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BREAST CANCER SCREENING,
PREVENTION
AND
GENETIC COUNSELLING
Guidelines
• WHO
• NCCN
• Association of Breast Surgeons (ABS)
• National Academy of Medicine
• American Cancer Society
• US Preventive Services Task Force
• American College of Radiology (ACR)
• Society of Breast Imaging (SBI)
Case Scenario
• Mrs. X is a 46-year-old woman who presents to hospital for
enquiry about breast cancer.
• She informs that her 51-year-old friend was diagnosed with
breast cancer one month ago and that she is worried about
getting breast cancer.
• On further inquiry, she gives history that she delivered her only
child when she was 32 years of age and has no family history
for breast cancer.
• She does not perform breast self-examinations and has never
had a mammogram. Mrs. X asks advice on breast cancer
screening.
INTRODUCTION
Increased risk of breast cancer with family history is known
• 20% and 25% of women diagnosed with breast cancer have a
positive family history
• The actual risk that family history conveys depends on
• The number of relatives affected
• Their age at diagnosis
• Having a first degree relative with premenopausal breast cancer
greater risk >>>>>> a first-degree relative with postmenopausal cancer
• One first-degree relatives with CA Breast (mother or sister), the
risk is 1.7 to 2.5
• Two or more first degree relatives (RR= 4-6 times)
• Second-degree relative with CA Breast (aunt, grandmother), the
risk is 1.5
• Women at higher risk of developing breast cancer
• Those with a personal history of breast cancer
• Therapeutic radiation to the breast area
• BRCA-positive women
• Women with a family history of a first degree relative with breast cancer
at a young age
• Women with a biopsy diagnosis of lcis or atypical ductal hyperplasia.
Three components of screening
Genetic
Screening
Breast
Screening
Cancer
Prevention
GENETIC
SCREENING
Genetic Screening
• In 1990s germline mutations in three important tumor
suppressor genes were discovered
• p53
• BRCA1
• BRCA2
• p53 gene is one of the most important tumor suppressor genes
and has been called the “guardian of the genome”
• Breast cancer is the most common malignancy in patients with
Li-Fraumeni syndrome; the lifetime risk is estimated to be 90%
BRCA1 & 2 Mutation
• BRCA1 was discovered in 1995 and BRCA2 in 1996
• BRCA1 or BRCA2 are present in <1% of the population
• Account for approximately 5% to 10% of all breast cancer cases
• Women carrying these mutations have a lifetime risk of
developing breast cancer of up to 70% to 80%
BRCA 1
• Location 17q21 or the q arm
of Chromosome 17 at
position 21
• TNBC
• Elevated lifetime risk of
• Ovarian cancer
• Colon cancer
• Prostate cancer
BRCA 2
• Location 13q12.3 or the q
arm of Chromosome 13 at
position 12.3
• Male breast cancer
• Pancreatic cancer
• Ovarian cancer
When to offer Genetic testing??
• NCCN recommends genetic testing be offered when:
• The individual has a family history of a known BRCA1/BRCA2
mutation
• Personal history of breast cancer plus one of the following:
• Diagnosed age 45 years or younger
• Diagnosed age ≤50 years with
• one or more close blood relatives with breast cancer at any age, pancreatic
cancer, prostate cancer, or an unknown or limited family history
• Diagnosed age ≤60 years with a triple negative (TN) breast cancer
• Diagnosed at any age with
• Two or more close blood relatives with breast, pancreatic, or
prostate cancer at any age,
• ≥1 close blood relative with breast cancer ≥50 years,
• ≥1 close blood relative with ovarian cancer,
• Close male blood relative with breast cancer
• Personal history of epithelial ovarian/fallopian tube/primary
peritoneal cancer, or
Genetic Predisposition
• They should start breast awareness starting at age 18
• Annual clinical and self-breast examination starting at age 25
• Annual mammography or magnetic resonance imaging (MRI)
and semiannual clinical and self-breast examination after age
35.
• Annual pelvic examinations with transvaginal sonography, color
doppler examinations of the ovaries, and CA-125 levels can be
considered beginning at age 35 to 45 years
• For those women aged 35 to 40, a risk-reducing bilateral
salpingo-oophorectomy is recommended, with possible short-
term hormone replacement therapy.
Breast Screening Investigations
• Self breast examination
• Clinical breast examination
• Mammography
• Digital versus Screen film mammography
• MRI screening
• Ultrasound screening
What’s The Difference Between A Breast Self-Exam
And A Clinical Breast Exam?
A clinical
breast exam is
performed by
a healthcare
professional to
detect any
abnormalities
and warning
signs
Breast self exam is
something every
woman should do
once a month at
home
Self Breast Examination Steps
• Stand before a mirror and look at both
breasts.
• Check for anything unusual, such as
nipple retraction, redness, puckering,
dimpling or scaling of the skin.
• Look for nipple discharge.
• Next, press hands firmly on hips
and lean slightly toward mirror as
you pull your shoulders and
elbows forward with a squeezing
or hugging motion.
• Look for any change in the normal
shape of your breasts.
• Looking in the mirror, raise arms and
rest hands behind head.
• This allows to see the underside of the
breasts
• Place left hand on waist, roll
shoulder forward and reach into
underarm area and check for
enlarged lymph nodes
• Also check the area above and
below clavicle
• To be done on both sides
• Raise left arm.
• Use the pads of three or four fingers of right
hand to examine left breast.
• Use three levels of pressure (light, medium
and firm) while moving in a circular motion.
• Beginning at the outer edge of breast, use
flat part of fingers, moving in circles slowly
around the breast.
• Gradually make smaller and smaller circles
toward the nipple.
• Check behind the nipple as well
Lie flat on back with left arm over head and a pillow or folded
towel under left shoulder
Clinical Breast Examination
Screening Mammography
• Breast cancer screening is
performed in asymptomatic
women so that disease can
be detected earlier
• It was first advocated in
1950s
• In the US, it starts at 40 years
in general population
• For women at high risk,
annual screening may be
started at an earlier age.
Mammography procedure
Each breast is compressed
horizontally between two plates for
imaging
Each breast is compressed
diagonally between two plates for
imaging
Digital Versus Screen Film Mammography
• There has been increased utilization of digital mammography
for screening.
• This technology utilizes a special detector capable of
transforming x-ray images into electronic digital image.
• Advantages include no film processing, faster image
acquisition, and less callbacks due to the ability to manipulate
the image digitally.
MRI Screening
• The role of MRI screening is rapidly evolving
• ACS guidelines (2011) recommend screening MRI as a supplement
to yearly mammography beginning at age 30 for women who have a
high lifetime risk (>20%–25% risk).
• Routine use of MRI screening for the general population is not
recommended because of the high cost and high false positive rate
• Kriege et al in a series concluded that MRI is more sensitive than
mammography in detecting tumors in women at high risk for familial
breast cancer
• Overall, studies have found high sensitivity for MRI, ranging from
71% to 100% versus 16% to 40% for mammography in high risk
populations
Ultrasound Screening
• Ultrasound is a complementary tool to mammography for the
diagnosis of breast cancer
• The NCCN recommends ultrasound for those women
presenting with a dominant mass or asymmetric thickening or
nodularity
• The role of screening ultrasound remains controversial
Breast Cancer Prevention
• Modify risk factors like:
• Reducing or eliminating alcohol consumption
• Maintaining ideal weight
• Exercising on a regular schedule
• Several drugs have been studied as chemopreventive agents.
• But the only agent for which mature data from clinical trials are
available is tamoxifen
• The results of the NSABP P-1 trial indicated that tamoxifen
reduced the rates of invasive and noninvasive breast cancer by
49% and 50%, respectively in high risk women
• Women with a history of atypical ductal hyperplasia had an 86%
risk reduction, and women with a history of LCIS had a 56% risk
reduction.
• Tamoxifen increased the risk of developing stage I endometrial
cancer (RR-2.53)
• Aromatase inhibitors are being tested (Letrozole, Anastrazole
and Exemestane)
Prophylactic Surgery
• Bilateral total mastectomy or bilateral salpingoophrectomy may
be beneficial in select high risk groups
• According to series done by Mayo hospital, bilateral
prophylactic mastectomy
there is 89.5% risk reduction in
breast carcinoma (p<0.001)
Newer Screening Technologies
• Full field digital mammography (FFDM)
• Digital breast tomosynthesis (DBT)
• Molecular breast imaging
• Abbreviated (fast) MRI
Case Scenario
• Mrs. X is a 46-year-old woman who presents to hospital for
enquiry about breast cancer.
• She informs that her 51-year-old friend was diagnosed with
breast cancer one month ago and that she is worried about
getting breast cancer.
• On further inquiry, she gives history that she delivered her only
child when she was 32 years of age and has no family history
for breast cancer.
• She does not perform breast self-examinations and has never
had a mammogram. Mrs. X asks advice on breast cancer
screening.
• Discuss the harms and benefits of screening, and offer
screening because she is older than age 40
• Mammography with clinical breast examination every year
• In general, the benefits of screening for breast cancer increase
as a woman becomes older.
Thank You

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Breast cancer screening, prevention and genetic counselling

  • 2. Guidelines • WHO • NCCN • Association of Breast Surgeons (ABS) • National Academy of Medicine • American Cancer Society • US Preventive Services Task Force • American College of Radiology (ACR) • Society of Breast Imaging (SBI)
  • 3.
  • 4. Case Scenario • Mrs. X is a 46-year-old woman who presents to hospital for enquiry about breast cancer. • She informs that her 51-year-old friend was diagnosed with breast cancer one month ago and that she is worried about getting breast cancer. • On further inquiry, she gives history that she delivered her only child when she was 32 years of age and has no family history for breast cancer. • She does not perform breast self-examinations and has never had a mammogram. Mrs. X asks advice on breast cancer screening.
  • 5. INTRODUCTION Increased risk of breast cancer with family history is known • 20% and 25% of women diagnosed with breast cancer have a positive family history • The actual risk that family history conveys depends on • The number of relatives affected • Their age at diagnosis • Having a first degree relative with premenopausal breast cancer greater risk >>>>>> a first-degree relative with postmenopausal cancer
  • 6. • One first-degree relatives with CA Breast (mother or sister), the risk is 1.7 to 2.5 • Two or more first degree relatives (RR= 4-6 times) • Second-degree relative with CA Breast (aunt, grandmother), the risk is 1.5
  • 7. • Women at higher risk of developing breast cancer • Those with a personal history of breast cancer • Therapeutic radiation to the breast area • BRCA-positive women • Women with a family history of a first degree relative with breast cancer at a young age • Women with a biopsy diagnosis of lcis or atypical ductal hyperplasia.
  • 8. Three components of screening Genetic Screening Breast Screening Cancer Prevention
  • 10. Genetic Screening • In 1990s germline mutations in three important tumor suppressor genes were discovered • p53 • BRCA1 • BRCA2 • p53 gene is one of the most important tumor suppressor genes and has been called the “guardian of the genome” • Breast cancer is the most common malignancy in patients with Li-Fraumeni syndrome; the lifetime risk is estimated to be 90%
  • 11. BRCA1 & 2 Mutation • BRCA1 was discovered in 1995 and BRCA2 in 1996 • BRCA1 or BRCA2 are present in <1% of the population • Account for approximately 5% to 10% of all breast cancer cases • Women carrying these mutations have a lifetime risk of developing breast cancer of up to 70% to 80%
  • 12. BRCA 1 • Location 17q21 or the q arm of Chromosome 17 at position 21 • TNBC • Elevated lifetime risk of • Ovarian cancer • Colon cancer • Prostate cancer BRCA 2 • Location 13q12.3 or the q arm of Chromosome 13 at position 12.3 • Male breast cancer • Pancreatic cancer • Ovarian cancer
  • 13.
  • 14. When to offer Genetic testing?? • NCCN recommends genetic testing be offered when: • The individual has a family history of a known BRCA1/BRCA2 mutation • Personal history of breast cancer plus one of the following: • Diagnosed age 45 years or younger • Diagnosed age ≤50 years with • one or more close blood relatives with breast cancer at any age, pancreatic cancer, prostate cancer, or an unknown or limited family history • Diagnosed age ≤60 years with a triple negative (TN) breast cancer
  • 15. • Diagnosed at any age with • Two or more close blood relatives with breast, pancreatic, or prostate cancer at any age, • ≥1 close blood relative with breast cancer ≥50 years, • ≥1 close blood relative with ovarian cancer, • Close male blood relative with breast cancer • Personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer, or
  • 16. Genetic Predisposition • They should start breast awareness starting at age 18 • Annual clinical and self-breast examination starting at age 25 • Annual mammography or magnetic resonance imaging (MRI) and semiannual clinical and self-breast examination after age 35.
  • 17. • Annual pelvic examinations with transvaginal sonography, color doppler examinations of the ovaries, and CA-125 levels can be considered beginning at age 35 to 45 years • For those women aged 35 to 40, a risk-reducing bilateral salpingo-oophorectomy is recommended, with possible short- term hormone replacement therapy.
  • 18.
  • 19.
  • 20. Breast Screening Investigations • Self breast examination • Clinical breast examination • Mammography • Digital versus Screen film mammography • MRI screening • Ultrasound screening
  • 21. What’s The Difference Between A Breast Self-Exam And A Clinical Breast Exam? A clinical breast exam is performed by a healthcare professional to detect any abnormalities and warning signs Breast self exam is something every woman should do once a month at home
  • 22. Self Breast Examination Steps • Stand before a mirror and look at both breasts. • Check for anything unusual, such as nipple retraction, redness, puckering, dimpling or scaling of the skin. • Look for nipple discharge.
  • 23. • Next, press hands firmly on hips and lean slightly toward mirror as you pull your shoulders and elbows forward with a squeezing or hugging motion. • Look for any change in the normal shape of your breasts.
  • 24. • Looking in the mirror, raise arms and rest hands behind head. • This allows to see the underside of the breasts
  • 25. • Place left hand on waist, roll shoulder forward and reach into underarm area and check for enlarged lymph nodes • Also check the area above and below clavicle • To be done on both sides
  • 26. • Raise left arm. • Use the pads of three or four fingers of right hand to examine left breast. • Use three levels of pressure (light, medium and firm) while moving in a circular motion. • Beginning at the outer edge of breast, use flat part of fingers, moving in circles slowly around the breast. • Gradually make smaller and smaller circles toward the nipple. • Check behind the nipple as well
  • 27. Lie flat on back with left arm over head and a pillow or folded towel under left shoulder
  • 29.
  • 30. Screening Mammography • Breast cancer screening is performed in asymptomatic women so that disease can be detected earlier • It was first advocated in 1950s • In the US, it starts at 40 years in general population • For women at high risk, annual screening may be started at an earlier age.
  • 31. Mammography procedure Each breast is compressed horizontally between two plates for imaging Each breast is compressed diagonally between two plates for imaging
  • 32. Digital Versus Screen Film Mammography • There has been increased utilization of digital mammography for screening. • This technology utilizes a special detector capable of transforming x-ray images into electronic digital image. • Advantages include no film processing, faster image acquisition, and less callbacks due to the ability to manipulate the image digitally.
  • 33. MRI Screening • The role of MRI screening is rapidly evolving • ACS guidelines (2011) recommend screening MRI as a supplement to yearly mammography beginning at age 30 for women who have a high lifetime risk (>20%–25% risk). • Routine use of MRI screening for the general population is not recommended because of the high cost and high false positive rate • Kriege et al in a series concluded that MRI is more sensitive than mammography in detecting tumors in women at high risk for familial breast cancer • Overall, studies have found high sensitivity for MRI, ranging from 71% to 100% versus 16% to 40% for mammography in high risk populations
  • 34. Ultrasound Screening • Ultrasound is a complementary tool to mammography for the diagnosis of breast cancer • The NCCN recommends ultrasound for those women presenting with a dominant mass or asymmetric thickening or nodularity • The role of screening ultrasound remains controversial
  • 35.
  • 36. Breast Cancer Prevention • Modify risk factors like: • Reducing or eliminating alcohol consumption • Maintaining ideal weight • Exercising on a regular schedule • Several drugs have been studied as chemopreventive agents. • But the only agent for which mature data from clinical trials are available is tamoxifen
  • 37. • The results of the NSABP P-1 trial indicated that tamoxifen reduced the rates of invasive and noninvasive breast cancer by 49% and 50%, respectively in high risk women • Women with a history of atypical ductal hyperplasia had an 86% risk reduction, and women with a history of LCIS had a 56% risk reduction. • Tamoxifen increased the risk of developing stage I endometrial cancer (RR-2.53) • Aromatase inhibitors are being tested (Letrozole, Anastrazole and Exemestane)
  • 38. Prophylactic Surgery • Bilateral total mastectomy or bilateral salpingoophrectomy may be beneficial in select high risk groups • According to series done by Mayo hospital, bilateral prophylactic mastectomy there is 89.5% risk reduction in breast carcinoma (p<0.001)
  • 39. Newer Screening Technologies • Full field digital mammography (FFDM) • Digital breast tomosynthesis (DBT) • Molecular breast imaging • Abbreviated (fast) MRI
  • 40. Case Scenario • Mrs. X is a 46-year-old woman who presents to hospital for enquiry about breast cancer. • She informs that her 51-year-old friend was diagnosed with breast cancer one month ago and that she is worried about getting breast cancer. • On further inquiry, she gives history that she delivered her only child when she was 32 years of age and has no family history for breast cancer. • She does not perform breast self-examinations and has never had a mammogram. Mrs. X asks advice on breast cancer screening.
  • 41. • Discuss the harms and benefits of screening, and offer screening because she is older than age 40 • Mammography with clinical breast examination every year • In general, the benefits of screening for breast cancer increase as a woman becomes older.

Editor's Notes

  1. The relative risk or risk ratio is the ratio of the probability of an outcome in an exposed group to the probability of an outcome in an unexposed group
  2. P- short, q-long
  3. This position flattens the breast and makes it easier to examine.