GUÍA DEL PROVEEDOR DE ATENCIÓN MÉDICA

Informe de la Prueba Myriad myRisk™ Cómo usar el informe para lograr resultados claros, accionables y que sirvan como guía

Impulsado por

Conocimiento preciso sobre los riesgos de cáncer. Orientación accionable para el manejo de los pacientes. La prueba myRisk™ de Myriad: • Evalúa un gran número de síndromes de cáncer hereditario • Combina los resultados del perfil genético con los antecedentes familiares y personales de cáncer para un seguimiento claro y accionable • Incluye recomendaciones de manejo para pacientes con resultados positivos o negativos basados en pautas establecidas por la sociedad médica, como la National Comprehensive Cancer Network (NCCN), la International Cancer of the Pancreas Screening (CAPS), el modelo de Claus para valoración del riesgo, los criterios de Amsterdan, entre otros • Se centra en ocho tipos de cáncer pasibles de tratamiento médico, lo que incluye cáncer de mama, colorrectal, gástrico, de endometrio, de páncreas, de próstata y melanoma

El informe de la prueba consiste en: • Resultado Genético myRisk • Herramienta de Manejo myRisk

2

Esquema de resultados: Estudio de caso Información sobre la paciente • Mujer de 36 años de edad • Alerta de riesgo por antecedentes familiares y personales de cáncer

Visita • Conversación sobre el manejo

C O N F I D EN T I A L CONF IDE NT IAL

myRisk Management Tool

Associated with:

Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer

Name: Patient Name

DOB: Jan 12, 1970

Accession #: 00001144-BLD

myRisk Genetic Result

Herramienta de Manejo myRisk Report Date: Jun 30, 2014

OVERVIEW

C O N F ID E N T IA L

RE C E I V IN G HEALTHC AR E P R OV IDE R

PAT I E N T

SPE CI M E N

Hereditary Breast and Ovarian Cancer Syndrome (HBOC): 

Physician Name, MD Specimen Type: Buccal • Healthcare This patient has been found to have mutation Jun in the BRCA1 Myriad Partners Draw aDate: 8, 2014 320 Wakara Way Accession Date: Jun 9, 2014 Hereditary Breast and Ovarian Cancer syndrome (HBOC). Salt Lake City, UT 84108 Report Date: Jun 30, 2014

Name:

Patient Name

Patient ID: Gender:

1144 Female

Name: Patient Name

Associated with:

DOB: Jan 12, 1970

Accession #: 00001144-BLD

Report Date: Jun 30, 2014

gene. Individuals withJan mutations Date of Birth: 12, 1970 in BRCA1 have a condition called

Resultado Genético myRisk

•

myRisk Management Tool

INFORMATION ON HOW CANCER RISKS AND MANAGEMENT ARE DETERMINED The myRisk Management Tool provides cancer risk levels based on analysis of genetic test results (see Genetic Test Report) and management

Women with HBOC have a high risk for developing breast and ovarian Accession cancer. There are also high risks for recommendations fallopian tube andof genetic test results and personal /family cancer history. Additional details can be found on based on acancer combined analysis #: 00001144-BLD www.MyriadPro.com. primary peritoneal cancer. Requisition #: 000000 O R D E R IN G P HY S IC IAN : Physician Name, MD • A comprehensive risk assessment may include other aspects of the patient’s personal/family medical history, as well as lifestyle, environment and other factors.

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Men with HBOC due to mutations in BRCA1 have an elevated risk for breast and prostate cancer. The increased for prostate • Changesrisk in personal/family history or additional data regarding specific genes/mutations may affect the cancer risk estimates and management recommendations within this report. Personal/family history should be updated with a healthcare provider on a regular cancerRESULT: may be POSITIVE—CLINICALLY most significant at younger ages. basis. SIGNIFICANT MUTATION IDENTIFIED

•

Male and patients with HBOC due to inmutations anthat elevated risk for pancreatic cancer.and prostate cancers. African-American ethnicity, as reported on the test request form, was used in assessment for prostate cancer Note:female “CLINICALLY SIGNIFICANT, ” as defined this report,in is BRCA1 a genetichave change is associated with the

•

•

Management recommendations are provided for personal/family history of colorectal adenomas, breast, colorectal, melanoma, pancreatic management. Cancer risks and related management are included based on the gender provided.

potential to alter medical intervention.

Patients who have a clinical diagnosis of a genetic cancer syndrome (i.e., Hereditary Breast and Ovarian Cancer syndrome, Lynch Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing syndrome, etc.) may have different management recommendations than provided. Management should be personalized based on all known clinical diagnoses. risks. Guidelines from the NationalINTERPRETATION Comprehensive Cancer Network (NCCN) for the medical management of patients GENE many of these MUTATION • The Genetic Test Result Summary includes: female breast, male breast, colorectal, endometrial, gastric, melanoma, ovarian, pancreatic, and prostate cancer. In this summary with HBOC are listed below. It is recommended that patients with BRCA1 mutations and a diagnosis of HBOC be managed by aagene associated cancer risk is described as “High Risk” for a cancer type if all of the following conditions are met: the absolute cancer risk is 2% or higher, the increase in cancer risk over the general population is 3-fold or higher, and HIGH CANCER RISK c.68_69del (p.Glu23Valfs*17) there is substantive evidence supporting the cancer risk range. A gene is described as “Elevated Risk” for a cancer type if there are and of theand cancers with HBOC. This patient hastreatment Hereditary Breast Ovarianassociated Cancer (HBOC) BRCA1 multidisciplinary team with experience in the prevention

Heterozygous

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sufficient data to support an increase in cancer risk over the general population risk, but not all criterion for “High Risk” are met.

syndrome.

DETAILS ABOUT: BRCA1 c.68_69del (p.Glu23Valfs*17): NM_007294.3; AKA: 187delAG

WHAT ARE THE PATIENT’S GENE-RELATED CANCER RISKS?

INFORMATION FOR FAMILY MEMBERS

Functional Significance: Deleterious – Abnormal Protein Production and/or Function

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This patient’s relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for

femalesIf andthis males who have this/these IfThe more than onegermline gene mutation increases a specific cancer risk (e.g., breast), only the highest cancer riskatis shown. patient hasmutation(s) are provided below. heterozygous BRCA1 mutation c.68_69del is predicted to result in the premature truncation of the BRCA1 protein • Family members should talk to a healthcare provider about genetic testing. Closest relatives such as parents, children, more one gene mutation, risk estimates may be different, as this analysis does not account for possible interactions between amino than acid position 39 (p.Glu23Valfs*17). brothers, and sisters havegene 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 mutations. identify those family members with the family specific mutation(s) who may benefit from surveillance and early intervention. Tools

Clinical Significance: High Cancer Risk This mutation is associated with increased cancer risk and should be regarded as clinically significant.

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

CANCER TYPE

CANCER RISK

to aid in family testing are available at www.MySupport360.com.

RISK FOR GENERAL POPULATION

Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants) and most variants do not increase an individual’s riskBREAST of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign FEMALE variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most To likely do 50 not cause increased cancer risk. Present evidence does not that non-clinically significant variant findings be age Upsuggest to 51% 1.9% used to modify patient medical management beyond what is indicated by the personal and family history and any other significant To age 70 Up to 87% 7 .3% clinical findings. Variant Classification: myVision™ Reclassification Program20% continuously performs ongoing evaluations of variant Second primaryMyriad’s within 5 years of Variant first diagnosis 2.0% classifications. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid OVARIAN in variant classification. When new evidence about a variant is identified, that information will automatically be made available to the healthcare provider through an amended report.

RELATED TO

BRCA1 BRCA1 BRCA1

© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615

To age 50

Up to 23%

0.2%

BRCA1

To age 70

Up to 44%

0.7%

BRCA1

12.7%