LA EVALUACIÓN DE LOS ANTECEDENTES FAMILIARES
DE CÁNCER DE CADA PACIENTE ES ESENCIAL
PARA LA PRESTACIÓN DE UN CUIDADO ÓPTIMO
Presentación de Myriad myRisk
™
Hereditary Cancer
Conocimiento preciso sobre el riesgo de cáncer.
Porque es esencial conocer el riesgo
de cáncer hereditario de sus pacientes
•
Las recomendaciones para el manejo de los pacientes que tienen una mutación genética asociada a un
riesgo de cáncer hereditario son muy diferentes
•
Reduzca la aparición de un primer cáncer primario o un cáncer subsiguiente con una evaluación integral
del riesgo de cáncer hereditario
La Sociedad de Oncología Ginecológica (SGO) reconoce los beneficios
de las pruebas de cáncer hereditario
1
•
Menor costo
•
Eficiencia mejorada
•
Reducción del número de visitas de los pacientes
•
Mayor confianza en los resultados de las pruebas
Presentación de Myriad myRisk
TM
Hereditary Cancer
Conocimiento preciso
•
Un revolucionario panel de pruebas analíticas para
el cáncer hereditario que combina información
genética precisa con antecedentes familiares y
personales de cáncer
Orientación accionable
•
Se ofrecen consideraciones específicas de manejo
basadas en las pautas establecidas por la sociedad
médica tanto para pacientes con resultados
positivos como negativos
Tiempo de entrega de resultados
líder en la industria
La detección de mutaciones aumenta
entre un
40% y un 50% en comparación
con las pruebas para un único síndrome
2,3
•
Las pruebas para un único síndrome podrían no detectar genes importantes potencialmente superpuestos
en los riesgos de cáncer
3
•
Myriad myRisk incluye 25 genes asociados con ocho tipos de cáncer basados en la superposición de la
contribución hereditaria y el síndrome
•
Se analizan genes clínicamente accionables asociados a riesgos de cáncer establecidos
de mama
de ovario
BRCA1/2
PTEN
Ejemplos
TP53
CDKN2A
de endometrio
colorrectal
melanoma
de páncreas
gástrico
de próstata
Cada localización del cáncer se asocia con múltiples
síndromes de cáncer hereditario. El grupo de genes
incluye:
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2,
BRIP1, CDH1, CDKN2A, CDK4, CHEK2, EPCAM, MLH1,
MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN,
RAD51C, RAD51D, SMAD4, STK11 y TP53.
* Las mutaciones genéticas
podrían estar asociadas
con otros tipos de cáncer y
características clínicas.
†
Solo grandes reorganizaciones
Tipos de cáncer asociados*
Genes
de mama
de ovario
colorrectal
de endometrio
melanoma
de páncreas
gástrico
de próstata
otro
BRCA1, BRCA2
MLH1, MSH2,
MSH6, PMS2,
EPCAM
†STK11
APC, BMPR1A,
SMAD4
MUTYH
CDK4, CDKN2A
TP53
PTEN
CDH1
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
CONFIDENTIAL
Name: Patient Name DOB: Jan 12, 1970 Accession #: 00001144-BLD Report Date: Jun 30, 2014
myRisk Management Tool
Associated with:
myRisk Management Tool: Page 2 of 5 OVERVIEW
Hereditary Breast and Ovarian Cancer Syndrome (HBOC):
• This patient has been found to have a mutation in the BRCA1 gene. Individuals with mutations in BRCA1 have a condition called Hereditary Breast and Ovarian Cancer syndrome (HBOC).
• Women with HBOC have a high risk for developing breast and ovarian cancer. There are also high risks for fallopian tube cancer and primary peritoneal cancer.
• Men with HBOC due to mutations in BRCA1 have an elevated risk for breast and prostate cancer. The increased risk for prostate cancer may be most significant at younger ages.
• Male and female patients with HBOC due to mutations in BRCA1 have an elevated risk for pancreatic cancer. • Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing
many of these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) for the medical management of patients with HBOC are listed below. It is recommended that patients with BRCA1 mutations and a diagnosis of HBOC be managed by a multidisciplinary team with experience in the prevention and treatment of the cancers associated with HBOC.
CANCER TYPE CANCER RISK GENERAL POPULATIONRISK FOR RELATED TO FEMALE BREAST
To age 50 Up to 51% 1.9% BRCA1 To age 70 Up to 87% 7.3% BRCA1 Second primary within 5 years of first diagnosis 20% 2.0% BRCA1
OVARIAN
To age 50 Up to 23% 0.2% BRCA1 To age 70 Up to 44% 0.7% BRCA1 Ovarian cancer within 10 years of breast cancer
diagnosis 12.7% <1% BRCA1
PANCREATIC
To age 80 Elevated Risk 1.0% BRCA1
WHAT ARE THE PATIENT’S GENE-RELATED CANCER RISKS?
If more than one gene mutation increases a specific 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.
El informe revolucionario ofrece
recomendaciones para el manejo
de los pacientes basado en los riesgos
de cáncer familiares y genéticos
Todos los informes incluyen
•
Resultado Genético myRisk
•
Herramienta de Manejo myRisk
— Consideraciones para el manejo de los pacientes basadas en las pautas establecidas por la sociedad
médica tanto para pacientes con resultados POSITIVOS como NEGATIVOS
— Las consideraciones de manejo podrían incluir:
—Prueba(s) de detección
más avanzada(s)
—
Medicamento(s) preventivo(s)
—
Procedimiento(s) para reducir el riesgo
—
Consideraciones para la familia
—
Otros cambios en cuanto al manejo
—
Análisis de los antecedentes familiares (National Comprehensive Cancer Network [NCCN], modelo de
Claus, International Cancer of the Pancreas Screening [CAPS], criterios de Amsterdam, y otros)
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615 myRisk Management Tool: Page 1 of 5 CONFIDENTIAL
CONFIDENTIAL
GENE MUTATION BRCA1 c.68_69del (p.Glu23Valfs*17)
THIS GENETIC TEST RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS:
HIGH RISK: Female Breast, Ovarian ELEVATED RISK: Pancreatic RECEIVING HEALTHCARE PROVIDER
Physician Name, MD
Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT 84108
SPECIMEN
Specimen Type: Buccal
Draw Date: Jun 8, 2014
Accession Date:Jun 9, 2014
Report Date: Jun 30, 2014
PATIENT
Name: Patient Name
Date of Birth: Jan 12, 1970
Patient ID: 1144
Gender: Female
Accession #: 00001144-BLD
Requisition #:000000
ORDERING PHYSICIAN: Physician Name, MD
GENETIC TEST RESULTS SUMMARY INFORMATION
PERSONAL / FAMILY HISTORY SUMMARY AND MANAGEMENT INFORMATION
MODIFIED MEDICAL MANAGEMENT MAY BE APPROPRIATE RESULT: POSITIVE—CLINICALLY SIGNIFICANT MUTATION IDENTIFIED Note: “CLINICALLY SIGNIFICANT,” as defined in this report, is a genetic change that is associated with the potential to alter medical intervention.
ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED
FAMILY
MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS
Patient None Mother Breast 45 Maternal Aunt Breast 55
This information was provided by a qualified healthcare provider on the test request form and was not verified by Myriad. Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer
myRisk Management Tool
CONFIDENTIAL
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
RECEIVING HEALTHCARE PROVIDER
Physician Name, MD
Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT 84108
SPECIMEN
Specimen Type: Buccal
Draw Date: Jun 8, 2014
Accession Date:Jun 9, 2014
Report Date: Jun 30, 2014
PATIENT
Name: Patient Name
Date of Birth: Jan 12, 1970
Patient ID: 1144
Gender: Female
Accession #: 00001144-BLD
Requisition #:000000
ORDERING PHYSICIAN: Physician Name, MD
myRisk Genetic Result: Page 1 of 2 RESULT: POSITIVE—CLINICALLY SIGNIFICANT MUTATION IDENTIFIED
Note: “CLINICALLY SIGNIFICANT,” as defined in this report, is a genetic change that is associated with the potential to alter medical intervention.
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 significant clinical findings.
Variant Classification: Myriad’s myVision™ Variant Reclassification Program continuously 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, 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 GENE MUTATION INTERPRETATION
BRCA1 c.68_69del (p.Glu23Valfs*17)Heterozygous HIGH CANCER RISK This patient has Hereditary Breast and Ovarian Cancer (HBOC) syndrome.
DETAILS ABOUT: BRCA1 c.68_69del (p.Glu23Valfs*17): NM_007294.3; AKA: 187delAG Functional Significance: Deleterious – Abnormal Protein Production and/or Function
The heterozygous germline BRCA1 mutation c.68_69del is predicted to result in the premature truncation of the BRCA1 protein at amino acid position 39 (p.Glu23Valfs*17).
Clinical Significance: High Cancer Risk
This mutation is associated with increased cancer risk and should be regarded as clinically significant.
Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer
