Transcript Slide 1

Breast Cancer 2010
David B. Pearlstone, MD MBA FACS
Co-Director, Breast Division
John Theurer Cancer Center
Chief, Division of Breast Surgery
Hackensack University Medical Center
Outline
– Epidemiology
– Screening
– Work up
• Genomics or ‘personalized medicine’
– diagnosis and treatment
– breast & ovarian cancer
Breast Cancer 101
Statistics
• Most commonly diagnosed cancer among
women; 27% of all cancers diagnosed in
women are breast cancers.
• Second most common cause of cancer
deaths among women, after lung cancer;
15% of all women who die of cancer, die of
breast cancer.
Incidence of Cancers Among Women
Jemal et al, Cancer Statistics, 2009 CA Cancer J Clin 2009;59:225
Cancer Deaths Among Women
Jemal et al, Cancer Statistics, 2009 CA Cancer J Clin 2009;59:225
Cancer Cases and Cancer Deaths
“Find more, Die less”
Jemal et al, Cancer Statistics, 2009 CA Cancer J Clin 2009;59:225
Breast Cancer 101
Biology
• any cell can produce malignancy
– glandular/ductal cells – high turnover
– Adenocarcinomas
• ductal adenocarcinoma, ‘garden variety
breast cancer’
ACS Screening
Recommendations
• Women should know how their breasts normally feel and
report any breast change promptly to their health care
providers. Breast self-exam (BSE) is an option for women
starting in their 20s.
• Yearly mammograms are recommended starting at age 40
and continuing for as long as a woman is in good health.
• Women at high risk (greater than 20% lifetime risk) should get
an MRI and a mammogram every year. Women at moderately
increased risk (15% to 20% lifetime risk) should talk with their
doctors about the benefits and limitations of adding MRI
screening to their yearly mammogram. Yearly MRI screening
is not recommended for women whose lifetime risk of breast
cancer is less than 15%.
• Clinical breast exam (CBE) should be part of a periodic health
exam, about every 3 years for women in their 20s and 30s and
every year for women 40 and over.
http://www.cancer.org/docroot/PED/content/PED_2_3X_ACS_
Cancer_Detection_Guidelines_36.asp?sitearea=PED
Breast Self Exam
• Women should know how
their breasts normally feel
and report any breast
change promptly to their
health care providers.
Breast self-exam (BSE) is
an option for women
starting in their 20s.
• Monthly
– Cycle
– Shower
Breast Self Exam
Don’t be intimidated
You know yourself better
than you think you do
Breast Imaging
• Mammography
• Ultrasound
• MRI
• Microwave imaging
• Thermography
• Electroimpedence
Breast Imaging
Mammography
• Yearly mammograms are
recommended starting at age 40 and
continuing for as long as a woman is in
good health.
40
mammogram
•
Exceptions
personal history
strong family history
• Role of ultrasound in early screening
•
Evolving field
Breast Imaging
MRI
•
Women at high risk (greater
than 20% lifetime risk) should get an
MRI and a mammogram every year.
•
Women at moderately
increased risk (15% to 20% lifetime
risk) should talk with their doctors
about the benefits and limitations of
adding MRI screening to their yearly
mammogram.
•
Yearly MRI screening is not
recommended for women whose
lifetime risk of breast cancer is less
than 15%.
Annual Exam
• Clinical breast exam
(CBE) should be part
of a periodic health
exam, about every 3
years for women in
their 20s and 30s and
every year for women
40 and over.
Annual Exam
History
symptoms (mass, pain, discharge, skin changes),
gyn history, family history, endocrine therapy
history
PERSONAL HISTORY OF BREAST CANCER
Physical
visual v. palpable, skin changes, nipple,
axilla/supraclavicular
Imaging
Annual Exam
Genetics consultation/discussion
Analysis of risk
Risk reduction
The Dread “Finding”
“I think you should see a breast specialist.”
Work up
Biopsy
FNA
core needle
excisional
palpable
wire localized
~80% negative rate
Genomics
Diagnosis
• BRCA1 & BRCA2
• other genotypes
• treatment options
– observation
– medical
– surgical
• FAMILY HISTORY
– Most breast cancers are sporadic
– Few are familial
– Even fewer are ‘genetic’
– IF YOU DON’T HAVE THE MUTATION,
YOU ARE NOT OFF THE HOOK
Genomics
Breast Cancer Risk with BRCA
Mutation
• 12 % of women in the general population will
develop breast cancer sometime during their
lives
• 60% of women who have inherited a harmful
mutation in BRCA1 or BRCA2 will develop
breast cancer sometime during their lives.
• In other words, a woman who has inherited a
harmful mutation in BRCA1 or BRCA2 is
about five times more likely to develop breast
cancer than a woman who does not have
Genomics
BRCA1 &BRCA2
• Tumor suppressor genes
• Not just breast cancer
• BRCA1: cervical, uterine, pancreas, colon cancer
male breast cancer, testicular, prostate
• BRCA2: pancreas, stomach, gall bladder, melanoma
Genomics
BRCA1 &BRCA2
The BRCA1 gene is located on the
long (q) arm of chromosome 17 at
band 21, from base pair 38,449,840 to
base pair 38,530,994
The BRCA2 gene is located on the
long (q) arm of chromosome 13 at
position 12.3 (13q12.3), from base pair
31,787,616 to base pair 31,871,804
Genomics
BRCA1
Genomics
BRCA1 & BRCA2
• Certain variations of the BRCA1 gene lead to an
increased risk for breast cancer.
• Researchers have identified hundreds of
mutations in the BRCA1 gene, many of which are
associated with an increased risk of cancer.
• Women who have an abnormal BRCA1 or BRCA2
gene have up to an 85% risk of developing breast
cancer by age 70;
• increased risk of developing ovarian cancer is
about 55% for women with BRCA1 mutations and
about 25% for women with BRCA2 mutations
Genomics
Who is most likely to have a
BRCA mutation?
• Three specific mutations, two in the BRCA1 gene and one in
the BRCA2 gene, are the most common mutations found in
these genes in the Ashkenazi Jewish population. In one study,
2.3 percent of participants (120 out of 5,318) carried one of
these three mutations This frequency is about five times
higher than that found in the general population.
• Norwegian, Dutch, and Icelandic peoples, also have higher
frequencies of specific BRCA1 and BRCA2 mutations.
• Frequencies of specific BRCA1 and BRCA2 mutations may
vary among individual racial and ethnic groups in the United
States, including African Americans, Hispanics, Asian
Americans, and non-Hispanic whites .
Genomics
Who Should Get BRCA Tested?
– For women who are not of Ashkenazi Jewish descent:
• two first-degree relatives (mother, daughter, or sister)
diagnosed with breast cancer, one of whom was diagnosed at
age 50 or younger;
• three or more first-degree or second-degree (grandmother
or aunt) relatives diagnosed with breast cancer regardless of
their age at diagnosis;
• a combination of first- and second-degree relatives
diagnosed with breast cancer and ovarian cancer (one cancer
type per person);
• a first-degree relative with cancer diagnosed in both breasts
(bilateral breast cancer);
• a combination of two or more first- or second-degree
relatives diagnosed with ovarian cancer regardless of age at
diagnosis;
• a first- or second-degree relative diagnosed with both breast
and ovarian cancer regardless of age at diagnosis; and
• breast cancer diagnosed in a male relative.
Genomics
Who Should Get BRCA Tested?
– For women of Ashkenazi Jewish descent:
• any first-degree relative diagnosed with breast or
ovarian cancer; and
• two second-degree relatives on the same side of
the family diagnosed with breast or ovarian cancer.
• DO YOU REALLY WANT TO BE TESTED?
Genomics
Genetic Discrimination
• GINA
– Enacted 2008
– protect U.S. citizens against discrimination based
on their genetic information in relation to health
insurance and employment .
– The parts of the law relating to health insurers
will take effect between May 2009 and May 2010
– The parts relating to employers will take effect by
November 2009.
– does not cover life insurance, disability
insurance, and long-term care insurance.
– does not cover members of the military.
Genomics
Genetic Discrimination
• Some of the protections under GINA with
regard to health insurance include the
following:
– Premiums or contributions to a group health plan
cannot be increased based on the genetic
information of an individual(s) enrolled in the
plan.
– Insurers cannot require an individual or family
member to undergo a genetic test before
enrollment in a group health plan.
– Insurers cannot request, require, or purchase
genetic information about an individual before
the person’s enrollment in a group health plan
– Health insurers cannot use genetic information as
the only basis upon which to claim a pre-existing
Genomics
Genetic Discrimination
• Some of the protections under GINA with
regard to employment include the
following:
– Employers cannot refuse to hire and cannot
fire individuals based on their genetic
information.
– Employers cannot discriminate against
employees because of their genetic
information.
– Employers cannot request, require, or
purchase genetic information about an
Genomics
BRCA & Ovarian Cancer
• 1.4 % of women in the general population
will be diagnosed with ovarian cancer
• 15 to 40 % of women who have a BRCA1
or BRCA2 mutation will be diagnosed
with ovarian cancer .
Genomics
Other Genetic Mutations
• Mutations in several other genes, including TP53,
PTEN, STK11/LKB1, CDH1, CHEK2, ATM, MLH1,
and MSH2, have been associated with hereditary
breast and/or ovarian tumors.
• The majority of hereditary breast cancers can be
accounted for by inherited mutations in BRCA1
and BRCA2.
• Overall, it has been estimated that inherited
BRCA1 and BRCA2 mutations account for 5 to 10
percent of breast cancers and 10 to 15 percent of
ovarian cancers among white women in the
United States
Genomics
Myriad Genetics
• BRCA1 and BRCA2 are patented in the
United States by Myriad Genetics
• This US patent has been challenged by the
American Civil Liberties Union
Breast Cancer & You
• Monthly breast self exam
• Annual practitioner exam
• Annual mammogram
• Know your family history
• BE PROACTIVE
Breast Cancer 2010
David B. Pearlstone, MD MBA FACS
Co-Director, Breast Division
John Theurer Cancer Center
Chief, Division of Breast Surgery
Hackensack University Medical Center