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Practice Guidelinesin Oncology v.1.2007
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NCCN Clinical Practice Guidelines in Oncology
Genetic/Familial
High-Risk Assessment:Breast and Ovarian
V.1.2007
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Version 1.2007, 03/22/07 2007 National Comprehensive Cancer Network, Inc. All rights reserved. These guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN.
NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
NCCN Genetic/Familial High-Risk Assessment: Panel Members
Genetic/Familial High-RiskAssessment: Breast and Ovarian
Mary B. Daly, MD, PhD/ChairFox Chase Cancer Center
Jennifer E. Axilbund, MS, CGCThe Sidney Kimmel Comprehensive
Cancer Center at Johns Hopkins
Eileen Bryant, PhD
Fred Hutchinson Cancer ResearchCenter/Seattle Cancer Care Alliance
Saundra Buys, MDHuntsman Cancer Institute at the
University of Utah
Consultant
Charis Eng, MD, PhD
Laura J. Esserman, MDUCSF Comprehensive Cancer Center
Carolyn D. Farrell, MS, CNP, CGCRoswell Park Cancer Institute
Raymond U. Osarogiagbon, MDSt. Jude Childrens Research
Hospital/University of Tennessee Cancer
Institute
Boris Pasche, MD, PhDRobert H. Lurie Comprehensive Cancer
Center of Northwestern University
Gwen Reiser, MS, CGCUNMC Eppley Cancer Center at The
Nebraska Medical Center
H. Lee Moffitt Cancer Center & Research
Institute at the University of South Florida
City of Hope Cancer Center
Kenneth Offit, MDMemorial Sloan-Kettering Cancer Center
Rebecca Sutphen, MD
Jeffrey N. Weitzel, MD
James M. Ford, MDStanford Comprehensive Cancer
Center
Susan Friedman, DVMFORCE-Facing Our Risk of Cancer
Empowered
Judy E. Garber, MD, MPHDana-Farber/Brigham and Womens
Cancer Center | Massachusetts
General Hospital Cancer Center
Wendy Kohlmann, MS, CGCHuntsman Cancer Institute at the
University of Utah
P. Kelly Marcom, MDDuke Comprehensive Cancer Center
Lisle M. Nabell, MDUniversity of Alabama at Birmingham
Comprehensive Cancer Center
*
Medical Oncology
Cancer Genetics
Internal Medicine
Hematology/Hematology Oncology
Surgery/Surgical Oncology
Gastroenterology Pediatric Oncology
Patient Advocacy
*Writing committee Member
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NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
This manuscript is being
updated to correspond
with the newly updated
algorithm.
Summary of Guidelines Updates
Table of Contents
NCCN Genetic/Familial High-Risk Assessment: Panel Members
Breast and/or Ovarian Genetic Assessment (BR/OV-1)
Hereditary Breast and/or Ovarian Cancer (HBOC-1)
HBOC Management (HBOC-A)
Li-Fraumeni Syndrome (LIFR-1)
Li-Fraumeni Management (LIFR-A)
Cowden Syndrome (COWD-1)
Cowden Syndrome Management (COWD-A)
Guidelines Index
Print the Genetic/Familial High-Risk Assessment: Breast and Ovarian
Guideline
These guidelines are a statement of consensus of the authors regarding their views of currently accepted approaches to treatment. Any clinicianseeking to apply or consult these guidelines is expected to use independent medical judgment in the context of individual clinical circumstances todetermine any patient's care or treatment. The National Comprehensive Cancer Network makes no representations nor warranties of any kindwhatsoever regarding their content, use, or application and disclaims any responsibility for their application or use in any way. These guidelines arecopyrighted by National Comprehensive Cancer Network. All rights reserved. These guidelines and the illustrations herein may not be reproduced inany form without the express written permission of NCCN. 2007.
Genetic/Familial High-RiskAssessment: Breast and Ovarian
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Manuscript
References
Clinical Trials:
Categories of Consensus:NCCN
Thebelieves that the best managementfor any cancer patient is in a clinicaltrial. Participation in clinical trials isespecially encouraged.
To find clinical trials online at NCCNmember institutions,
All recommendations are Category2A unless otherwise specified.
See
NCCN
click here:nccn.org/clinical_trials/physician.html
NCCNCategories of Consensus
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NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Summary of the Guidelines updates
Genetic/Familial High-Risk Assessment
Hereditary Breast and Ovarian Cancer:
)
:
HBOC Criteria( ):Entire page revised.
HBOC Follow-up( ):Footnote gandk were modified.
HBOC Management( ):Links to the
and the are new to the page.A new section entitled isk to Relatives .
Also for( and( )
Footnotes a and b were modified( ).
Detailed Family History: History of chemoprevention and/or risk
reducing surgery was added( ).
R was added to the page
BR/OV-1
BR/OV-1
NCCN Guidelines for Detection, Prevention, & RiskReduction of Cancer
HBOC-1
HBOC-2
HBOC-ANCCN Prostate Cancer Early Detection Guidelines
LIFR-A COWD-A
UPDATES
Summary of the major changes in the 2007 version of the Genetic/Familial High-Risk Assessment: Breast and Ovarian Cancer
guidelines from the 1.2006 version include:
Li-Fraumeni Syndrome
Cowden Syndrome
:
Footnotes b, c, and d were modified ( ).
Other Cancer Risks( ):Bullet 1 modified to include why screening is recommended
for cancer survivors with LFS.Bullet 3 now states that annual comprehensive exam
includes careful skin and neurologic examinations.New bullet added to Consider colonoscopy every 2-5 y.
Footnote 2 was modified( ).
:
Mucocutaneous lesions: Mucosal lesions was removed( .
Clarified wording of Operational Diagnosis for pathognomonic
criterion for an individual( ).
Footnotes b and c were modified( ).
Cowden Syndrome Management ( ):Bullet under Risk to relatives modified.Footnote 1is new to the page.Footnote 2 was modified.
LIFR-2
LIFR-A
LIFR-A
COWD-1
COWD-1
COWD-2
COWD-A
)
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Genetic/Familial High-RiskAssessment: Breast and Ovarian
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NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Offer research andindividualizedrecommendationsaccording to personaland family history
Breast screening as
perNCCN Breast CancerScreening andDiagnosis Guidelines
HBOC Management(see HBOC-A)
HBOC Management(see HBOC-A)
SCREENING
RECOMMENDATION
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
gh
i
j
k
l
If Ashkenazi Jewish descent, in addition to the specific familial mutation, test for all three founder mutations.Genetic testing may not be pursued due to a lack of availability, logistic/financial reasons, or personal decision not to pursue testing.
If more than one affected, consider: youngest age at diagnosis, bilateral disease, multiple primaries, ovarian cancer, most closely related to theproband/patient/consultand.
BRCA1/BRCA2 testing: If patient is of Ashkenazi Jewish descent, test three common mutations first. Then, if negative, consider full sequence testingbased on assessment of individual and family history. If patient is non-Ashkenazi Jewish, full sequence test.
Testing of unaffected family members when no affected member is available should be considered. Significant limitations of interpreting test resultsshould be discussed.
Consider other efforts to define functional impact of variant. Testing for variant of unknown significance should not be used for clinical purposes and is
not recommended for unaffected relatives at risk (except for research purposes).
HBOCcriteriamet
DeleteriousfamilialBRCA1/BRCA2mutation known
Familial
mutationunknown
BRCA1/BRCA2
FAMILYSTATUS
HBOC FOLLOW-UP
Risk assessment
and counseling:
Psychosocialassessmentand supportRisk counselingEducationDiscussion ofgenetic testingInformed
consent
Hereditary Breast and/orOvarian Cancer
Negative for familialBRCA1/BRCA2mutation
BRCA1/BRCA2 testingnot performedh
PoBRCA1/BRCA2mutation
sitive for familial
Family membertested and mutationfound
Family member nottested or tested andno mutation found
h
Variant of unknownsignificance found(uninformative)l
TEST OUTCOME
ConsiderBRCA1/BRCA2testing forspecific familialmutationg
Consider testingaffected familymember withhighest likelihoodofmutation
BRCA1/BRCA2i,j,k
HBOC-2
GENETIC TESTING
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Version 1.2007, 03/22/07 2007 National Comprehensive Cancer Network, Inc. All rights reserved. These guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN.
NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Li-Fraumeni Syndrome
Criterianot met
Criteriamet Follow-up (see LIFR-2)
Cancers associated with Li-Fraumeni syndrome include but are not limited to:
Premenopausal breast cancerBone and soft tissue sarcomasAcute leukemiaBrain tumorAdrenocortical carcinomaUnusually early onset of other adenocarcinomas, or other childhood cancers
aAdapted from: Varley JM, Evans DGR, Birch JM: Li-Fraumeni syndromeA molecular and clinical
review. . ; 1-14, by permission of Nature Publishing Group.Br J Cancer 1997 76(1),
LI-FRAUMENI CRITERIAa
Classic Li-Fraumeni Syndrome Criteria:
Member of kindred with a known TP53 mutationCombination of an individual diagnosed < age 45 y with a sarcoma, andhaving a first-degree relative diagnosed < age 45 y with cancer and anadditional first- or second-degree relative in the same lineage withcancer diagnosed < age 45 y, or a sarcoma at any age
Li-Fraumeni-Like Syndrome Criteria
An individual with:
A childhood tumor or
A first- or second-degree relative with a typical Li-Fraumeni Syndrometumor at any age, and another first- or second-degree relative withcancer diagnosed < the age of 60
sarcoma, brain tumor, or adrenocortical carcinoma diagnosed < age 45
AND
Individualized recommendationsaccording to personal andfamily history
FOLLOW-UP
LIFR-1
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Version 1.2007, 03/22/07 2007 National Comprehensive Cancer Network, Inc. All rights reserved. These guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN.
NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Risk assessmentand counseling:
Psychosocialassessment andsupportRisk counselingEducationDiscussion of
genetic testingInformed consent
Li-Fraumeni Syndrome
DeleteriousfamilialTP53mutation
known
FamilialTP53mutationunknown
b
c
d
e
Youngest age at diagnosis, bilateral disease, multiple primaries, sarcoma at age < 45 yr.
Testing of unaffected family members when no affected member is available may be considered. Significant limitations of interpreting test resultsshould be discussed.
Genetic testing may not be pursued due to a lack of availability, logistic/financial reasons, or personal decision not to pursue testing.
Consider other efforts to define functional significance of mutations. Testing for variant of unknown significance should not be used for clinical
purposes and is not recommended for unaffected relatives at risk (except for research purposes).
FAMILYSTATUS
LI-FRAUMENIFOLLOW-UP
Li-Fraumenicriteria met
TEST OUTCOME SCREENING
RECOMMENDATION
Consider TP53testing forspecific familialmutation
Positive for familialTP53 mutation
Negative for familialTP53 mutation
TP53 testing notperformed d
Li-FraumeniManagement(see LIFR-A)
Consider testingaffected familymember withhighest likelihoodof TP53 mutationb,c
Offer research andindividualizedrecommendationsaccording to personaland family history
Breast screeningas perNCCN BreastCancer Screening andDiagnosis Guidelines
Li-Fraumeni
Management(see LIFR-A)
LIFR-2
GENETIC TESTING
Family member
tested and mutationfound
Family member nottested or tested andno mutation found
d
Variant of unknown
significance found(uninformative)e
G id li I d
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NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
LI-FRAUMENI MANAGEMENT
Li-Fraumeni Syndrome
BREAST CANCER RISK
Training and education in breast self-exam and regular
monthly BSE starting at age 18 y
Semiannual clinical breast exam starting at age 20-25 y,or 5-10 y before the earliest known breast cancer in thefamily (whichever is earlier)
Annual mammogram and breast MRI screening startingat age 20-25 y, or individualized based on earliest age ofonset in family
Discuss options for risk-reducing mastectomy on case-by-case basis and counsel regarding degree ofprotection, degree of cancer risk, and reconstructionoptions
Discuss option to participate in investigational breastimaging when available (eg, novel imaging technologiesand more frequent screening intervals)
1,2
3
OTHER CANCER RISKS
RISK TO RELATIVES
Address limitations of screening for many cancers
associated with Li-Fraumeni Syndrome: Because of the
remarkable risk of additional primary neoplasms,
screening may be considered for cancer survivors with
LFS and a good prognosis from their prior tumor(s)
Pediatricians should be apprised of the risk ofchildhood cancers in affected families
Annual comprehensive physical exam with high index
of suspicion for rare cancers and second malignancies
in cancer survivors: include careful skin and neurologic
examinations
Consider colonoscopy every 2-5 y
Advise about possible inherited cancer risk to relatives
and consideration of genetic consult and/or testing
Target surveillance based on individual family histories
Education regarding signs and symptoms of cancer
LIFR-A
1
2
3
The appropriateness of imaging scheduling is still under study.
Some centers are evaluating alternative imaging techniques as investigational tools.
High-quality breast MRI limitations include having: a need for a dedicated breast coil, the ability to perform biopsy under MRI guidance, experienced radiologists inbreast MRI, and regional availability.
Guidelines Index
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Version 1.2007, 03/22/07 2007 National Comprehensive Cancer Network, Inc. All rights reserved. These guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN.
NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Cowden Syndrome
Criterianot met
Criteriamet Follow-up (see COWD-2)
COWDEN SYNDROME CRITERIAa
Operational diagnosis in anindividual, any singlepathognomonic criterion, but:
Mucocutaneous lesions alone if:there are six or more facialpapules, of which three or moremust be trichilemmoma, or
cutaneous facial papules and oralmucosal papillomatosis, ororal mucosal papillomatosis andacral keratoses, orpalmoplantar keratoses, six ormore
Two or more major criteriaorOne major and three minor criteria
orfour minor criteria
Operational diagnosis forindividuals in a family where onerelative is diagnostic for Cowdensyndrome. The individual must alsohave one or more of the following:
A pathognomonic criterionAny one major criteria with orwithout minor criteriaTwo minor criteriaHistory of Bannayan-Riley-Ruvalcaba syndrome
aAdapted from Eng C. Will the real Cowden syndrome please stand up: revised diagnostic
criteria. J Med Genet. ;37:828-830, with permission from the BMJ Publishing Group.2000
Individualizedrecommendationsaccording to personaland family history
COWD-1
Pathognomonic criteria:
Adult Lhermitte-Duclos disease (LDD)
(cerebellar tumors)
Mucocutaneous lesionsTrichilemmomas, facialAcral keratosesPapillomatous papules
Major criteria:
Minor criteria:
Breast cancerThyroid cancer, especially follicular thyroidcarcinomaMacrocephaly (megalocephaly) (ie, 97thpercentile)Endometrial cancer
Other thyroid lesions (eg, adenoma,multinodular goiter)Mental retardation (ie, IQ 75)GI hamartomasFibrocystic disease of the breastLipomasFibromas
GU tumors (especially renal cell carcinoma)GU structural manifestationsUterine fibroids
Guidelines Index
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Version 1.2007, 03/22/07 2007 National Comprehensive Cancer Network, Inc. All rights reserved. These guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN.
NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Risk assessmentand counseling:
Psychosocialassessment andsupportRisk counselingEducationDiscussion ofgenetic testingInformed consent
FamilialPTENmutation
known
FamilialPTENmutationunknown
b
c
d
Testing of unaffected family members when no affected member is available may be considered. Significant limitations of interpreting testresults should be discussed.
Genetic testing may not be pursued due to a lack of availability, logistic/financial reasons, or personal decision not to pursue testing.
Consider other efforts to define functional significance of mutations. Testing for variant of unknown significance should not be used for clinical
purposes and is not recommended for unaffected relatives at risk (except for research purposes).
FAMILY
STATUS
COWDEN SYNDROME
FOLLOW-UP
Cowden Syndrome
Cowden
criteria
met
TEST OUTCOME SCREENING
RECOMMENDATION
Consider PTENtesting forspecific familial
mutation
Positivefor familialPTENmutation
Negativefor familialPTENmutation
PTENtesting notperformedc
Cowden SyndromeManagement(see COWD-A)
Consider testingaffected familymember withhighest likelihood
of PTEN mutation b
Offer research andindividualized
recommendationsaccording topersonal and familyhistory
Breast screening asperNCCN BreastCancer Screening andDiagnosis Guidelines
Cowden SyndromeManagement(see COWD-A)
COWD-2
GENETIC TESTING
Family membertested and mutationfound
Family member nottested or tested andno mutation found
c
Variant of unknownsignificance found(uninformative)d
Guidelines Index
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NCCN Practice Guidelines
in Oncology v.1.2007
Guidelines Index
Genetics Table of Contents
MS, References
1
2The appropriateness of imaging scheduling is still under study.
High-quality breast MRI limitations include having: a need for a dedicated breast coil, the ability to
perform biopsy under MRI guidances experienced radiologists in breast MRI, and regional availability.Note: All recommendations are category 2A unless otherwise indicated.
Clinical Trials: NCCN believes that the best management of any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.
Cowden Syndrome
COWDEN SYNDROME MANAGEMENT
WOMEN
Training and education in breast self-exam and
regular monthly BSE starting at age 18 y
Annual mammography and breast MRI screeningstarting at age 30-35 y or 5-10 y earlier thanearliest known breast cancer in the family(whichever is earlier)
Blind endometrial aspiration biopsies annuallyfor premenopausal women starting at age 35-40,or 5 y before earliest diagnosis of endometrialcancer in the family, and annual endometrialultrasound in postmenopausal women.
Discuss options for risk-reducing mastectomyon case-by-case basis and counsel regardingdegree of protection, extent of cancer risk, and
reconstruction options.
Semiannual clinical breast exam starting at age
25 y or 5-10 y earlier than earliest known breast
cancer in the family
1, 2
MEN AND WOMEN
Annual comprehensive physical exam starting atage 18 y or 5 y younger than the youngest age ofdiagnosis of a component cancer in the family(whichever is younger), with particular attention to
breast and thyroid exam
Annual urinalysis; consider annual urine cytologyand renal ultrasound, if family history of renalcancer
Baseline thyroid ultrasound at age 18 y, andconsider annually thereafter
Education regarding the signs and symptoms ofcancer
Consider annual dermatologic exam
RISK TO RELATIVES
Advise about possible inherited cancer risk to
relatives and consideration of genetic consultand/or testing
COWD-A
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Guidelines Index
Genetics Table of Contents
Genetic/Familial High-Risk
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NCCN in Oncology v.1.2007 MS, References
Manuscript
update inprogress
Disclosures for the NCCN Genetics/Familial High Risk ScreeningGuidelines Panel
At the beginning of each panel meeting to develop NCCNguidelines, panel members disclosed financial support they have
received in the form of research support, advisory committee
membership, or speakers' bureau participation.Members of the
panel indicated that they have received support from the following:
Abbott Laboratories, California Brea st Cancer Research Program,
Department of Defense, Komen Foundation, Myriad Genetics,
NCI/NIH, and V Foundation.
Some panel members do not accept any support from industry. The
panel did not regard any potential conflicts of interest as sufficient
reason to disallow participation in panel deliberations by anymember.
MS-11
gAssessment: Breast and Ovarian
NCCN Practice Guidelines
Guidelines Index
Genetics Table of Contents
Genetic/Familial High-Risk
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NCCN in Oncology v.1.2007 MS, References
Manuscript
update inprogress
Table 1:Genetic Test Results to Determine the
Presence of a Cancer-Predisposing Gene
Result Description
True-positive The person is a carrier of an alteration in
a known cancer-predisposing gene.
True-negative The person is not a carrier of a known
cancer-predisposing gene that has been
positively identified in another family
member.
Indeterminate The person is not a carrier of a known
cancer-predisposing gene, and the carrier
status of other family members is either
also negative or unknown.
Inconclusive The person is a carrier of an alteration in
a gene that currently has no knownsignificance.
Assessment: Breast and Ovarian
MS-12
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NCCN Practice Guidelines
in Oncology v 1 2007
Guidelines Index
Genetics Table of Contents
MS References
Genetic/Familial High-RiskAssessment: Breast and Ovarian
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NCCN in Oncology v.1.2007 MS, References
Manuscript
update inprogress
Bilateral Prophylactic Oophorectomy in BRCA1 Mutation Carriers. J
Natl Cancer Inst 1999;91:1475-1479.
63. Hisada M, Garber JE, Fung CY et al. Multiple primary cancers infamilies with Li-Fraumeni syndrome. J Natl Cancer Inst 1998 Apr
15;90(8):606-11.
64. Dorval M, Patenaude AF, Schneider KA et al.Anticipated versus
actual emotional reactions to disclosure of results of genetic tests
for cancer susceptibility: findings from p53 and BRCA1 testing
programs. J Clin Oncol 2000 May;18(10):2135-42.
65. Warner E, Plewes DB, Hill KA et al. Surveillance of BRCA1 and
BRCA2 mutation carriers with magnetic resonance imaging,
ultrasound, mammography, and clinical breast examination. JAMA
2004;292(11):1317-25.
66. Eng C. Genetics of Cowden syndrome: Through the looking
glass of oncology. Int J Oncol 1998;12:701-710.
67. Eng C. Will the real Cowden syndrome please stand up: revised
diagnostic criteria. Journal of Medical Genetics 2000; 37(11):828-
830.
REF-4
Assessment: Breast and Ovarian