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Breast Cancer Gene Marker
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Breast Cancer Gene Marker
, BRCA, Breast Cancer Gene Marker Testing Indications
Labs
Gene
Markers
Most common types (>20 mutations have been identified)
BRCA (
BRCA1
,
BRCA2
): 60% of
Breast Cancer
gene mutations
AT (
Ataxia Telangiectasia
) on
Chromosome
11
Single mutant copy
Confers 5 fold risk of
Breast Cancer
PTEN gene (Cowden syndrome)
CDH1 gene (hereditary diffuse
Gastric Cancer
)
TP53 gene (Li-Fraumeni syndrome)
STK11 gene (
Peutz-Jeghers Syndrome
)
BRCA1
BRCA2
Indications
BRCA testing
Person with
Family History
of
Breast Cancer
or
Ovarian Cancer
and known BRCA mutation
Ashkenazi jewish women
1st degree relative with
Breast
or
Ovarian Cancer
or
Two 2nd deg. relatives with
Breast
or
Ovarian Cancer
Non-Ashkenazi women
First degree relatives
Two with
Breast Cancer
(at least 1 under age 50)
One with bilateral
Breast Cancer
First or second degree relatives
Three with
Breast Cancer
Comorbid
Breast
and
Ovarian Cancer
at any age
Two or more with
Ovarian Cancer
Extended family
Breast Cancer
in any male relative
Reference
(2005) U.S. Preventive Task Force
Management
Known
BRCA1
or
BRCA2
carrier
Risks of
BRCA1
or
BRCA2
Breast Cancer
risk: 85-90% lifetime risk
Ovarian Cancer
risk
BRCA1
: 40-60%
BRCA2
: 15-20%
Management Options
Surveillance starting at age 25 years
Self Breast Exam
Monthly
Clinical Breast Exam
every 6 months
Mammogram
yearly
Breast MRI
yearly (start at age 30 years)
Ovarian Cancer
screening
No clear evidence-based guidelines
NCCN guidelines (esp.
BRCA1
)
Test every 6 months from age 35
Tests
Pelvic
Ultrasound
CA-125
Prophylactic
Mastectomy
Breast Cancer
can still occur
References
Garber in Harris (1996) Diseases
Breast
p. 335-41
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