Comprender su - s3.amazonaws.comResult+PE… · Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result. myRisk Genetic Result:

Comprender su resultado positivo

Guía para comprender sus riesgos y tomar medidas

© 2017 Myriad Genetics, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 1-800-469-7423 FX: 801-584-3615The format and contents of this report are proprietary and may not be copied or used without permission, except for purposes of diagnosing, counseling and treating the patient identifi ed in the report and members of his or her family. Myriad, Myriad myRisk, riskScore, BRACAnalysis, COLARIS, myVision and their respective logos are either trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and other jurisdictions.

RECEIVING HEALTHCARE PROVIDER

Physician Name, MDMyriad Healthcare Partners320 Wakara WaySalt Lake City, UT 84108

SPECIMEN

Specimen Type: BuccalDraw Date: Aug 15, 2017Accession Date: Aug 30, 2017Report Date: Sept 4, 2017

PATIENT

Name: Case Study 4Date of Birth: Jan 1, 1980Patient ID: 0000Gender: FemaleAccession #: 00000000-000Requisition #: 000000ORDERING PHYSICIAN: Physician Name, MD

Details About Non-Clinically Signifi cant 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 identifi ed, variants of uncertain signifi cance (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 signifi cant variant fi ndings be used to modify patient medical management beyond what is indicated by the personal and family history and any other clinically signifi cant fi ndings.

Variant Classifi cation: Myriad’s myVision® Variant Classifi cation Program performs ongoing evaluations of variant classifi cations. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classifi cation. When new evidence about a variant is identifi ed and determined to result in clinical signifi cance and management change, that information will automatically be made available to the healthcare provider through an amended report.

ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED

Myriad myRisk® Hereditary Cancer Test

myRisk Genetic Result

REPORT EXAMPLE

GENE MUTATION INTERPRETATION

MLH1c.133del (p.Thr45Glnfs*5)Heterozygous

HIGH CANCER RISK This patient has Lynch syndrome, Hereditary Non-Polyposis Colon Cancer (HNPCC).

DETAILS ABOUT: MLH1 c.133del (p.Thr45Glnfs*5): NM_000249.3; AKA: 133delA

Functional Signifi cance: Deleterious – Abnormal Protein Production and/or Function The heterozygous germline MLH1 mutation c.133del is predicted to result in the premature truncation of the MLH1 protein at amino acid position 49 (p.Thr45Glnfs*5).

Clinical Signifi cance: High Cancer RiskThis mutation is associated with increased cancer risk and should be regarded as clinically signifi cant.

MYRISK GENETIC RESULT: POSITIVEclinically signifi cant mutation identifi ed

BREAST CANCER RISKSCORE™: REMAINING LIFETIME RISK 23.6%This level of risk is at or above 20% threshold for consideration of modifi ed medical managament. See riskScore™ Interpretation Section for more information.

myRisk Genetic Result: Page 1 of 3

CLINICAL HISTORY ANALYSIS: NO MODIFIED MEDICAL MANAGEMENT GUIDELINES WERE IDENTIFIED BASED ON THE INFORMATION PROVIDED.Other clinical factors may infl uence individualized management. This analysis may be incomplete if details about cancer diagnoses, ages, family relationships or other factors were omitted or ambiguous.

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 POSITIVO. Esto significa que obtuvo un resultado positivo en el estudio de una mutación de uno o más genes. Uno o más de uno de los genes que se trasmiten en su familia presenta una variación o es portador de una mutación genética que aumenta su riesgo de presentar un tipo o más de un tipo de cáncer hereditario. Esta(s) mutación(es) es de RELEVANCIA CLÍNICA y podría ser conveniente realizar cambios en su manejo médico.

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 E.)

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. Si el análisis identificó algún tipo de manejo médico modificado, aparecerá un 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.

B. Su informe le brinda información detallada sobre la mutación genética específica que se detectó y su mayor riesgo de presentar tipos de cáncer asociados. Con esta información, usted y su proveedor de atención médica podrán crear un plan de manejo médico adecuado para usted.

C. Sumado a su resultado positivo, 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

A

C

B

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.

PRIMERA PARTE:

1 Comprender su resultado

Resultado de la prueba genética

Resultado positivo en la prueba de UNA MUTACIÓN ESPECÍFICA: Si un miembro de su familia obtiene un resultado positivo en el estudio de una mutación, es posible que su proveedor le haya indicado que se haga la prueba solamente para esa mutación, a fin de determinar si usted también la tiene. Esto se denomina prueba de una mutación específica. Si obtiene un resultado positivo en la prueba que estudia una mutación específica, usted EFECTIVAMENTE es portador de la mutación que está presente en su familia y debe conversar sobre los cambios necesarios en su manejo médico con su proveedor de atención médica. Debido a que las pruebas de mutaciones específicas no estudian otras mutaciones ni los antecedentes familiares, la información es limitada. Los resultados positivos en las pruebas de una mutación específica incluirán una Herramienta de Manejo myRisk que corresponde ÚNICAMENTE a su mutación genética.

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.

CONFIDENTIAL


Indication for Testing: It is our understanding that this individual was identifi ed for testing due to a personal or family history suggestive of a hereditary predisposition for cancer.

Associated Cancer Risks and Clinical Management: Please see the “myRisk Management Tool” associated with this report for a summary of cancer risk and professional society medical management guidelines that may be useful in developing a plan for this patient based on test results and reported personal/family history, if applicable. Testing of other family members may assist in the interpretation of this patient’s test result.

Analysis Description: The Technical Specifi cations summary (MyriadPro.com/myRisk) describes the analysis, method, performance, nomenclature, and interpretive criteria of this test. The classifi cation and interpretation of all variants identifi ed in this assay refl ects the current state of scientifi c understanding at the time this report was issued, and may change as new scientifi c information becomes available. The interpretation of this test may be impacted if the patient has a hematologic malignancy or an allogeneic bone marrow transplant.

ADDITIONAL INFORMATION

GENES ANALYZED

Unless otherwise noted sequencing and large rearrangement analyses were performed on the following genes:

APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM (large rearrangement only), MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Sequencing was performed for select regions of POLE and POLD1. and large rearrangement analysis was performed for select regions of GREM1 (see technical specifi cations).

**Other genes not analyzed with this test may also be associated with cancer.

Name: Case Study 4 DOB: Jan 1, 1980 Accession #: 00000000-000 Report Date: Sept 4, 2017



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.

CLASSIFICATION DISCLAIMER


CONFIDENTIAL

Breast Cancer riskScore™ - Remaining Lifetime Risk

General Population

This Patient

3530 40 45 >502520151050

20% Risk Threshold

13.1%

23.6%RESULT: 23.6% Remaining Lifetime Risk for Breast Cancer

0.8% 5-Year Risk for Breast Cancer

Breast Cancer riskScore™

23.6%

These test results should only be used in conjunction with the patient’s clinical history and any previous analysis of appropriate family members. The patient’s clinical history and test results should not be disclosed to a third party, unless related to treatment or payment for treatment, without the patient’s express written authorization. It is strongly recommended that these results be communicated to the patient in a setting that includes appropriate counseling. This test was developed and its performance characteristics determined by Myriad Genetic Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that clearance or approval for laboratory-developed tests is not required.

This Authorized Signature pertains to this laboratory report:

Benjamin B. Roa, PhDDiplomate ABMGLaboratory Director

Richard J. Wenstrup, MDDiplomate ABMGChief Medical Offi cer

Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result.




Average Risk Above Average Risk


BREAST CANCER RISKSCORE™ INTERPRETATION

The breast cancer riskScore™ provides an estimate of the remaining lifetime risk for breast cancer. A risk estimate greater than 20% is associated with specifi c modifi ed 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 modifi ed medical management based on other clinical factors or estimates from other breast cancer risk models, such as Tyrer-Cuzick, Claus, and Gail.

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 Specifi cations summary (https://www.myriadpro.com/documents-and-forms/technical-specifi cations/) 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 signifi cantly affect the provided breast cancer risk estimates.

CONFIDENTIAL



Clinical & Cancer Family History Information

PERSONAL / FAMILY CANCER HISTORY SUMMARY*

FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS

Patient None - -

Mother Colon 52

Maternal Aunt Ovarian 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 qualifi ed healthcare provider on the Test Request Form and other documents, and was not verifi ed 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 Specifi cations for Personal/Family History Analysis at https://new.myriadpro.com/documents-and-forms/technical-specifi cations/.

PATIENT CLINICAL HISTORY SUMMARY

Woman’s age 37 Hormone Replacement Therapy (HRT) No

Ancestry White/Non-hispanic - HRT: Treatment type N/A

Height 5’ 5” - HRT: Current user No

Weight 135 lbs. - Number of years ago started N/A

Age of menarche 12 - Additional years of intended use N/A

Patient’s menopausal status Pre-menopausal - HRT: Past user No

- Age of onset N/A - Number of years ago ended N/A

Age of fi rst live birth 24 Breast biopsy No

Clinical & Family History Information: Page 1 of 1

D. Puede consultar una lista de todos los genes examinados en la sección Genes analizados.

E. Si se realizó el riskScore™, esta página de su 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.

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.

F. 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.

D


CONFIDENTIAL

Breast Cancer riskScore™ - Remaining Lifetime Risk

General Population

This Patient

3530 40 45 >502520151050

20% Risk Threshold

13.1%

23.6%RESULT: 23.6% Remaining Lifetime Risk for Breast Cancer

0.8% 5-Year Risk for Breast Cancer


23.6%

These test results should only be used in conjunction with the patient’s clinical history and any previous analysis of appropriate family members. The patient’s clinical history and test results should not be disclosed to a third party, unless related to treatment or payment for treatment, without the patient’s express written authorization. It is strongly recommended that these results be communicated to the patient in a setting that includes appropriate counseling. This test was developed and its performance characteristics determined by Myriad Genetic Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that clearance or approval for laboratory-developed tests is not required.

This Authorized Signature pertains to this laboratory report:

Benjamin B. Roa, PhDDiplomate ABMGLaboratory Director

Richard J. Wenstrup, MDDiplomate ABMGChief Medical Offi cer

Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result.




Average Risk Above Average Risk


BREAST CANCER RISKSCORE™ INTERPRETATION

The breast cancer riskScore™ provides an estimate of the remaining lifetime risk for breast cancer. A risk estimate greater than 20% is associated with specifi c modifi ed 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 modifi ed medical management based on other clinical factors or estimates from other breast cancer risk models, such as Tyrer-Cuzick, Claus, and Gail.

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 Specifi cations summary (https://www.myriadpro.com/documents-and-forms/technical-specifi cations/) 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 signifi cantly affect the provided breast cancer risk estimates.

E

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) 469-7423 x3850 / [email protected]

CONFIDENTIAL



Clinical & Cancer Family History Information

PERSONAL / FAMILY CANCER HISTORY SUMMARY*

FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS

Patient None - -

Mother Colon 52

Maternal Aunt Ovarian 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 qualifi ed healthcare provider on the Test Request Form and other documents, and was not verifi ed 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 Specifi cations for Personal/Family History Analysis at https://new.myriadpro.com/documents-and-forms/technical-specifi cations/.

PATIENT CLINICAL HISTORY SUMMARY

Woman’s age 37 Hormone Replacement Therapy (HRT) No

Ancestry White/Non-hispanic - HRT: Treatment type N/A

Height 5’ 5” - HRT: Current user No

Weight 135 lbs. - Number of years ago started N/A

Age of menarche 12 - Additional years of intended use N/A

Patient’s menopausal status Pre-menopausal - HRT: Past user No

- Age of onset N/A - Number of years ago ended N/A

Age of fi rst live birth 24 Breast biopsy No

Clinical & Family History Information: Page 1 of 1

F

CONFIDENTIAL


CONFIDENTIAL

Myriad myRisk® Hereditary Cancer Test

myRisk Management Tool

GENE MUTATION

MLH1 c.133del (p.Thr45Glnfs*5)

THIS GENETIC TEST RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS:

HIGH RISK: Gastric, Colorectal, Endometrial, Ovarian

ELEVATED RISK: Pancreatic

GENETIC TEST RESULTS SUMMARY INFORMATION

BREAST CANCER RISKSCORE ™

at or above 20%

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: 11.5% 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 fi elds 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, http://www.ems-trials.org/riskevaluator.

myRisk Management Tool: Page 1 of 7

RECEIVING HEALTHCARE PROVIDER

Physician Name, MDMyriad Healthcare Partners320 Wakara WaySalt Lake City, UT 84108

SPECIMEN

Specimen Type: BuccalDraw Date: Aug 15, 2017Accession Date: Aug 30, 2017Report Date: Sept 4, 2017

PATIENT

Name: Case Study 4Date of Birth: Jan 1, 1980Patient ID: 0000Gender: FemaleAccession #: 00000000-000Requisition #: 000000ORDERING PHYSICIAN: Physician Name, MD

MYRISK GENETIC RESULT: POSITIVEclinically signifi cant mutation identifi ed

BREAST CANCER RISKSCORE™: REMAINING LIFETIME RISK 23.6%This level of risk is at or above 20% threshold for consideration of modifi ed medical managament. See riskScore™ Interpretation Section for more information.

CLINICAL HISTORY ANALYSIS: NO MODIFIED MEDICAL MANAGEMENT GUIDELINES WERE IDENTIFIED BASED ON THE INFORMATION PROVIDED.Other clinical factors may infl uence individualized management. This analysis may be incomplete if details about cancer diagnoses, ages, family relationships or other factors were omitted or ambiguous.

CONFIDENTIAL


CANCER TYPE CANCER RISKRISK FOR

GENERAL POPULATIONRELATED TO

SEBACEOUS NEOPLASMS

To age 70 1%-9% <1.0% MLH1

SMALL BOWEL

To age 70 3%-6% 0.1% MLH1

GASTRIC

To age 70 6%-13% 0.3% MLH1

COLORECTAL

To age 70 52%-82% 1.9% MLH1

ENDOMETRIAL

To age 70 25%-60% 1.6% MLH1

OVARIAN

To age 70 4%-12% 0.7% MLH1

HEPATOBILIARY TRACT

To age 70 1.4%-4% 0.4% MLH1

PANCREATIC

To age 70 1%-6% 0.5% MLH1

CENTRAL NERVOUS SYSTEM

To age 70 1%-3% 0.4% MLH1

URINARY TRACT

To age 70 1%-7% <1.0% MLH1

BREAST CANCER

To age 85 23.6% 13% riskScore™

WHAT ARE THE PATIENT’S GENE-RELATED CANCER RISKS?If more than one gene mutation increases a specifi c cancer risk (e.g., breast), only the highest cancer risk is shown. If this patient has more than one gene mutation, risk estimates may be different, as this analysis does not account for possible interactions between gene mutations.


myRisk Medical Management


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, debe conversar sobre los posibles factores de riesgo adicionales con su proveedor.

G. Tipos de cáncer asociados con su resultado positivo en la prueba myRisk Genetic Result. La parte superior de este informe indica que el resultado de su prueba genética es: POSITIVO. Puede consultar los riesgos de cáncer relacionados con su prueba myRisk Genetic Result en una tabla de riesgos de cáncer específicos asociados a su mutación genética. Esta tabla podría incluir intervalos de riesgo para estos tipos de cáncer en comparación con la población general (ver J.)

Los tipos de cáncer en esta tabla podrían figurar en rojo o naranja. El color rojo indica que el aumento del riesgo es significativamente superior al de la población general. El color naranja indica que el riesgo es elevado y es posible que no se conozca un porcentaje exacto en este momento.

H. Podría recibir un 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. Es importante señalar que si su mutación genética conlleva un riesgo aumentado de cáncer de mama, su riesgo de cáncer de mama se definirá solo por el resultado de su prueba myRisk Genetic Result. Sin embargo, en caso de que se desconozca si su mutación genética conlleva un riesgo de cáncer de mama, su proveedor podría usar riskScore para comprender su riesgo de cáncer de mama. 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.

I. 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.

G

H

I

SEGUNDA PARTE:

2 Comprender sus riesgos

Herramienta de Manejo myRisk

J

CONFIDENTIAL


PROCEDURE AGE TO BEGINFREQUENCY

(Unless otherwise indicated by fi ndings)

RELATED TO

SEBACEOUS NEOPLASMS

Currently there are no specifi c medical management guidelines for sebaceous neoplasm risk. NA NA MLH1

SMALL BOWEL

Consider upper endoscopy and/or capsule endoscopy.1 30 to 35 years Every 2 to 3 years MLH1

GASTRIC

Consider risk-reducing mastectomy1 30 to 35 years Every 2 to 3 years MLH1

COLORECTAL

Consider options for ovarian cancer chemoprevention (i.e., oral contraceptives)1

20 to 25 years, or individualized to a younger age based on the earliest

diagnosis in familyEvery 1 to 2 years MLH1

URINARY TRACT

Consider urinalysis. 30 to 35 years Annually MLH1

HEPATOBILIARY TRACT

Currently there are no specifi c medical management guidelines for hepatobiliary cancer risk NA NA MLH1

PANCREATIC

Consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in the screening for pancreatic cancer, preferably within research protocols.2

Individualized NA MLH1




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 specifi c 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 modifi cation 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 fi ndings 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.

CONFIDENTIAL


CANCER RISK FOR MLH1 CLINICALLY SIGNIFICANT MUTATION

CANCER TYPE CANCER RISK RISK FOR GENERAL POPULATION

FOR FEMALE RELATIVES

OVARIAN

To age 70 4%-12% 0.7%

ENDOMETRIAL

To age 70 25%-60% 1.6%

FOR FEMALE AND MALE RELATIVES

SEBACEOUS NEOPLASMS

To age 70 1%-9% <0.1%

SMALL BOWEL

To age 70 3%-6% 0.1%

URETER/RENAL PELVIS

To age 70 1%-4% <1.0%

GASTRIC

To age 70 6%-13% 0.3%

HEPATOBILIARY TRACT

To age 70 1.4%-4% 0.4%

PANCREATIC

To age 70 1%-6% 0.5%

COLORECTAL

To age 70 52%-82% 1.9%

CENTRAL NERVOUS SYSTEM

To age 70 1%-3% 0.4%

Please contact Myriad Professional Support at 1-800-469-7423 to discuss any questions regarding this result.

END OF MYRISK MANAGEMENT TOOL.




INFORMATION FOR FAMILY MEMBERSFamily members should talk to their healthcare providers about hereditary cancer testing to help defi ne their own risk and assist in the interpretation of this patient’s genetic test results.

• This patient’s relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

• Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers, and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance for carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefi t from surveillance and early intervention. More resources for family testing are available at MySupport360.com.

• This patient has an estimated remaining lifetime risk of breast cancer greater than 20% based on riskScore™, which includes both genetic and non-genetic factors that may be shared within the family. Female relatives of this patient may also be at a signifi cantly increased risk for breast cancer and should consult with a healthcare provider to discuss their own risk.

Es importante que comparta con su familia la información sobre los resultados de sus pruebas. Quizás sus familiares deseen conversar con un proveedor de atención médica acerca de cómo esto los afecta y sobre la posibilidad de hacerse pruebas genéticas. La Herramienta de Manejo Médico muestra niveles de riesgo asociados con su mutación genética que afectan a sus familiares.

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.

K

Manejo médico

Información para familiaresTERCERA PARTE:3Dado que su prueba detectó una mutación genética, sus familiares podrían evaluar la posibilidad de hacerse las pruebas genéticas.

K. La Herramienta de Manejo 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 cuatro 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. También podría analizarse la posibilidad de implementar medidas quirúrgicas.

4. 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.

Notas

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Su proveedor de atención médica es siempre su principal recurso. También lo invitamos a visitar www.mySupport360.com, 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 1-800-469-7423 interno 3850 para conversar con un asesor genético.

Recursos

Pasos siguientes

APOYO PARA PACIENTES

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

Consultar a un asesor genético sobre el resultado de su prueba y sus antecedentes familiares

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:

Pruebas genéticas para el cáncer hereditario proporcionadas por: Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108

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. MRHCPOSPETSP / 7-17

Documents

Comprender su - s3.amazonaws.comResult+PE… · Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result. myRisk Genetic Result: