CONFIDENTIAL
*52375985*
52375985
Genetic Result - Integrated BRACAnalysis ®
BRCA2
High Cancer Risk
黑咖啡的功效This patient has Hereditary Breast and Ovarian Cancer syndrome (HBOC).色徒
DETAILS ABOUT:: NM_000059.3; (aka: xxxxx)
Functional Significance:Deleterious - Abnormal Protein Production and/or Function
自助者天助The heterozygous germline BRCA2 is predicted to result in the premature truncation of the BRCA2 protein at amino acid position xxxx (p.xxxxx).
Clinical Significance:High Cancer Risk
This mutation is associated with incread cancer risk and should be regarded as clinically significant.
Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants), and most variants do not increa an individual's risk of cancer or other dias. 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 the variants most likely do not cau incread cancer risk. Prent evidence does not suggest that non-clinically significant variant findings be ud to modify patient medical management beyond what is indicated by the personal and family history and any other clinically significant findings.
Variant Classification: Myriad's myVision TM Variant Classification Program performs ongoing evaluations of variant classifications. In certain cas, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classification. When new
evidence about a variant is identified and determined to result in clinical significance and management change, that information will automatically be made available to the healthcare provide
r through an amended report.
Indication for Testing: It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a hereditary predisposition for cancer.
Associated Cancer Risks and Clinical Management: If a clinically significant mutation is identified, plea e the management tool associated with this report for a summary of cancer risk and professional society medical management guidelines that may be
uful in developing a plan for this patient. Testing of other family members may assist in the interpretation of this patient's test result.
Analysis Description: The Technical Specifications summary (/documents-and-forms/technical-specifications/) describes the analysis, method,performance, nomenclature, and interpretive criteria of this test. Current testing
technologies are unable to definitively determine whether a variant is germline or somatic in origin, which may significantly impact risk estimates and medical management;therefore, the results shou年龄大了
ld be correlated with this patient's personal and family history. The interpretation of this test may also be impacted if the patient has a hematologic malignancy or an allogeneic bone marrow transplant.
GENES ANALYZED
Unless otherwi noted quencing and large rearrangement analys were performed on the following genes:BRCA1, BRCA2
CONFIDENTIAL*52375985*
52375985 Genetic Result - Integrated BRACAnalysis®
Name:DOB:Accession #:Report Date: Pt Last Name, Pt First Name Jun 14, 2016
07001268-BLD
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 CLAS
SIFICATION TECHNIQUES, AVAILABILITY OF ADDITIONAL SCIENTIFIC INFORMATION, AND OBSERVATION OF A VARIANT IN MORE PATIENTS.
Plea contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result.
This Authorized Signature pertains to this laboratory report:Benjamin B. Roa, PhD
Diplomate ABMG
Laboratory Director
Johnathan M. Lancaster, MD, PhD
Diplomate FACOG, FACS
Chief Medical Officer
The test results should only be ud 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 disclod to a third party, unless
related to treatment or payment for treatment, without the patient's express
written authorization. It is strongly recommended that the results be
communicated to the patient in a tting that includes appropriate counling.
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.
CONFIDENTIAL
*52375985*
52375985
Management Tool - Integrated BRACAnalysis ®
带有春字的诗句
GENETIC TEST RESULTS SUMMARY INFORMATION
THIS GENETIC TEST RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS:
HIGH RISK:Female Breast, Ovarian, Pancreatic
ELEVATED RISK:Melanoma
MUTATION
GENE
BRCA2
OVERVIEW
Hereditary Breast and Ovarian Cancer syndrome (HBOC):
•
This patient has been found to have a mutation in the BRCA2 gene. Individuals with mutations in BRCA2 have a condition called Hereditary Breast and Ovarian Cancer syndrome (HBOC). •Women with HBOC have a risk for breast cancer that is greatly incread over the 12.5% lifetime risk for wo
men in the general population of the United States. •Women with HBOC also have high risks for ovarian, fallopian tube, and primary peritoneal cancer.
•Men with HBOC due to mutations in BRCA2 have a high risk for breast cancer and an elevated risk for prostate cancer. The increa in
prostate cancer risk is most significant at younger ages. •Male and female patients with HBOC due to a mutation in BRCA2 also have a high risk for pancreatic cancer and an elevated risk for
melanoma. •Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing many of the 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 BRCA2 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.
WHAT ARE THE PATIENT'S GENE-RELATED CANCER RISKS?
If more than one gene mutation increas a specific cancer risk (e.g., breast), only the highest cance
r risk is shown. If this patient has more than one gene mutation, risks may be different, as this analysis does not account for possible interactions between gene mutations.
FEMALE BREAST
To age 5023%-28% 1.9%BRCA2
To age 7043%-84%7.3%BRCA2
12%2%BRCA2
Second primary within 5 years of first breast cancer
diagnosis
OVARIAN
To age 500.4%-4%0.2%BRCA2
To age 7016.5%-27%0.7%BRCA2
6.8%<1.0%BRCA2
撑起一片蓝天Ovarian cancer within 10 years of a breast cancer
diagnosis
PANCREATIC
1%BRCA2
To age 807%, or higher if there is a family
history of pancreatic cancer.
MELANOMA
To age 80Elevated risk 1.6%BRCA2 WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED?
This overview of clinical management guidelines is bad on this patient's genetic test results. Unless otherwi stated, medical management guidelines are limited to tho issued by the National Comprehensive Cancer Network (NCCN). The reference provided should always be consulted for more details. If management for a specific cancer (e.g. breast) is available due to multiple mutations, 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 recommendations may require modification bad on the patient's personal medical history, surgeries and other treatments. Patients with a personal history of cancer, benign tumors or pre-cancerous findings may be candidates for long term surveillance and risk reduction strategies beyond what is necessary for the treatment of their initial diagnosis. Any discussion of medical management options is for general information purpos only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and uful information, medical management decisions should be made in consultation between each patient and his or her healthcare provider.
FEMALE BREAST
Breast awareness - Women should be familiar with
18 years NA BRCA2 their breasts and promptly report changes to their
healthcare provider. Periodic, consistent breast lf-
examination (BSE) may facilitate breast awareness.1
Clinical breast examination125 years Every 6 to 12 months BRCA2
Annually BRCA2 Breast MRI and/or Mammography1Age 25 for MRI (preferred) or
mammography. Age 30 for both
MRI and mammography.
一听就耳熟的英文歌Individualize to a younger age if a
relative has been diagnod
younger than age 30.
Individualized NA BRCA2 Consider investigational screening studies within
clinical trials.1
Consider risk-reducing mastectomy.1Individualized NA BRCA2
Individualized NA BRCA2 Consider options for breast cancer risk reduction
agents (i.e. tamoxifen).1
OVARIAN
Bilateral salpingo-oophorectomy135 to 40 years, upon completion
NA BRCA2
of childbearing, or 40 to 45 for
women who have already
maximized their breast cancer
risk prevention
30 to 35 years Individualized BRCA2 Consider transvaginal ultrasound and CA-125漫漫长路任我闯
measurement. Consider investigational screening
studies within clinical trials.1
Individualized NA BRCA2 Consider options for ovarian cancer chemoprevention
(i.e. oral contraceptives).1
PANCREATIC
Consider available options for pancreatic cancer
Individualized NA BRCA2 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 rearch protocols.2
