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Breast Cancer Screening

Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer is the most common cancer in women and the 2nd-leading cause of cancer-related deaths in women in the United States. Early detection and improved pathology-specific treatments have resulted in a decrease in death rates. Several organizations provide recommendations regarding screening Screening Preoperative Care for specific age and risk groups. Screenings include breast examination Breast examination Physical examination of the breasts is important both in the evaluation of a breast complaint and screening for asymptomatic breast pathology such as a breast mass. The examination involves inspection of the breasts to look for asymmetry or skin/nipple changes, as well as palpation of the breasts, nipples, and axilla. Coupled with medical history, the outcome of a breast examination can be normal, lead to a clinical diagnosis (e.g., infection), or require additional diagnostic evaluation. Examination of the Breast, mammography, magnetic resonance imaging (MRI), and ultrasound (US).

Last updated: Jul 11, 2022

Editorial responsibility: Stanley Oiseth, Lindsay Jones, Evelin Maza

Overview

Breast Cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer

Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer is a disease characterized by malignant transformation Transformation Change brought about to an organism’s genetic composition by unidirectional transfer (transfection; transduction, genetic; conjugation, genetic, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell’s genome. Bacteriology of the epithelial cells of the breast.

Epidemiology

  • Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer is the most common cancer in women.
  • Accounts for 29% of all malignant diseases among women in the United States
  • Incidence Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from prevalence, which refers to all cases in the population at a given time. Measures of Disease Frequency: 125 cases per 100,000 women
  • Risk increases with age, with 90% of cases occurring in women > 40 years of age
  • Male breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer accounts for < 1% of total cases.
  • An important cause of death in women:
    • United States: the 2nd-leading cause of cancer-related deaths
    • Developing countries: the leading cause of cancer-related deaths
  • Early detection and improved treatments have reduced death rates.

Risk factors

Unmodifiable factors that increase the risk:

  • Family history Family History Adult Health Maintenance:
    • Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer in 1st- or 2nd-degree relatives (mother, grandmother, sister)
    • Ashkenazi Jewish descent
  • Hormonal influences: long hormone exposure due to early menarche Menarche The first menstrual cycle marked by the initiation of menstruation. Menstrual Cycle and/or late menopause Menopause Menopause is a physiologic process in women characterized by the permanent cessation of menstruation that occurs after the loss of ovarian activity. Menopause can only be diagnosed retrospectively, after 12 months without menstrual bleeding. Menopause
  • Genetic mutations Genetic Mutations Carcinogenesis (examples):
    • BRCA1 (on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 17q)
    • BRCA2 (on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 13q)
    • p53 (on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 17)
  • Increasing age
  • Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer on the contralateral side

Modifiable risk factors:

  • Lifestyle factors that increase the risk: 
    • High-fat diet
    • Obesity Obesity Obesity is a condition associated with excess body weight, specifically with the deposition of excessive adipose tissue. Obesity is considered a global epidemic. Major influences come from the western diet and sedentary lifestyles, but the exact mechanisms likely include a mixture of genetic and environmental factors. Obesity (especially after menopause Menopause Menopause is a physiologic process in women characterized by the permanent cessation of menstruation that occurs after the loss of ovarian activity. Menopause can only be diagnosed retrospectively, after 12 months without menstrual bleeding. Menopause)
    • Heavy alcohol use
    • Tobacco
  • Hormonal influences that increase the risk:
    • Higher age at 1st delivery (> 30 years of age)
    • Nulliparity
    • Hormone replacement therapy Hormone Replacement Therapy Hormone replacement therapy (HRT) is used to treat symptoms associated with female menopause and in combination to suppress ovulation. Risks and side effects include uterine bleeding, predisposition to cancer, breast tenderness, hyperpigmentation, migraine headaches, hypertension, bloating, and mood changes. Noncontraceptive Estrogen and Progestins after menopause Menopause Menopause is a physiologic process in women characterized by the permanent cessation of menstruation that occurs after the loss of ovarian activity. Menopause can only be diagnosed retrospectively, after 12 months without menstrual bleeding. Menopause (> 5 years)
  • Hormonal influences that decrease the risk: breastfeeding Breastfeeding Breastfeeding is often the primary source of nutrition for the newborn. During pregnancy, hormonal stimulation causes the number and size of mammary glands in the breast to significantly increase. After delivery, prolactin stimulates milk production, while oxytocin stimulates milk expulsion through the lactiferous ducts, where it is sucked out through the nipple by the infant. Breastfeeding for at least 6 months

Mnemonics:

BReast- CA CA Condylomata acuminata are a clinical manifestation of genital HPV infection. Condylomata acuminata are described as raised, pearly, flesh-colored, papular, cauliflower-like lesions seen in the anogenital region that may cause itching, pain, or bleeding. Condylomata Acuminata (Genital Warts)ncer 1 and 2” = Mutated genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure are the BRCA1 and BRCA2 genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure.

Initial risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care

Details of the patient’s medical and personal history are needed to determine their risk:

  • Personal and family history Family History Adult Health Maintenance of breast, ovarian, tubal, or peritoneal cancer
  • Ancestry (associated with BRCA1 and 2)
  • Known carrier Carrier Vaccination of a gene mutation Gene Mutation Myotonic Dystrophies for breast or ovarian cancer Ovarian cancer Ovarian cancer is a malignant tumor arising from the ovarian tissue and is classified according to the type of tissue from which it originates. The 3 major types of ovarian cancer are epithelial ovarian carcinomas (EOCs), ovarian germ cell tumors (OGCTs), and sex cord-stromal tumors (SCSTs). Ovarian Cancer
  • Mammographic breast density
  • High-risk lesion on a previous breast biopsy Biopsy Removal and pathologic examination of specimens from the living body. Ewing Sarcoma
  • History of chest radiotherapy (age 10 to 30 years)

A patient’s risk for developing breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer can be classified as:

  • Average:
    • Have none of the above risk factors (most patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship)
    • Lifetime risk < 15%
  • Moderate: 
    • Most women with a family history Family History Adult Health Maintenance of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer in a 1st-degree relative, but no known genetic syndrome
    • Lifetime risk 15%‒20%
  • High:
    • Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with a known genetic predisposition, a personal history of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer, or radiotherapy
    • Lifetime risk > 20%

Risk prediction models

Prediction models are utilized for specific categorization Categorization Types of Variables of risk, with more factors considered.

  • Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care tool (Gail model): 
  • Other risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care models are used for patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with:
    • History of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer or in situ breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer
    • Known mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations in the BRCA1 or 2 genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure
    • Known or suspected inherited syndrome (linked with breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer)

Strategies for Screening

Breast examination Breast examination Physical examination of the breasts is important both in the evaluation of a breast complaint and screening for asymptomatic breast pathology such as a breast mass. The examination involves inspection of the breasts to look for asymmetry or skin/nipple changes, as well as palpation of the breasts, nipples, and axilla. Coupled with medical history, the outcome of a breast examination can be normal, lead to a clinical diagnosis (e.g., infection), or require additional diagnostic evaluation. Examination of the Breast

  • Self-examination: 
    • Generally discouraged
    • Can lead to unnecessary procedures (e.g., mammograms and biopsies)
  • Clinical examination:
    • Generally not recommended for average-risk women (adjunct only)
    • Utilized in the case of:
      • Women with a high risk (initial age differs depending on risk factors)
      • Any breast complaints or abnormalities
      • Low-resource settings
  • Localizing breast lesions:
    • If there is a vague or large area, then the area may be localized by a quadrant.
    • If there is a focal area, then the area will be localized by the clock face position and distance from the nipple Nipple The conic organs which usually give outlet to milk from the mammary glands. Examination of the Breast.

Mammography

Mammography is the most effective method of detecting early breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer, consistently demonstrating a 20%–40% decrease in mortality Mortality All deaths reported in a given population. Measures of Health Status among screened women:

  • High false-negative rate:
  • Types:
    • Screen film mammography: mostly replaced by digital mammography in the United States
    • Digital mammography: preferred for dense breasts Breasts The breasts are found on the anterior thoracic wall and consist of mammary glands surrounded by connective tissue. The mammary glands are modified apocrine sweat glands that produce milk, which serves as nutrition for infants. Breasts are rudimentary and usually nonfunctioning in men. Breasts: Anatomy (approximately 50% of all women)
    • Digital breast tomosynthesis (BDT, “3-D mammography”):
      • Takes images from many angles to obtain a 3-dimensional picture
      • Improves the sensitivity and specificity Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. Epidemiological Values of Diagnostic Tests of mammography
      • Preferred modality by the American College of Breast Surgeons
    • Computer-aided detection (CAD) often used: an artificial intelligence ( AI AI Conditions in which the production of adrenal corticosteroids falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the adrenal glands, the pituitary gland, or the hypothalamus. Adrenal Insufficiency and Addison’s Disease) technique that uses pattern recognition to highlight suspicious features and marks the features for the radiologist to review; CAD decreases oversights 
  • The breast imaging Breast Imaging Female breasts, made of glandular, adipose, and connective tissue, are hormone-sensitive organs that undergo changes along with the menstrual cycle and during pregnancy. Breasts may be affected by various diseases, in which different imaging methods are important to arrive at the correct diagnosis and management. Mammography is used for breast cancer screening and diagnostic evaluation of various breast-related symptoms. Imaging of the Breast reporting and data system (BI-RADS):
    • Standardizes the mammography report
    • Indicates categories and corresponding recommendations 
  • Screening Screening Preoperative Care versus diagnostic mammograms:
Table: Mammography findings and recommendations
Category Assessment Follow-up
BI-RADS 0 Incomplete assessment Additional mammography views or ultrasound follow-up needed
BI-RADS 1 Negative Continue with routine screening Screening Preoperative Care.
BI-RADS 2 Benign Benign Fibroadenoma findings Continue with routine screening Screening Preoperative Care.
BI-RADS 3 Probably benign Benign Fibroadenoma findings Diagnostic mammography or ultrasound in 6 months
BI-RADS 4 Suspicious abnormality Biopsy Biopsy Removal and pathologic examination of specimens from the living body. Ewing Sarcoma should be considered.
BI-RADS 5 Highly suggestive of malignancy Malignancy Hemothorax Biopsy Biopsy Removal and pathologic examination of specimens from the living body. Ewing Sarcoma should be performed.
BI-RADS 6 Biopsy-proven malignancy Malignancy Hemothorax Management for breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer
Note: A negative report should not rule out malignancy Malignancy Hemothorax if there is a high clinical suspicion. Consider ultrasound follow-up.

Magnetic resonance imaging (MRI)

  • Indicated as supplementary screening Screening Preoperative Care along with mammography in women with a high risk of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer:
    • BRCA1 or 2 mutations
    • Strong family histories of breast and/or ovarian cancer Ovarian cancer Ovarian cancer is a malignant tumor arising from the ovarian tissue and is classified according to the type of tissue from which it originates. The 3 major types of ovarian cancer are epithelial ovarian carcinomas (EOCs), ovarian germ cell tumors (OGCTs), and sex cord-stromal tumors (SCSTs). Ovarian Cancer
    • History of mantle radiation Radiation Emission or propagation of acoustic waves (sound), electromagnetic energy waves (such as light; radio waves; gamma rays; or x-rays), or a stream of subatomic particles (such as electrons; neutrons; protons; or alpha particles). Osteosarcoma for Hodgkin’s lymphoma Lymphoma A general term for various neoplastic diseases of the lymphoid tissue. Imaging of the Mediastinum
  • Used to follow up an abnormal or inconclusive mammogram Mammogram Fibrocystic Change result
  • Higher false-positive rates in women with dense breasts Breasts The breasts are found on the anterior thoracic wall and consist of mammary glands surrounded by connective tissue. The mammary glands are modified apocrine sweat glands that produce milk, which serves as nutrition for infants. Breasts are rudimentary and usually nonfunctioning in men. Breasts: Anatomy, leading to unneeded biopsies
  • Despite the increased sensitivity for malignancy Malignancy Hemothorax, there is no evidence of a decreased mortality Mortality All deaths reported in a given population. Measures of Health Status benefit.
Mammography and breast mri

Mammography and breast MRI
Image A shows mammography of the left breast in a BRCA1 gene mutation Gene Mutation Myotonic Dystrophies carrier Carrier Vaccination. Note the extremely dense breast tissue.
Image B demonstrates an MRI with an enhancing mass Mass Three-dimensional lesion that occupies a space within the breast Imaging of the Breast (arrow) in the upper left breast that was occult on the mammogram Mammogram Fibrocystic Change.

Image: “MRI for breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer: Current indications” by Ojeda-Fournier H, Comstock CE. License: CC BY 2.0.

Ultrasound (US)

  • Not routinely used for screening Screening Preoperative Care due to a high false-positive rate
  • Primarily used for diagnostic follow-up of an abnormal mammogram Mammogram Fibrocystic Change
  • Can be considered as an adjunct in patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with dense breasts Breasts The breasts are found on the anterior thoracic wall and consist of mammary glands surrounded by connective tissue. The mammary glands are modified apocrine sweat glands that produce milk, which serves as nutrition for infants. Breasts are rudimentary and usually nonfunctioning in men. Breasts: Anatomy

Screening for Average- and Moderate-risk Individuals

Average risk

Society and government-sponsored guidelines differ in:

Table: Breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer screening Screening Preoperative Care guidelines for average-risk individuals
Organization Mammography Clinical breast examination Breast examination Physical examination of the breasts is important both in the evaluation of a breast complaint and screening for asymptomatic breast pathology such as a breast mass. The examination involves inspection of the breasts to look for asymmetry or skin/nipple changes, as well as palpation of the breasts, nipples, and axilla. Coupled with medical history, the outcome of a breast examination can be normal, lead to a clinical diagnosis (e.g., infection), or require additional diagnostic evaluation. Examination of the Breast
USPSTF
  • Age 40–49: individualize*
  • Age 50–74: every 2 years
  • Age > 75: insufficient evidence
Insufficient evidence
ACP
  • Age 40–49: individualize*
  • Age 50–74: every 2 years
  • Age ≥ 75: Discontinue screening Screening Preoperative Care if life expectancy Life expectancy Based on known statistical data, the number of years which any person of a given age may reasonably expected to live. Population Pyramids is < 10 years.
Not recommended
ACS
  • May offer at age 40; start at age 45.
  • Age 45–54: annually
  • Age 55 and above: every 1–2 years
  • Continue if life expectancy Life expectancy Based on known statistical data, the number of years which any person of a given age may reasonably expected to live. Population Pyramids is ≥ 10 years.
Not recommended
ACOG
  • May offer at age 40.
  • Start no later than age 50: every 1–2 years.
  • Age > 75: Assess health, longevity, and discontinuation options.
  • Age 29–39: every 1–3 years
  • Age ≥ 40: annually
NCCN
  • Age ≥ 40: annually
  • Age 20–39: every 1–3 years
  • Age ≥ 40: annually
*Discuss breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer screening Screening Preoperative Care, risks, benefits, and potential for unnecessary procedures. For patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship who choose to initiate screening Screening Preoperative Care, mammography is performed every 1‒2 years.
ACOG: American College of Obstetricians and Gynecologists
ACP: American College of Physicians Physicians Individuals licensed to practice medicine. Clinician–Patient Relationship
ACS: American Cancer Society
NCCN: National Comprehensive Cancer Network
USPSTF: U.S. Preventive Services Task Force

Moderate risk

Screening for High-risk Individuals

Screening Screening Preoperative Care and genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies

Recommendations:

  • Clinical breast exam: every 6–12 months by age 25 years (initiation and frequency depend on risk)
  • Annual mammogram Mammogram Fibrocystic Change (starts at age 30) and MRI (starts at age 25): for patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with BRCA1 or 2 mutations 
  • Annual mammogram Mammogram Fibrocystic Change and MRI generally start at age 30:
    • 1st-degree relative with known BRCA1 or 2 mutations
    • > 20% lifetime risk of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer
    • Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with radiation Radiation Emission or propagation of acoustic waves (sound), electromagnetic energy waves (such as light; radio waves; gamma rays; or x-rays), or a stream of subatomic particles (such as electrons; neutrons; protons; or alpha particles). Osteosarcoma therapy to the chest at 10–30 years of age
    • Most high-risk syndromes
  • An annual mammogram Mammogram Fibrocystic Change for other high-risk women (e.g., personal history of in situ lesions, atypical ductal hyperplasia Hyperplasia An increase in the number of cells in a tissue or organ without tumor formation. It differs from hypertrophy, which is an increase in bulk without an increase in the number of cells. Cellular Adaptation), with MRI discussed with a clinician Clinician A physician, nurse practitioner, physician assistant, or another health professional who is directly involved in patient care and has a professional relationship with patients. Clinician–Patient Relationship

Genetic counseling Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Myotonic Dystrophies and testing (USPSTF):

  • Familial risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care tools are recommended for women with the following:
  • Familial risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care tools include:
    • Ontario family history Family History Adult Health Maintenance risk assessment Risk assessment The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. Preoperative Care tool
    • Manchester scoring system
    • Referral screening Screening Preoperative Care tool
    • Pedigree Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Basic Terms of Genetics assessment tool
    • 7-question family history Family History Adult Health Maintenance screen
    • International breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer intervention study model
    • BRCAPRO (calculates the probability Probability Probability is a mathematical tool used to study randomness and provide predictions about the likelihood of something happening. There are several basic rules of probability that can be used to help determine the probability of multiple events happening together, separately, or sequentially. Basics of Probability of carrying BRCA1 and/or BRCA2 mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations)
  • Positive results should lead to genetic counseling Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Myotonic Dystrophies and potential genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies.
  • For women without a personal or family history Family History Adult Health Maintenance or ancestry associated with BRCA1 or 2: genetic counseling Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Myotonic Dystrophies and testing are not recommended.

Risk reduction

Non-surgical

  • Target modifiable risk factors:
  • Chemoprevention:
    • USPSTF: Risk-reducing medications recommended for high-risk women age ≥ 35 years (for a total of 5 years).
    • Considered in women at a high risk of breast cancer Breast cancer Breast cancer is a disease characterized by malignant transformation of the epithelial cells of the breast. Breast cancer is the most common form of cancer and 2nd most common cause of cancer-related death among women. Breast Cancer
    • Tamoxifen Tamoxifen One of the selective estrogen receptor modulators with tissue-specific activities. Tamoxifen acts as an anti-estrogen (inhibiting agent) in the mammary tissue, but as an estrogen (stimulating agent) in cholesterol metabolism, bone density, and cell proliferation in the endometrium. Antiestrogens:
      • Selective estrogen Estrogen Compounds that interact with estrogen receptors in target tissues to bring about the effects similar to those of estradiol. Estrogens stimulate the female reproductive organs, and the development of secondary female sex characteristics. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds. Ovaries: Anatomy receptor Receptor Receptors are proteins located either on the surface of or within a cell that can bind to signaling molecules known as ligands (e.g., hormones) and cause some type of response within the cell. Receptors modulator
      • Indicated for BRCA2 carriers Carriers The Cell: Cell Membrane who opt out of prophylactic mastectomy Mastectomy Surgical procedure to remove one or both breasts. Fat Necrosis of the Breast 
      • Less effective than risk-reducing surgery
      • Used in pre- or postmenopausal women
    • Anastrozole Anastrozole A nitrile and triazole derivative that acts as a selective nonsteroidal aromatase inhibitor. It is used in the treatment of estrogen nuclear receptor-positive breast cancer in postmenopausal women. Antiestrogens:
      • Aromatase Aromatase An enzyme that catalyzes the desaturation (aromatization) of the ring a of C19 androgens and converts them to C18 estrogens. In this process, the 19-methyl is removed. This enzyme is membrane-bound, located in the endoplasmic reticulum of estrogen-producing cells of ovaries, placenta, testes, adipose, and brain tissues. Aromatase is encoded by the cyp19 gene, and functions in complex with NADPH-ferrihemoprotein reductase in the cytochrome p450 system. Adipose Tissue: Histology inhibitor
      • Used in postmenopausal women

Surgical: Prophylactic mastectomy Mastectomy Surgical procedure to remove one or both breasts. Fat Necrosis of the Breast

Women should be counseled on the potential morbidity Morbidity The proportion of patients with a particular disease during a given year per given unit of population. Measures of Health Status of surgical procedures (surgical menopause Menopause Menopause is a physiologic process in women characterized by the permanent cessation of menstruation that occurs after the loss of ovarian activity. Menopause can only be diagnosed retrospectively, after 12 months without menstrual bleeding. Menopause, libido, body image).

  • Indications:
  • Does not completely eliminate the risk of cancer
  • May be done in conjunction with salpingo-oophorectomy to reduce ovarian cancer Ovarian cancer Ovarian cancer is a malignant tumor arising from the ovarian tissue and is classified according to the type of tissue from which it originates. The 3 major types of ovarian cancer are epithelial ovarian carcinomas (EOCs), ovarian germ cell tumors (OGCTs), and sex cord-stromal tumors (SCSTs). Ovarian Cancer risk

Screening for Special Populations

Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with dense breast tissue

  • The same approach to screening Screening Preoperative Care is recommended.
  • Digital mammography is preferred over film.
  • If there are no additional risk factors, no supplemental screening Screening Preoperative Care is recommended.
  • MRI or US may be used as an adjunct in moderate- or high-risk patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship.

Male BRCA carriers Carriers The Cell: Cell Membrane

Male BRCA carriers Carriers The Cell: Cell Membrane have a higher risk for breast, prostate Prostate The prostate is a gland in the male reproductive system. The gland surrounds the bladder neck and a portion of the urethra. The prostate is an exocrine gland that produces a weakly acidic secretion, which accounts for roughly 20% of the seminal fluid. , and pancreatic cancers:

  • Monthly breast self-examination starting at age 35
  • Annual clinical breast exam starting at age 35
  • Annual mammography can be considered in men with gynecomastia Gynecomastia Gynecomastia is a benign proliferation of male breast glandular ductal tissue, usually bilateral, caused by increased estrogen activity, decreased testosterone activity, or medications. The condition is common and physiological in neonates, adolescent boys, and elderly men. Gynecomastia or increased breast density (evidence is limited).
  • Prostate cancer screening Prostate cancer screening Prostate cancer is one of the most common cancers affecting men. In the United States, the lifetime risk of being diagnosed with prostate cancer is around 11%, and the lifetime risk of dying from this condition is 2.5%. Prostate cancer is a slow-growing cancer that takes years (even decades) to develop into advanced disease, and many men remain asymptomatic and die from other medical conditions. Prostate Cancer Screening starting at age 40 for BRCA2 carriers Carriers The Cell: Cell Membrane
  • Consideration of prostate Prostate The prostate is a gland in the male reproductive system. The gland surrounds the bladder neck and a portion of the urethra. The prostate is an exocrine gland that produces a weakly acidic secretion, which accounts for roughly 20% of the seminal fluid. screening Screening Preoperative Care starting at age 40 for BRCA1 carriers Carriers The Cell: Cell Membrane
  • Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with breast implants:
    • Make mammography difficult ( radiopaque Radiopaque An object of high density that blocks X-rays (looks white) X-rays content)
    • Involves 4 views (instead of the usual 2 views per breast)

References

  1. American Cancer Society. (2020). American Cancer Society recommendations for the early detection of breast cancer. https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html
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  14. American Society of Breast Surgeons. (2019). Position Statement on Screening Mammography. https://www.breastsurgeons.org/docs/statements/Position-Statement-on-Screening-Mammography.pdf
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