCRIPTION The breast cancer riskscore provides 5-year and remaining lifetime breast cancer risks, based on an analysis of genetic markers combined with patient clinical and family history data. The Technical Specifications summary ( describes the analysis, method, performance and interpretive criteria of this test. In some cases, due to biological or technical limitations, analyses of all biomarkers may not be performed. It is unlikely that data from the un-analyzed markers would have a large impact on breast cancer risk estimates provided. /86 markers were analyzed for this patient. Clinical and family history data used for this analysis is shown in the Clinical and Cancer Family History Information section of this report. The accuracy of this information can significantly affect the provided breast cancer risk estimates. Clinical & Cancer Family History Information Name: Case Study 2 DOB: Mar 5, 1985 Accession #: Report Date: Sept 4, 2017 Please contact Myriad Medical Services at X 3850 to discuss any questions regarding this result. These test results should only be used in conjunction with the patient s clinical PATIENT CLINICAL HISTORY history SUMMARY and any previous analysis of appropriate family members. The patient s This Authorized Signature Benjamin B. Woman s Roa, PhD age clinical history and 32 test results should Hormone not be disclosed Replacement to a Therapy third party, (HRT) unless No related to patient s express pertains to this laboratory report: Diplomate ABMG treatment or payment for treatment, without the Ancestry Ashkenazi Jewish - HRT: Treatment type N/A written authorization. It is strongly recommended that these results be Laboratory Director communicated to 5 the 4 patient in a setting - HRT: that Current includes user appropriate counseling. No Height This test was developed and its performance characteristics determined by Weight Richard J. Wenstrup, MD 115 lbs. Laboratories. not - Number of years ago started been cleared or approved by N/A Myriad Genetic It has the U.S. Diplomate ABMG Age of menarche Administration 12 The FDA - Additional has determined years of intended that clearance use or N/A Food and Drug (FDA). Chief Medical Patient s Officer menopausal status approval for laboratory-developed Pre-menopausal tests is - HRT: not Past required. user No - Age of onset N/A - Number of years N/A ago ended Age of first live birth 24 Breast biopsy No 2017 Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah PH: FX: purposes of diagnosing, counseling and treating the patient PERSONAL identified in / FAMILY the report CANCER and members HISTORY of his SUMMARY* or her family. myrisk AGE Genetic AT DIAGNOSIS Result: Page 3 of 3 registered trademarks of Myriad Genetics, Inc. in the United FAMILY States MEMBER and other jurisdictions. CANCER / CLINICAL DIAGNOSIS Patient None - - Mother Breast 52 Maternal Aunt Breast 45 NUMBER OF PATIENT S FEMALE RELATIVES Daughters: 0 Sisters: 2 Maternal Aunts: 2 Paternal Aunts: 1 The clinical information displayed here was provided by a qualified healthcare provider on the Test Request Form and other documents, and was not verified by Myriad. Family members listed as other are not included in a Tyrer-Cuzick breast cancer risk estimate or other personal/family history assessments. For more information see the Specifications for Personal/Family History Analysis at E Clinical & Family History Information: Page 1 of 1 Si tiene preguntas adicionales sobre su resultado, comuníquese con su proveedor de atención médica. El equipo de Servicios Médicos de Myriad también está disponible para ayudarlo: (800) x3850 / helpmed@myriad.com

4 2 SEGUNDA PARTE: Comprender sus riesgos Su riesgo de presentar cáncer en el futuro está determinado por el Resultado de su prueba genética, su historia clínica personal y sus antecedentes familiares de cáncer. La Herramienta de Manejo myrisk ofrece un resumen de sus riesgos basado en el resultado de su prueba genética y la información que suministró a Myriad. Sin embargo, podrían existir factores de riesgo adicionales y debe conversar al respecto con su proveedor. Herramienta de Manejo myrisk F. A pesar de que el resultado de su prueba genética fue negativo para todas las mutaciones genéticas, su riesgo de presentar uno o más tipos de cáncer todavía es ELEVADO si se consideran sus factores clínicos personales, sus antecedentes familiares de cáncer o su riskscore. Myriad myrisk Hereditary Cancer Test myrisk Management Tool RECEIVING HEALTHCARE PROVIDER SPECIMEN Physician Name, MD Specimen Type: Buccal Myriad Healthcare Partners Draw Date: Aug 15, Wakara Way Accession Date: Aug 30, 2017 Salt Lake City, UT Report Date: Sept 4, 2017 ORDERING PHYSICIAN: Physician Name, MD PATIENT Name: Case Study 2 Date of Birth: Mar 5, 1985 Patient ID: 0000 Gender: Female Accession #: Requisition #: G. Si es mujer, su riesgo elevado puede deberse al resultado de su riskscore. El riskscore solo se calcula para las mujeres que tienen menos de 85 años, son de ascendencia europea únicamente y no tienen antecedentes personales de cáncer de mama, carcinoma lobular in situ (LCIS), hiperplasia, hiperplasia atípica o una biopsia de mama con resultados desconocidos. Este puntaje se calcula usando tanto factores genéticos como no genéticos que pueden ser comunes dentro de su familia. Si se calcula que su riskscore es del 20% o más, se incluirá un resumen de recomendaciones de manejo médico más adelante en el informe. F G H GENETIC TEST RESULTS SUMMARY INFORMATION BREAST CANCER RISKSCORE at or above 20% MYRISK GENETIC RESULT: NEGATIVE No clinically significant mutation identified. BREAST CANCER RISKSCORE : REMAINING LIFETIME RISK 31.3% This level of risk is at or above 20% threshold for consideration of modified medical managament. See riskscore Interpretation Section for more information. CLINICAL HISTORY ANALYSIS: BASED ON THE CLINICAL HISTORY PROVIDED, MODIFIED MEDICAL MANAGEMENT GUIDELINES WERE IDENTIFIED Other clinical factors may influence individualized management. This analysis may be incomplete if details about cancer diagnoses, ages, family relationships or other factors were omitted or ambiguous. THIS RISKSCORE RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS: ELEVATED RISK: Breast ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED TYRER-CUZICK BREAST CANCER RISK CALCULATION LIFETIME BREAST CANCER RISK: 24.7% 5-YEAR BREAST CANCER RISK: 0.4% The Tyrer-Cuzick breast cancer risk estimate is not calculated if one or more of the following conditions apply: the woman is known to carry a mutation in a gene associated with breast cancer risk, age is 85 or older, or if the sample was submitted with a version of the Test Request Form that does not include all of the fields required to collect the clinical information used in the calculation. Version 7.02 of the Tyrer-Cuzick model was used for this risk estimate. Tyrer-Cuzick model Versions 7.02 and 8.0 are available for download at the EMS-Trials website, H. Su riesgo elevado podría deberse al análisis de su historia clínica. Si es mujer, nunca recibió un diagnóstico de cáncer de mama y ninguno de sus familiares tiene una mutación genética conocida recibirá un Cálculo de riesgo con Tyrer-Cuzick. Tyrer-Cuzick es un modelo elaborado por reconocidos investigadores para predecir el riesgo que tiene una mujer de presentar cáncer de mama. El modelo de Tyrer-Cuzick considera tanto sus antecedentes familiares de cáncer como otros factores de riesgo clínicos personales. Si su Cálculo de riesgo con Tyrer-Cuzick es del 20% o más, se incluirá un resumen de recomendaciones de manejo médico más adelante en el informe Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah PH: FX: myrisk Management Tool: Page 1 of 4

5 Manejo médico I myrisk Medical Management Name: Case Study 2 DOB: Mar 5, 1985 Accession #: Report Date: Sept 4, 2017 WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED? This overview of clinical management guidelines is based on the patient s personal and family history and genetic test results. Medical management guidelines are summarized from established medical societies, primarily the National Comprehensive Cancer Network (NCCN). The reference cited should always be consulted for more details. If management for a specific cancer (e.g. breast) is available due to multiple causes (e.g. a mutation and a Tyrer-Cuzick risk estimate >20%, or multiple mutations in different genes), only the most aggressive management is shown. Only guidelines for the patient s long-term care related to cancer prevention are included. No information is provided related to treatment of a previous or existing cancer or polyps. The recommendation summaries below may require modification due to the patient s personal medical history, past surgeries and other treatments. Patients with a past history of cancer, benign tumors, or pre-cancerous findings may be candidates for long term surveillance and risk-reduction strategies beyond what is necessary for the treatment of their initial diagnosis. Any discussion of medical management options is for general information purposes only and does not constitute a recommendation. While genetic testing and medical society recommendations provide important and useful information, medical management decisions should be made in consultation between each patient and his or her healthcare provider. FREQUENCY PROCEDURE AGE TO BEGIN (Unless otherwise RELATED TO indicated by findings) FEMALE BREAST Currently there are no specific medical management guidelines for breast cancer risk based on riskscore. However, the estimated remaining lifetime risk of At age identified as greater than 20% warrants consideration of riskreduction strategies similar to those listed below, riskscore (at or above being at increased NA risk which are recommended for women with an estimated lifetime risk greater than 20% based on other risk prediction methods. Clinical encounter, including clinical breast exam, At age identified as ongoing risk assessment and risk reduction NA being at increased risk counseling Breast awareness - Women should be familiar with their breasts and promptly report changes to their Individualized NA healthcare provider. Periodic, consistent breast selfexamination (BSE) may facilitate breast awareness. 10 years younger than the earliest Mammography, with consideration of tomosynthesis diagnosis in the Annually family, but not younger than years younger than the earliest Breast MRI with contrast diagnosis in the Annually family, but not younger than 25 Consider additional risk-reduction strategies Individualized NA 1. Daly M et al. NCCN Clinical Practice Guidelines in Oncology : Genetic/Familial High-Risk Assessment: Breast and Ovarian. V September 19. Available at Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology : Breast Cancer Screening and Diagnosis. V July 27. Available at 3. Mavaddat N, et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst April 2. [Epub ahead of print] PMID: I. La Herramienta de Manejo Médico myrisk ofrece un resumen de las recomendaciones de manejo de las principales sociedades médicas que usted y su proveedor de atención médica podrían considerar. En general, los cambios relativos al manejo de su riesgo de cáncer pueden tomar tres direcciones: 1. Es posible que le realicen estudios con mayor frecuencia y, quizás, con pruebas distintas de las que le realizaron anteriormente, o agregando nuevas pruebas. 2. También podrían recomendarle que tome medicamentos (conocidos como agentes para la reducción del riesgo) para reducir su riesgo. 3. Usted podría analizar con su proveedor algunos cambios en el estilo de vida. Su proveedor de atención médica lo ayudará a determinar el mejor plan de manejo médico para usted. Comuníquese con su proveedor de atención médica de manera regular para obtener información actualizada Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah PH: FX: myrisk Management Tool: Page 3 of 4 3 Puesto TERCERA PARTE: Información para familiares que no se detectaron mutaciones en los genes analizados, sus familiares podrían no necesitar pruebas genéticas. En algunos casos, las pruebas genéticas se deben ofrecer a otro familiar, especialmente si ha recibido el diagnóstico de un cáncer asociado a los presuntos genes de cáncer hereditario que se analizaron en sus pruebas. Esto puede aportar más información sobre el riesgo hereditario para usted y otras personas en su familia. Hable con su proveedor de atención médica quien puede ayudarle a determinar si usted o alguno de sus familiares deberían recibir pruebas genéticas adicionales. Si se determinó que su riesgo estaba por encima del promedio utilizando riskscore, sus familiares de sexo femenino también podrían presentar mayor riesgo de cáncer de mama. Sus familiares podrían hablar con un proveedor de atención médica para analizar sus posibles riesgos.

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8 APOYO PARA PACIENTES Recursos Su proveedor de atención médica es siempre su principal recurso. También lo invitamos a visitar el programa de Myriad que brinda información y apoyo a los pacientes. Encontrará información valiosa que lo ayudará a comprender mejor el resultado de su prueba, y podrá unirse a una comunidad de personas que están realizando el mismo recorrido de pruebas para cáncer hereditario que usted. También puede comunicarse con el equipo de Servicios Médicos de Myriad llamando al interno 3850 para conversar con un asesor genético. Pasos siguientes Usted y su proveedor de atención médica trabajarán juntos para determinar los pasos siguientes más apropiados para usted. A continuación, enumeramos algunas medidas que se pueden evaluar: Programar citas de seguimiento Hablar con sus familiares sobre su resultado y alentarlos a que consulten a su proveedor de atención médica sobre la prevención y las pruebas para el cáncer Evaluar la posibilidad de consultar a un asesor genético sobre el resultado de su prueba y sus antecedentes familiares Pruebas genéticas para el cáncer hereditario proporcionadas por: Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT Myriad, el logotipo de Myriad, Myriad myrisk, el logotipo de Myriad myrisk, riskscore, el logotipo de riskscore, mysupport360 y el logotipo de mysupport360 son marcas comerciales o marcas comerciales registradas de Myriad Genetics, Inc. en los Estados Unidos y en otras jurisdicciones. 2017, Myriad Genetic Laboratories, Inc. MRHCELEVPETSP / 7-17