Download Informe de la Prueba Myriad myRisk

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.
•
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
•
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
•
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%
<1%
BRCA1
Elevated Risk
1.0%
BRCA1
Ovarian cancer within 10 years of breast cancer
diagnosis
myRisk Management Tool: Page 4 of 5
PANCREATIC
To age 80
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
myRisk Genetic Result: Page 1 of 2
© 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 2 of 5
3
Resultado Genético myRisk
TM
El nuevo y revolucionario informe presenta el Resultado Genético myRisk en primer
lugar seguido de claras consideraciones de manejo conforme las pautas establecidas
CONFIDENTIAL
Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer
myRisk Genetic Result
Los símbolos
y
indican si se ha
identificado una
mutación de
relevancia clínica.
Si el resultado es positivo,
la mutación genética
aparece especificada
con la nomenclatura
correspondiente y se
presenta su importancia
clínica y funcional.
RECEIVING HEALT H CA RE PRO VID E R
SPE CIME N
Physician Name, MD
Myriad Healthcare Partners
320 Wakara Way
Salt Lake City, UT 84108
Specimen Type:
Draw Date:
Accession Date:
Report Date:
PAT IE N T
Buccal
Jun 8, 2014
Jun 9, 2014
Jun 30, 2014
ORDERING PHYSICIA N : Physician Name, MD
Name:
Date of Birth:
Patient ID:
Gender:
Accession #:
Requisition #:
Patient Name
Jan 12, 1970
1144
Female
00001144-BLD
000000
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.
GENE
BRCA1
MUTATION
INTERPRETATION
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.
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 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.
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
4
myRisk Genetic Result: Page 1 of 2
ON
NFFID
IDEEN
NTTIAL
IA L
CCO
Integrated BRAC
BRACAnalysis
Analysis with
with Myriad
Myriad myRisk
myRisk Hereditary
Hereditary Cancer
Cancer
Integrated
®®
™
™
myRisk Genetic Result
RECEIVING HEALTHCARE
HEALTHCARE PROVIDER
PROVIDER
RECEIVING
SPECIMEN
SPECIMEN
Physician Name,
Name, MD
MD
Physician
Myriad Healthcare
Healthcare Partners
Partners
Myriad
320
Wakara
Way
320 Wakara Way
Salt Lake
Lake City,
City, UT
UT 84108
84108
Salt
Specimen Type:
Type:
Specimen
Draw Date:
Date:
Draw
Accession
Date:
Accession Date:
Report Date:
Date:
Report
PATIENTT
PATIEN
Buccal
Buccal
Jun 8,
8, 2014
2014
Jun
Jun 9,
9, 2014
2014
Jun
Jun 30,
30, 2014
2014
Jun
ORDERING PHYSICIAN:
PHYSICIAN: Physician
Physician Name,
Name, MD
MD
ORDERING
Name:
Name:
Date of
of Birth:
Birth:
Date
Patient ID:
ID:
Patient
Gender:
Gender:
Accession #:
#:
Accession
Requisition #:
#:
Requisition
Patient Name
Name
Patient
Jan 12,
12, 1980
1980
Jan
1144
1144
Female
Female
00001144-BLD
00001144-BLD
000000
000000
RESULT: NEGATIVE
NEGATIVE // NO
NO CLINICALLY
CLINICALLY SIGNIFICANT
SIGNIFICANT MUTATION
MUTATION IDENTIFIED
IDENTIFIED
RESULT:
Note: “CLINICALLY
“CLINICALLY SIGNIFICANT,”
SIGNIFICANT,” as
as defined
defined in
in this
this report,
report, is
is aa genetic
genetic change
change that
that is
is associated
associated with
with the
the
Note:
potential to
to alter
alter medical
medical intervention.
intervention.
potential
ADDITIONAL FINDINGS:
FINDINGS: VARIANT(S)
VARIANT(S) OF
OF UNCERTAIN
UNCERTAIN SIGNIFICANCE
SIGNIFICANCE (VUS)
(VUS) IDENTIFIED
IDENTIFIED
ADDITIONAL
GENE
GENE
VARIANT(S) OF
OF UNCERTAIN
UNCERTAIN SIGNIFICANCE
SIGNIFICANCE
VARIANT(S)
INTERPRETATION
INTERPRETATION
PALB2
PALB2
T1099K (3296C>A)
(3296C>A)
T1099K
UNCERTAIN CLINICAL
CLINICAL SIGNIFICANCE
SIGNIFICANCE
UNCERTAIN
There are
are currently
currently insufficient
insufficient data
data to
to determine
determine ifif
There
these variants
variants cause
cause increased
increased cancer
cancer risk
risk
these
Details About
About Non-Clinically
Non-Clinically Significant
Significant Variants:
Variants: All
All individuals
individuals carry
carry DNA
DNA changes
changes (i.e.,
(i.e., variants)
variants) and
and most
most variants
variants do
do not
not increase
increase
Details
an individual’s
individual’s risk
risk of
of cancer
cancer or
or other
other diseases.
diseases. When
When identified,
identified, variants
variants of
of uncertain
uncertain significance
significance (VUS)
(VUS) are
are reported.
reported. Likely
Likely benign
benign
an
variants (Favor
(Favor Polymorphisms)
Polymorphisms) and
and benign
benign variants
variants (Polymorphisms)
(Polymorphisms) are
are not
not reported
reported and
and available
available data
data indicate
indicate that
that these
these variants
variants
variants
most likely
likely do
do not
not cause
cause increased
increased cancer
cancer risk.
risk. Present
Present evidence
evidence does
does not
not suggest
suggest that
that non-clinically
non-clinically significant
significant variant
variant findings
findings be
be
most
used to
to modify
modify patient
patient medical
medical management
management beyond
beyond what
what isis indicated
indicated by
by the
the personal
personal and
and family
family history
history and
and any
any other
other significant
significant
used
clinical
findings.
clinical findings.
Variant Classification:
Classification: Myriad’s
Myriad’s myVision™
myVision™ Variant
Variant Reclassification
Reclassification Program
Program continuously
continuously performs
performs ongoing
ongoing evaluations
evaluations of
of variant
variant
Variant
classifications. In
In certain
certain cases,
cases, healthcare
healthcare providers
providers may
may be
be contacted
contacted for
for more
more clinical
clinical information
information or
or to
to arrange
arrange family
family testing
testing to
to aid
aid
classifications.
in variant
variant classification.
classification. When
When new
new evidence
evidence about
about aa variant
variant isis identified,
identified, that
that information
information will
will automatically
automatically be
be made
made available
available to
to the
the
in
healthcare provider
provider through
through an
an amended
amended report.
report.
healthcare
ADDITIONAL INFORMATION
INFORMATION
ADDITIONAL
GENES ANALYZED*
ANALYZED*
GENES
APC
APC
ATM
ATM
CDKN2A11
CDKN2A
CHEK2
CHEK2
PMS2
PMS2
PTEN
PTEN
BARD1
BARD1
BMPR1A
BMPR1A
EPCAM
EPCAM
MLH1
MLH1
TP53
TP53
RAD51C
RAD51C
BRCA1
BRCA1
BRCA2
BRCA2
MSH2
MSH2
MSH6
MSH6
RAD51D
RAD51D
SMAD4
SMAD4
BRIP1
BRIP1
CDH1
CDH1
MUTYH
MUTYH
NBN
NBN
STK11
STK11
CDK4
CDK4
PALB2
PALB2
22
Unlessotherwise
otherwisenoted
notedsequencing
sequencingand
andlarge
large
Unless
rearrangementanalyses
analyseswere
wereperformed
performedon
onthe
theabove
above
rearrangement
genes.Other
Othergenes
genesnot
notanalyzed
analyzedwith
withthis
thistest
testmay
mayalso
also
genes.
Analysisof
ofp16INK4a
p16INK4aand
and
beassociated
associatedwith
withcancer.
cancer.11Analysis
be
Largerearrangement
rearrangementonly.
only.
p14ARF.22Large
p14ARF.
Incluye información sobre
la presencia de variantes
genéticas de importancia
incierta que no se
consideran clínicamente
significativas.
Cuando surjan nuevos
datos sobre una variante,
el proveedor de atención
médica recibirá un informe
enmendado que incluirá la
información actualizada.
Indication for
for Testing:
Testing: ItIt isis our
our understanding
understanding that
that this
this individual
individual was
was identified
identified for
for testing
testing
Indication
due to
to aa personal
personal or
or family
family history
history suggestive
suggestive of
of aa hereditary
hereditary predisposition
predisposition for
for cancer.
cancer.
due
Associated Cancer
Cancer Risks
Risks and
and Clinical
Clinical Management:
Management: Please
Please see
see the
the “Cancer
“Cancer Risk
Risk and
and
Associated
Management Tool”
Tool” associated
associated with
with this
this report
report for
for aa summary
summary of
of cancer
cancer risk
risk and
and professional
professional
Management
society medical
medical management
management guidelines
guidelines that
that may
may be
be useful
useful in
in developing
developing aa plan
plan for
for this
this
society
patient based
based on
on test
test results
results and
and reported
reported personal
personal and/or
and/or family
family history,
history, ifif applicable.
applicable. Testing
Testing
patient
of other
other family
family members
members may
may assist
assist in
in the
the interpretation
interpretation of
of this
this patient’s
patient’s test
test result.
result.
of
Analysis Description:
Description: The
The Technical
Technical Specifications
Specifications summary
summary (www.MyriadPro.com)
(www.MyriadPro.com)
Analysis
describes the
the analysis,
analysis, method,
method, performance,
performance, nomenclature,
nomenclature, and
and interpretive
interpretive criteria
criteria of
of this
this
describes
test. *The
*The classification
classification and
and interpretation
interpretation of
of all
all variants
variants identified
identified in
in this
this assay
assay reflects
reflects the
the
test.
current
state
of
scientific
understanding
at
the
time
this
report
was
issued,
and
may
change
as
current state of scientific understanding at the time this report was issued, and may change as
new scientific
scientific information
information becomes
becomes available.
available.
new
Please contact
contact Myriad
Myriad Professional
Professional Support
Support at
at 1-800-469-7423
1-800-469-7423
Please
to discuss
discuss any
any questions
questions regarding
regarding this
this result.
result.
to
2014,Myriad
MyriadGenetic
GeneticLaboratories,
Laboratories,Inc.
Inc. | | 320
320Wakara
WakaraWay,
Way,Salt
SaltLake
LakeCity,
City,Utah
Utah84108
84108 | | PH:
PH:800-469-7423
800-469-7423 FX:
FX:801-584-3615
801-584-3615
©©2014,
Page11of
of22
myRiskGenetic
GeneticResult:
Result:Page
myRisk
Las variantes genéticas de importancia incierta no son actualmente accionables;
la evidencia disponible no sugiere que estas variantes deban usarse para cambiar
el manejo médico del paciente.
Las variantes, Indica Polimorfismo/ Polimorfismo son variantes genéticas para
las cuales los datos disponibles indican que es muy poco probable que alteren la
producción y/o la función de las proteínas o que contribuyan de modo significativo
al riesgo de cáncer. No se incluye información sobre este tipo de variantes.
5
Positivo:
Herramienta de Manejo myRisk
C O N F I DE N T I AL
Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer
myRisk Management Tool
RECEIVING HEA LTH C A R E P R O V I D ER
S P EC I MEN
Physician Name, MD
Myriad Healthcare Partners
320 Wakara Way
Salt Lake City, UT 84108
Specimen Type:
Draw Date:
Accession Date:
Report Date:
PATI ENT
Name:
Date of Birth:
Patient ID:
Gender:
Accession #:
Requisition #:
Buccal
Jun 8, 2014
Jun 9, 2014
Jun 30, 2014
ORDERING PHYS I C I A N: Physician Name, MD
Patient Name
Jan 12, 1970
1144
Female
00001144-BLD
000000
GENETIC TEST RESULTS SUMMARY INFORMATION
RESULT: POSITIVE—CLINICALLY SIGNIFICANT MUTATION IDENTIFIED
Los pacientes recibirán
una visión sintética de los
resultados genéticos y los
niveles de riesgo de cáncer
asociados para
ocho tipos de cáncer.
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
GENE
T H I S G E NE T I C T E ST RE SU LT I S A SSO CI AT E D WITH THE
FO LLO WI NG CA NCE R RI SKS:
MU TAT I O N
BRCA1
c.68_69del (p.Glu23Valfs*17)
HIGH RISK: Female Breast, Ovarian
ELEVATED RISK: Pancreatic
Los antecedentes
personales y/o familiares
suministrados se emplean
para la evaluación
del riesgo basado en
antecedentes familiares.
El símbolo
en el
recuadro naranja indica
que algo requiere atención
por parte del proveedor de
atención médica. Si corresponde,
se brinda información
sobre manejo modificado
en las páginas subsiguientes.
PERSONAL / FAMILY HISTORY SUMMARY AND MANAGEMENT INFORMATION
FAM ILY
M EM BER
CA NCE R / CLI NI CA L
D I A G NO SI S
A G E AT
D I A G NO SI S
Patient
None
Mother
Breast
45
Maternal Aunt
Breast
55
MODIFIED MEDICAL MANAGEMENT
MAY BE APPROPRIATE
This information was provided by a qualified healthcare provider
on the test request form and was not verified by Myriad.
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
6
myRisk Management Tool: Page 1 of 5
En informes con un resultado positivo, la Herramienta de Manejo myRisk
combina la información genética con los antecedentes familiares para
ofrecer consideraciones de manejo basadas en las pautas generales
Herramienta de
Manejo basada en
pautas generales
CO N FI D E N T I A L
myRisk Management Tool
Name: Patient Name
Associated with:
DOB: Jan 12, 1970
Accession #: 00001144-BLD
Report Date: Jun 30, 2014
CO N FI D E N T I A L
WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED?
myRisk Management Tool
Associated
with:and genetic test results. Unless otherwise stated,
Clinical management guidelines are based on this patient’s personal and
family history
management guidelines included below are limited to those issued by the National Comprehensive Cancer Network (NCCN). See the
Name: Patient Name
DOB: Jan 12, 1970
Accession #: 00001144-BLD
Report Date: Jun 30, 2014
reference listed for more details. If management for a specific cancer (e.g., breast) is available due to multiple causes (e.g., a mutation
and a family history, or multiple mutations in different genes), only the most aggressive management
isFI
shown.
related to
CO N
D E NGuidelines
TIAL
the patient’s long-term care for cancer prevention are included. Guidelines for the treatment of an existing cancer are not included. Any
OVERVIEW
discussion of medical management options is for general informational purposes only and does
not constitute
Associated
with: a recommendation. While
Hereditary
Breastguidelines
and Ovarian
Cancer
Syndrome
(HBOC): genetic testing and
medical society
provide
important
and useful
information, medical management decisions should be made
in consultation between
each
patient
and
his
or
her
healthcare
provider.
Name:
Patient
Name
DOB:
Jan
12,
1970
Accession
#: 00001144-BLD
Report Date: Jun 30, 2014
•
This patient has been found to have a mutation in the BRCA1 gene. Individuals with mutations
in BRCA1
have a condition called
myRisk Management Tool
Hereditary Breast and Ovarian Cancer syndrome (HBOC).
•
PROCEDURE
Women with HBOC have a high risk for developing breast and ovarian cancer. There
F R Eare
Q U Ealso
N C Yhigh risks for fallopian tube cancer and
primary peritoneal cancer.
AGE TO BEGIN
(Unless otherwise
R E L AT E D T O
indicated
by findings)
Men with HBOC
due to mutations
in BRCA1
haveCLINICALLY
an elevated risk
for breast and
prostate
cancer. The increased risk for prostate
CANCER
RISK FOR
BRCA1
SIGNIFICANT
MUTATION
cancer may be most significant at younger ages.
FEMALE BREAST
• Women
Male and
female
with
due to mutations in BRCA1 have an elevatedCrisk
cancer. R I S K F O R G E N E R A L P O P U L AT IO N
Breast awarenessshould
be patients
familiar
C
A N C E Rwith
T Y PHBOC
E
A N for
C E Rpancreatic
RISK
their breasts and
report
changes
tocancer
their risks for patients with HBOC, there are interventions that have been shown to be effective at reducing
• promptly
Although
there
are high
18 years
NA
BRCA1
healthcare provider. many
Periodic,
consistent
self- from the National Comprehensive Cancer
of these
risks.breast
Guidelines
forI Vthe
F ONetwork
R F E M A L(NCCN)
E R E L AT
E S medical management of patients
examination (BSE) may
breast
awareness
withfacilitate
HBOC are
listed
below. It1is recommended that patients with BRCA1 mutations and a diagnosis of HBOC be managed by a
FEMALE BREAST
and treatment of the
cancers
Clinical breast exam1multidisciplinary team with experience in the prevention
25 years
Every
6 toassociated
12 monthswith HBOC.
BRCA1
•
Las recomendaciones
para el manejo clínico
provienen de la National
Comprehensive Cancer
Network (NCCN) así
como de otros grupos de
consenso y especialidad.
To age 50
25 years, or individualized based on
Mammography and Breast MRI1
earliest diagnosis in family
To age 70
WHAT ARE THE PATIENT’S
GENE-RELATED
CANCER RISKS?
To 5age
70 of first diagnosis
Second primary within
years
VAspecific
RI A N medical management
Currently there areOno
guidelines for pancreatic cancer risk PA N C R E AT I C
To age 50
1.
20%
To age 80
7.3%
BRCA1
8.2%
BRCA1
Elevated Risk
BRCA1
12.7%
<1%
BRCA1
Elevated Risk
1.0%
BRCA1
1%
PA NCR E AT I C
To age 80
Please contact Myriad Professional Support at 1-800-469-7423 to discuss any questions regarding this result.
Notes for Personalized Management:
END OF MYRISK MANAGEMENT TOOL.
© 2014, Myriad Genetic Laboratories, Inc. | 320 Wakara Way, Salt Lake City, Utah 84108 | PH: 800-469-7423 FX: 801-584-3615
Información para la familia
Up to 16%
2.0%
F O R F E M A L E A N D M A L E R E L AT I V E S
NA
NA
BRCA1
Up to 23%
0.2%
To age
70Practice Guidelines in Oncology®: Genetic/Familial High-Risk
Up Assessment:
to 44% Breast and Ovarian. V0.7%
Daly M, et al. NCCN
Clinical
3.2013. June 10.
Available at http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.
Ovarian cancer within 10 years of breast cancer
diagnosis
Aspectos generales
relativos a los genes y el
riesgo de cáncer
1.9%
BRCA1
Consider options for breast cancer chemoprevention
Breast
withina 5specific
years of
First Breast
2%
Individualized
NA20%
BRCA1 If this patient has
If more than one geneSecond
mutation
increases
cancer
risk (e.g., breast), only the highest
cancer risk is shown.
(i.e., tamoxifen)1
more than one gene mutation, risk estimates may be different, as this analysis does not account for possible interactions between gene
O VA R I A N
Individualized
NA
BRCA1
Consider risk-reducing
mastectomy1
mutations.
To age 50
Up to 23%
0.2%
O VA R I A N
To age 70
Up to 44%
0.7%
Consider options for ovarian cancer chemoprevention
Individualized
NA
BRCA1
(i.e., oral contraceptives)1
Ovarian within 10 years after Breast
12.7%
<1%
RISK FOR
CANCER TYPE
CANCER RISK
R E L AT E D T O
ATL AT
I V EI O
SN
35 to 40 years, after completion of FGOERN M
E RAALLE PROEPL U
childbearing, or individualized based
NA
BRCA1
Bilateral salpingo-oophorectomy1
FEMALE BREAST MALE BREAST
on the earliest diagnosis in the family
To age 70
<0.1%
To age 50
Up to 51%
1.9%1.2%
BRCA1
30 years, or individualized based on
Consider transvaginal ultrasound and CA-125
Every 6 months
BRCA1
P R O S TAT E
earliest diagnosis
the family
measurement1
To age 70
Up toin87%
7.3%
BRCA1
PA N C R E AT I C
Los proveedores
pueden indicar otras
consideraciones
personalizadas de manejo
según sea necesario.
Up to 51%
Annually
Up to 87%
myRisk Management Tool: Page 3 of 5
© 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 2 of 5
© 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 5 of 5
No se evalúan los cánceres personales para las consideraciones de riesgo y manejo.
Las consideraciones de manejo médico que se suministran solo pretenden presentar
aspectos generales y se ofrecen con fines informativos. El cuidado efectivo del
paciente es responsabilidad del médico tratante y debe basarse en una cuidadosa
revisión de todos los factores asociados con el paciente así como la consideración
de las referencias aquí mencionadas y otros recursos.
7
Negativo:
Herramienta de Manejo myRisk
CONFIDENTIAL
Integrated BRACAnalysis® with Myriad myRisk™ Hereditary Cancer
myRisk Management Tool
R E C E IV ING HE A LTH CA RE PRO VI D ER
SPECI MEN
Physician Name, MD
Myriad Healthcare Partners
320 Wakara Way
Salt Lake City, UT 84108
Specimen Type:
Draw Date:
Accession Date:
Report Date:
PATI EN T
Buccal
Jun 8, 2014
Jun 9, 2014
Jun 30, 2014
Patient Name
Jan 12, 1980
1144
Female
00001144-BLD
000000
Name:
Date of Birth:
Patient ID:
Gender:
Accession #:
Requisition #:
OR DE R ING P HYSI CI A N : Physician Name, MD
GENETIC TEST RESULTS SUMMARY INFORMATION
Los pacientes recibirán
una visión sintética de los
resultados genéticos y los
niveles de riesgo de cáncer
asociados para los
ocho tipos de cáncer.
RESULT: NEGATIVE / NO 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: VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED
No clinically significant mutations were identified in this patient. However, based on personal/family history, the patient’s
cancer risks may still be increased over the general population. Clinical management should be based upon personal and
family history.
PERSONAL / FAMILY HISTORY SUMMARY AND MANAGEMENT INFORMATION
Los antecedentes
personales y/o familiares
suministrados se emplean
para la evaluación
del riesgo basado en
antecedentes familiares.
El símbolo
en el
casillero naranja indica que
algo requiere atención por
parte del proveedor de
atención médica. Si corresponde,
se incluye información
sobre manejo modificado
en las páginas subsiguientes.
8
FA MILY
MEMB ER
C AN C E R / C LI N I C AL
DI AGN OS I S
AGE AT
DI AGN OS I S
Patient
None
Father
Prostate
42
Paternal Aunt
Breast
31
Maternal Aunt
Endometrial
49
MODIFIED MEDICAL MANAGEMENT
MAY BE APPROPRIATE
This information was provided by a qualified healthcare provider
on the test request form and was not verified by Myriad.
© 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 3
La Herramienta de Manejo myRisk también ayuda a generar conciencia sobre
consideraciones de manejo adicionales para los pacientes con resultados negativos
Herramienta de Manejo
myRisk basada
en pautas generales
CONFIDENTIAL
myRisk Management Tool
Name: Patient Name
Associated with:
DOB: Jan 12, 1980
Accession #: 00001144-BLD
Report Date: Jun 30, 2014
WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED?
Las consideraciones
de manejo para riesgos
familiares son evaluadas
tanto para pacientes con
resultados positivos
como negativos.
Las pautas y criterios
empleados incluyen:
NCCN, CAPS, modelo de
Claus para valoración del
riesgo, (riesgo de >20%
de presentar cáncer
de mama a lo largo de
la vida), criterios de
Amsterdan, entre otros.
Cuando se identifica una
o más de una variante
genética de importancia
incierta el manejo
clínico se basa en los
antecedentes familiares
y/o personales y en otros
factores de riesgo.
Clinical management guidelines are based on this patient’s personal and family history and genetic test results. Unless otherwise stated,
management guidelines included below are limited to those issued by the National Comprehensive Cancer Network (NCCN). See the
reference listed for more details. If management for a specific cancer (e.g., breast) is available due to multiple causes (e.g., a mutation
and a family history, or multiple mutations in different genes), only the most aggressive management is shown. Guidelines related to
the patient’s long-term care for cancer prevention are included. Guidelines for the treatment of an existing cancer are not included. Any
discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While
genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made
in consultation between each patient and his or her healthcare provider.
AGE T O BE GI N
FR E QUE N C Y
(Unless otherwise
indicated by findings)
RE L AT E D T O
Individualized
NA
Family History
(>20% lifetime risk)
Clinical breast exam1,2
30 years
Every 6 to 12
months
Family History
(>20% lifetime risk)
Consider breast MRI in addition to mammography1,2
30 years
Annually
Family History
(>20% lifetime risk)
Individualized
NA
Family History
(>20% lifetime risk)
Individualized
NA
Uncertain Variant(s)
PRO CED U RE
FEMA LE B REA S T
Breast Awareness - Women should be familiar with
their breasts and promptly report changes to their
healthcare provider. Periodic, consistent breast selfexamination (BSE) may facilitate breast awareness1
Consider risk reduction strategies1,2
O TH ER CO N SID E R AT I ON S
One or more Variants of Uncertain Significance
(VUS) were identifed (see myRisk Genetic Result).
Recommend clinical management based on personal
/ family history and other risk factors.
1.
Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer Screening and Diagnosis. V 2.2013. July 3.
Available at http://www.nccn.org/professionals/physician_gls/pdf/breast_risk.pdf.
2.
Claus EB, et al. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 73:643-51. PMID: 8299086.
Notes for Personalized Management:
© 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 2 of 3
No se evalúan los cánceres personales para las consideraciones de riesgo y manejo.
Las consideraciones de manejo médico que se suministran solo pretenden presentar
aspectos generales y se ofrecen con fines informativos. El cuidado efectivo del
paciente es responsabilidad del médico tratante y debe basarse en una cuidadosa
revisión de todos los factores asociados con el paciente así como la consideración
de las referencias aquí mencionadas y otros recursos.
9
Cuadro de genes y
tipos de cáncer asociados
• Se analizan los genes que poseen riesgos de cáncer establecidos y son clínicamente accionables
• L a selección de los genes se centra en ochos tipos de cáncer basados en la superposición de la
contribución hereditaria y el síndrome
Tipos de cáncer asociados*
Genes
de mama
de ovario
colorrectal
de
endometrio
melanoma
de
páncreas
gástrico
BRCA1, BRCA2
MLH1, MSH2,
MSH6, PMS2,
EPCAM†
STK11
APC, BMPR1A,
SMAD4
MUTYH
CDK4, CDKN2A
TP53
PTEN
CDH1
PALB2, ATM
CHEK2
NBN
BARD1
BRIP1, RAD51C
RAD51D
*Las mutaciones genéticas podrían estar asociadas con otros tipos de cáncer y características clínicas.
†
Solo grandes reorganizaciones
10
de
próstata
Otro
Optimice el cuidado de los pacientes
con resultados precisos y confiables
De Myriad, su asesor de confianza
• Líder mundial en cáncer hereditario • Más de 20 años de experiencia en pruebas
genéticas para el cáncer • Más de 1 millón de pacientes evaluados • Más de 60,000
proveedores han elegido las pruebas de Myriad
Desempeño del más alto nivel
Sensibilidad analítica del ~99.92%1*
• Confianza como elpatrón de oro de la calidad
• Los estudios de validación muestran una concordancia del 100% con el método Sanger para la
secuenciación y análisis de las grandes reorganizaciones
Optimización de la prueba
• Diseño optimizado de biblioteca de cebadores NGS para aumentar la sensibilidad y especificidad de
la prueba
• Complementado con múltiples técnicas personalizadas (p. ej. microarreglos específicos)
Impulsado por la tecnología de clasificación
de variantes myVision™
• Compromiso de por vida con la interpretación precisa de las
variantes
• Más de 1 millón de dólares invertidos en el desarrollo de técnicas
de clasificación de variantesy una base de datos curada respaldada
por más de 30 científicos
• Técnicas para la clasificación de variantes validadas y con una
precisión de más del 99% exclusivas de Myriad2,3
*Límite inferior del >99.92% intervalo de confianza del 95%.
1. Roa B, Bowles K, Bhatnagar S, et al. Development of a next generation sequencing panel to assess hereditary cancer risk that includes clinical diagnostic analysis
of the BRCA1 and BRCA2 genes. Poster presented at: American Society of Human Genetics 2013 Annual Meeting, October 22-26, 2013, Boston, MA. 2. Bowles
KR, Morris B, Hughes E, et al. A clinical history weighting algorithm accurately classifies BRCA1 and BRCA2 variants. Poster presented at: American Society of
Human Genetics 2013 Annual Meeting, October 22-26, 2013, Boston, MA. 3. Eggington J, Bowles K, Moyes K, et al. A comprehensive laboratory-based program
for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet. 2013 Nov 8. doi: 10.1111/cge.12315. [Epub ahead of print].
11
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Myriad Genetic Laboratories, Inc.
320 Wakara Way
Salt Lake City, UT 84108
1-800-469-7423
Myriad, el logotipo de Myriad, Myriad myRisk Hereditary Cancer, el logotipo de Myriad myRisk Hereditary Cancer, Myriad Promise, el logotipo de
Myriad Promise, MySupport360 y el logotipo de MySupport360 son marcas comerciales o marcas registradas de Myriad Genetics, Inc. en los Estados
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12
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