Oct. 2013 Via Christi Women's Connection presentation on breast cancer genetic testing featuring Patty Tenofsky, MD, with Via Christi Clinic in Wichita, Kan.
Audio and slides for this presentation are also available on YouTube: http://youtu.be/ukXhuy5cXrE
Huma Q. Rana, MD, a cancer geneticist with Dana-Farber Cancer Institute, explains the cancer risk associated with BRCA1 and BRCA2 gene mutations. This presentation was originally given on July 23, 2013 as part of the "What Every Woman Should Know" event put on by Dana-Farber's Susan F. Smith Center for Women's Cancers.
BRCA – Importance in Hereditary Breast & Ovarian CancerLifecare Centre
BRCA – Importance in Hereditary
Breast & Ovarian Cancer
DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
It describes the prevalence of Breast Cancer among BRCA 1/2 mutations with special consideration to biological background, detection and screening, actions taken upon discovering mutation carriers and whether we have a different therapeutic algorithm than sporadic cases. Special emphasis on the role of PARP inhibitors in the management of metastatic disease.
What's the latest in breast cancer treatment and research? Erica Mayer, MD, MPH, a medical oncologist in the Susan F. Smith Center for Women's Cancers, shares the latest breast cancer news.
This presentation was originally given on Oct. 16, 2015, at the annual Young Women with Breast Cancer Forum, hosted by the Program for Young Women with Breast Cancer in the Susan F. Smith Center for Women's Cancers at Dana-Farber Cancer Institute, in Boston, Mass.
Learn more: http://www.susanfsmith.org
Audio and slides for this presentation are also available on YouTube: http://youtu.be/ukXhuy5cXrE
Huma Q. Rana, MD, a cancer geneticist with Dana-Farber Cancer Institute, explains the cancer risk associated with BRCA1 and BRCA2 gene mutations. This presentation was originally given on July 23, 2013 as part of the "What Every Woman Should Know" event put on by Dana-Farber's Susan F. Smith Center for Women's Cancers.
BRCA – Importance in Hereditary Breast & Ovarian CancerLifecare Centre
BRCA – Importance in Hereditary
Breast & Ovarian Cancer
DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
It describes the prevalence of Breast Cancer among BRCA 1/2 mutations with special consideration to biological background, detection and screening, actions taken upon discovering mutation carriers and whether we have a different therapeutic algorithm than sporadic cases. Special emphasis on the role of PARP inhibitors in the management of metastatic disease.
What's the latest in breast cancer treatment and research? Erica Mayer, MD, MPH, a medical oncologist in the Susan F. Smith Center for Women's Cancers, shares the latest breast cancer news.
This presentation was originally given on Oct. 16, 2015, at the annual Young Women with Breast Cancer Forum, hosted by the Program for Young Women with Breast Cancer in the Susan F. Smith Center for Women's Cancers at Dana-Farber Cancer Institute, in Boston, Mass.
Learn more: http://www.susanfsmith.org
This downloadable slidedeck, presented in a regional grand rounds series, focuses on increasing awareness about current and emerging treatment options for patients with newly diagnosed and recurrent ovarian cancer.
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
Eric Fowler, MS, CGC, Certified/Licensed Genetic Counselor, manager of Genetic Counseling at Cancer Treatment Centers of America(r) presents "Know Your Risk: Understanding Genetics and Breast Cancer." The webinar presentation addresses genetics and genetic counseling basics, factors that impact breast cancer risk, family history risk, hereditary breast cancer and the pros and cons of genetic testing.
This is a concise presentation on the pathology of endometrial cancer based on the latest WHO female genital tumors latest edition, 5th edition
prepared on April 2022
What is biomarker?
What is the purpose of biomarker
Processes of biomarker development?
Types of Biomarkers
What is biomarker testing for cancer treatment?
Uses of Biomarkers in Cancer Medicine
Uses of Biomarkers in Cancer Drug Discovery
This downloadable slidedeck, presented in a regional grand rounds series, focuses on increasing awareness about current and emerging treatment options for patients with newly diagnosed and recurrent ovarian cancer.
Please share this webinar with anyone who may be interested!
Watch all our webinars: https://www.youtube.com/playlist?list=PL4dDQscmFYu_ezxuxnAE61hx4JlqAKXpR
Cancer care is increasingly tailored to individual patients, who can undergo genetic or biomarker testing soon after diagnosis, to determine which treatments have the best chance of shrinking or eliminating tumours.
In this webinar, a pathologist and clinical oncologist discuss:
● how they are using these new tests,
● how they communicate results and treatment options to patients and caregivers, and
● how patients can be better informed on the kinds of tests that are in development or in use across Canada
View the video: https://youtu.be/_Wai_uMQKEQ
Follow our social media accounts:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Pinterest - https://www.pinterest.com/survivornetwork
YouTube - https://www.youtube.com/user/Survivornetca
Eric Fowler, MS, CGC, Certified/Licensed Genetic Counselor, manager of Genetic Counseling at Cancer Treatment Centers of America(r) presents "Know Your Risk: Understanding Genetics and Breast Cancer." The webinar presentation addresses genetics and genetic counseling basics, factors that impact breast cancer risk, family history risk, hereditary breast cancer and the pros and cons of genetic testing.
This is a concise presentation on the pathology of endometrial cancer based on the latest WHO female genital tumors latest edition, 5th edition
prepared on April 2022
What is biomarker?
What is the purpose of biomarker
Processes of biomarker development?
Types of Biomarkers
What is biomarker testing for cancer treatment?
Uses of Biomarkers in Cancer Medicine
Uses of Biomarkers in Cancer Drug Discovery
Molecular Subtyping of Breast Cancer and Somatic Mutation Discovery Using DNA...Setia Pramana
Molecular Subtyping of Breast Cancer and Somatic Mutation Discovery Using DNA and RNA sequence
Guess Lecture at Computer Science Department, IPB, Bogor
Beyond BRCA Mutations: What's New in the World of Genetic Testing?bkling
Dr. Mark Robson, Clinic Director of the Clinical Genetics Service at Memorial Sloan Kettering Cancer Center, presents a medical update regarding the latest developments in genetic testing as it relates to breast and ovarian cancer. Topics include non-BRCA mutations, including both high-penetrance and so-called moderate penetrance mutations, and a framework for management of these.
Presented in collaboration with FORCE.
Regulatory oversight of genetic testing in Canada: Health Canada perspectiveMaRS Discovery District
Speaker: Patrice Sarrazin, PhD, Senior Scientific Evaluator, In Vitro Diagnostic Devices, Medical Devices Bureau, Therapeutic Product Directorate, Health Canada. Patrice discusses Health Canada's perspective on genetic testing as well as policy and regulation in Canada.
Part of Dx2010, a workshop at MaRS focused on best practices and regulatory considerations for developing gene-based diagnostic and prognostic tests.
On September 3, 2015, Ovarian cancer survivors and FDA Patient Representatives Peg Ford, Susan Leighton and Annie Ellis were invited to provide the patient perspective at the recent Ovarian Cancer Endpoints Workshop hosted by the Food and Drug Administration (FDA). This meeting was co-sponsored by the Society of Gynecologic Oncology (SGO), the American Association for Cancer Research (AACR) and the American Society of Clinical Oncology (ASCO). Many important topics to the ovarian cancer community were discussed, including novel clinical trial designs, biomarkers, and new classes of agents such as immunotherapies.
What Black Women Need to Know About Endometrial Cancerbkling
Dr. Kemi Doll, gynecologic oncologist at the University of Washington Medical Center, shares her passion for improving the lives of black women affected by this disease through her extensive research and knowledge about endometrial cancer.
This webinar is being put on in partnership with ECANA.
When Cells Go Rogue and Become Breast Cancerbkling
Let's have a conversation about our bodies and learn about the why's and how healthy cells mutate into cancer. Diva Whalen, Ph.D., Assistant Professor & Pre Health Advisor in Biology at Tougaloo College, will discuss how our genetics, where we live, and stress can be major factors in how breast cancer forms, what happens once diagnosed, and recurrence risks, especially in communities of color. Understand the importance of knowing what is "normal" for your body before, during, and after treatment.
Simple Ways to Reduce Your Cancer Risk - Montclair Public Library - 5.18.19Summit Health
Did you know that up to 50 percent of cancer cases in the United States could have been prevented? Learn strategies you can implement in your life to significantly reduce your risk of getting cancer. Light refreshments will be served.
Presenter(s): Melissa Berlin, MD, Family Medicine Practitioner; Constance Gore, RN-APN, Oncologist; Christina Lavner, RD, Oncologist
Surviving and Thriving with Gynecologic Cancer - 9.7.19Summit Health
Join Gynecologic Oncology and wellness experts for a special "brunch and learn," event for ovarian, cervical and other gynecologic cancer survivors and champions. Speaker-led sessions will cover innovation in treatment and complementary medicine to help manage menopause and other symptoms. Moderated by Darlene Gibbon, MD. FACOG, Medical Director of Gynecologic Oncology.
Other event materials can be found under the Patient Tools tab on this page: https://www.summitmedicalgroup.com/service/gynecological-oncology/
Learning about health, family history and what information to collect is important! As we prepare for November as Health History Month, the holidays provide an excellent opportunity for families to share health history. This webinar will help you learn about colorectal cancer and cancer diagnosis, and what this means for you and your family. We’ll give you tools and resources that help you collect this important information.
http://fightcolorectalcancer.org/get-resources/webinar-series/
Genetic counselor, Heather Herrmann, will dive in to the topic of Lynch Syndrome & CRC. Heather has enjoyed working in both pediatric genetics and cancer genetics throughout her career. She has focused the last eight years in the area of hereditary cancer syndromes and hereditary cancer risk assessment.
There are a variety of tests that you may face during the process of your diagnosis which will likely affect your treatment decision making. Join this informative webinar where Scott Weissman, MS, CGC, will explain the difference between tumor and germline testing so that you can better understand the tests you receive and what they mean for you.
Maggie Ward, with the Via Christi Cancer Outreach and Risk Assessment program, discussed cancer genetic testing at the October, 2015, Women's Connection luncheon.
Miki Matsuda, a podiatrist with Via Christi Health in Wichita, KS, recently presented about common foot and ankle issues to a Via Christi 50+ audience. Topics included ingrown toenails, onychomycosis, callouses and more.
Via Christi Women's Connection: Six ways to a better youVia Christi Health
Via Christi Clinic physicians Tara Katz, DO and Sara Purdy, DO, share their top 6 list for better health at the August Via Christi Women's Connection luncheon.
"The Beauty of BOTOX" presentation by Heidi LaForge, DO, Via Christi Clinic family medicine physician. Dr. LaForge explains how BOTOX is made and how it can help eliminate wrinkles.
Via Christi Women's Connection presentation on summer safety tips from Safe Kids Wichita Area. Tips for safe swimming, biking, camping, car seats and walking.
Lisa D. Sandell, OD, with Via Christi Clinic, presented "Keeping an Eye on Your Health" to Via Christi 50+ May 21, 2014, at the Sedgwick County Extension Office in Wichita, KS.
Via Christi Women's Connection presentation on advance in depression treatment by Matthew Macaluso, DO, medical director of Via Christi Psychiatric Clinic.
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
MIP 201T & MPH 202T
ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMS By - AKANKSHA ASHTANKAR
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Best Ayurvedic medicine for Gas and IndigestionSwastikAyurveda
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
CDSCO and Phamacovigilance {Regulatory body in India}NEHA GUPTA
The Central Drugs Standard Control Organization (CDSCO) is India's national regulatory body for pharmaceuticals and medical devices. Operating under the Directorate General of Health Services, Ministry of Health & Family Welfare, Government of India, the CDSCO is responsible for approving new drugs, conducting clinical trials, setting standards for drugs, controlling the quality of imported drugs, and coordinating the activities of State Drug Control Organizations by providing expert advice.
Pharmacovigilance, on the other hand, is the science and activities related to the detection, assessment, understanding, and prevention of adverse effects or any other drug-related problems. The primary aim of pharmacovigilance is to ensure the safety and efficacy of medicines, thereby protecting public health.
In India, pharmacovigilance activities are monitored by the Pharmacovigilance Programme of India (PvPI), which works closely with CDSCO to collect, analyze, and act upon data regarding adverse drug reactions (ADRs). Together, they play a critical role in ensuring that the benefits of drugs outweigh their risks, maintaining high standards of patient safety, and promoting the rational use of medicines.
4. Angelina Jolie‘s decision
• “The truth is I carry a „faulty‟ gene, BRCA 1,
which sharply increases my risk of
developing breast cancer and ovarian
cancer.”
• Her mother had previously battled breast cancer, but
then developed ovarian cancer at age 49 and died of
the disease at age 56
• Her Grandmother died of ovarian cancer at age 45
• Her maternal aunt died of breast cancer
• She chose to have bilateral preventive double
mastectomies.
• She plans to have her ovaries removed once she has
decided that she does not want any more children.
5. Christina Applegate
• She was diagnosed
with breast cancer,
and then found to
have the BRCA 1
gene at age 36
• She chose to have
bilateral
mastectomies
6. Breast & Ovarian Cancer
• 200,000 cases of Breast Cancer/year in the U.S.
– Lifetime risk is around 10-13%
– Risk factors
• Being a woman and getting older
• Family history, early menarche, late or no
pregnancy, hormone replacement, alcohol use,
obesity, lack of exercise
• 25,000 cases of Ovarian Cancer/year in the U.S.
– Lifetime risk is <2%
8. Hereditary Breast & Ovarian
Cancer Syndrome (BRCA)
• Characterized by significantly
increased risks for breast and ovarian
cancer
– 1:800 people in the general population
have a BRCA genetic mutation
– 1:40 people of Eastern European Jewish
descent will have the gene.
• Most cases are caused by a BRCA1
or BRCA2 mutation
• Clinical testing is available to identify
individuals with mutations
9. DNA
• Double Helix
• Made up of 4 building blocks
that get together in pairs
– Adenine (A), thymine (T) ,
guanine (G), cytosine (C)
• These 4 ―letters‖ create a
―word‖ that codes for a certain
amino acid. Amino Acids are
the building blocks of our
proteins – these proteins are
what lead to our characteristics
and features
• Misplaced letters or words can
lead to severely incorrect
proteins (mutations)
11. What is the purpose of our
normal BRCA genes?
• BRCA gene‘s purpose: It codes for proteins
that function to fight changes in your DNA that
can lead to breast and ovarian cancer.
– Changes may occur in your DNA which can
lead to cancer when normal cells divide and
are exposed to cancer inducing substances
– BRCA gene is therefore a cancer fighter
• BRCA gene that is mutated: The body is less
able to find and repair mistakes and cancer is
more likely.
12. Background
• 1990 – Families who had many women
with breast and ovarian cancer underwent
DNA studies and scientists identified the
first gene associated with breast cancer:
BRCA 1 on Chromosome 17.
• 1994 – BRCA 2 gene was discovered on
Chromosome 13.
• Jewish families were found to have a
much higher rate of the gene mutations.
• By the late 1990s – we were able to test
for the gene mutations.
15. ―Founder Effect‖
• The majority of people tested have a unique mutation –
one that is specific to them and their family.
– Hundreds of unique mutations have been found.
– Some are recurring, however.
• Ashkenazi Jewish population has 3 specific genes that
recur: Two BRCA1 and One BRCA2
– 185delAG; 5382insC; 6174delT
– 1996 study by Muto,et.al:
• 19% of Jewish women with ovarian cancer in Mass and
Israel had 185delAG
• 12% of breast cancers in Ashkenazi Jews are attributable to
BRCA 1 or BRCA 2 (Journal of National Cancer Institute,
1999)
– Genes come from groups of people who do not go
out of their small groups to find a mate
(interbreeding).
17. BRCA Mutation Increases Breast
and Ovarian Cancer Risks
AJHG 1995;56:265-271
Science 2003: 643-646
JCO 2005 23 (8): 1656-63
NCI 2005
20
40
60
80
100
Breast cancer
by age 50
Breast cancer
by age 70
Ovarian cancer
by age 70
2%
Up to
50%
8%
Up to
87%
RiskofCancer(%)
<1%
Up to
44%
General Population
BRCA Mutation
Lancet 1994;343:692-695
NEJM 1997;336:1401-1408
AJHG 2003;72:1117-1130
18. BRCA Mutation Increases Risk
of Second Breast Cancer
Lancet 1998;351:316-21
JCO 2004;22:2328-35
Lancet 1994;3343:692-5
Gynecol Oncol. 2005 Jan;96(1):222-6
0
20
40
60
Breast Cancer
after 5 years
Breast Cancer
by age 70
Up to
3.5%
Up to
27%
Up to
11%
Up to
64%
RiskofCancer(%)
General Population
BRCA Mutation
Ca Epi Biomarkers Prev. 1999;8(10):855-61
JNCI 1999;15:1310-6
JCO 1998;16:2417-25
19. Risks in Men With a
BRCA Mutation
JCO 2004;22:
735-42
Breast Cancer
by age 80
Prostate Cancer
by age 80
General Population
BRCA Mutation*
5
10
15
20
25
<1%
7%
15%
20%
RiskofCancer(%)
*Risks refer to BRCA2 mutation carriers.
Risks for male BRCA1 mutation carriers are less characterized
20. ―Red Flags‖ for Hereditary Breast
and Ovarian Cancer Syndrome
• For Women or Men with a newly diagnosed breast
cancer:
– Diagnosed at < 45 with or without FH
– Diagnosed at 45-50 with at a least one close blood relative
with breast cancer and/or at least one close blood relative
with ovarian cancer. Some would test all women in their
40s
– Bilateral breast cancer
– Diagnosed >50 with two or more close blood relatives with
breast or ovarian cancer at any age
– Close male relative with breast cancer
– Personal history of ovarian cancer
– Specific ethnicity associated with founder mutations
(Ashkenazi Jewish, Icelandic, Swedish, Hungarian)
especially along with family history
21. ―Red Flags‖ for Women & Men
who do not have Cancer
• Women or Men who do not currently have cancer are at
risk:
– Family member with known BRCA 1 or BRCA 2 mutation
– Previous history of breast cancer from the previously stated risk
factors. (The test has only been available for ten years)
– Personal history of ovarian cancer
– One or more close male relatives with breast cancer
– Two or more female relatives with breast cancer especially at age <50
on either maternal or paternal side
– One or more close female relatives with ovarian cancer
– Specific ethnicity as stated previously along with family history
• REMEMBER: The family member who had the cancer
diagnosis should always be tested FIRST if possible.
22. Family History Considerations
• One-half of BRCA carriers inherit the
mutation from their father
• Ovarian cancer is a very important
indicator
• Early onset breast cancer is more
important than the number of affected
family members
Science
2003:302(5645):643-6
23. New Considerations
• Triple Negative Breast Cancer:
– Research has shown that women who have breast
cancer not sensitive to hormones or a drug called
Herceptin are more inclined to have the BRCA
gene even without a family history.
– Testing is indicated if you have triple negative
breast cancer under age 60
• Pancreatic Cancer:
– If two or more people in the family have had
pancreatic cancer that may be a criteria for testing
– The gene will be found in 17-19% of those families
24. Prevalence of BRCA
Mutations – Non Jewish
www.brcacalculator.com
Ovarian cancer
in one relative,
no breast
cancer <50
21.1%23.1%8.8%
Ovarian
cancer, no
breast cancer
16.9%15.8%6.8%
Breast
cancer <50
5.6%4.5%2.8%
No breast
or ovarian
cancer
Breast cancer
<50, no ovarian
cancer
No breast cancer
<50 or ovarian
cancer
Patient‟s
History
Family History
25. Prevalence of Mutations in
Ashkenazi Jewish Individuals
www.brcacalculator.com
42.0%37.0%22.2%
Ovarian
cancer, no
breast cancer
38.8%24.2%12.0%
Breast
cancer <50
15.6%13.7%6.9%
No breast
or ovarian
cancer
Breast cancer
<50, no ovarian
cancer
No breast cancer
<50 or ovarian
cancer
Patient‟s
History
Family History
Ovarian cancer
in one relative,
no breast
cancer <50
29. Negative Test (no
mutation detected)
• Does not mean that the patient cannot
or will not develop breast cancer.
• Only means that they are not at risk
for developing hereditary breast
cancer related to the BRCA mutations
for which they were tested.
31. Family History & BRCA
Positive and Negative
CancerRisks%
50
Age (Years)
30 50 70
Positive for deleterious
BRCA mutation
100
Risk based on family
history
Negative for familial
BRCA mutation
Reprinted with permission from Ponder B: Genetic Testing for Cancer Risk. Science 1997; 278:1050-4.
Copyright 1997 American Association for the Advancement of Science
33. Managing Hereditary
Cancer Risk
• Surveillance
• Chemoprevention
• Prophylactic surgery
*Individual risk reduction may vary
based on personal health history
34. Screening for
Ovarian Cancer
• Screening for Familial Ovarian Cancer
– Poor Survival
– Most cancers are diagnosed at Stage 3 and 4
– Transvaginal U.S. & CA 125 are ineffective in
detecting tumors at a sufficiently early stage to
influence survival. Only detect 57% stage 1
– Ovarian cancer is 1/8 as common as breast, but
3 times more lethal
• Should be followed by an OB/GYN
35. Prophylactic Oophorectomy
• Recommend bilateral salpingo-
oophorectomy (BSO) at age 35 or after
childbearing is complete
– ~96% ovarian cancer risk reduction in
BRCA carriers
– Can reduce breast cancer risk by up to
68% for both BRCA1 and BRCA2
mutation carriers if the woman is pre-
menopausal
JAMA. 2006;296:185-92
Clin Oncol. 2005 Mar
10;23(8):1656-63
36. Prophylactic Ovarian removal -
Bilateral Oophorectomy (BSO)
• Does HRT increase cancer risk after
oophorectomy (ovarian removal)?
– No measurable effect with ―short term
usage‖ of Estrogen alone
– Estrogen until menopausal age – 50
• Unopposed estrogen does increase the
risk of uterine cancer. Adding a
hysterectomy to the BSO would
eliminate that risk, however, a much
bigger operation.
37. Surveillance for Breast Cancer
www.nccn.org
Cancer
Procedure Age to begin Frequency
Breast self-exam 18 yrs Monthly
Clinical breast
exam
25 yrs Twice a year
Mammography 25 yrs Yearly
MRI 25 yrs Yearly
38. Screening with MRI in
BRCA patients
• JAMA, 2004: MRI most
sensitive in detecting cancer
and can decrease mortality
in high risk women.
• Adequacy of screening
women with BRCA mutations
with only Mammo was not
shown to be good enough
even if the women had fatty
or low-dense breasts.
• Waiting a year between
screening is too long –
BRCA patient‘s cancers grow
faster than sporadic cancers.
39. Chemoprevention of
Breast Cancer
Tamoxifen
• Selective Estrogen Receptor Modulator (SERM)
– it blocks hormones from affecting breast cells
• Affected BRCA carriers: 50% decrease for
contralateral breast cancer
• Unaffected BRCA2 carriers: 62% decrease in
the risk of cancer
• Unaffected high-risk: 45% decrease
• Risks – increased risk of uterine cancer and
clotting. Low risk in women who took the
medication under age 50
Int J Cancer.
2006;118(9):2281-4
Lancet 2000;356:1876-81
40. Prophylactic Mastectomy
• Greater than 90% breast
cancer risk reduction
in BRCA carriers. May be
has high as 95-98%
reduction
• 100 women having
prophylactic surgery 1995-
2006
• 18/100 had abnormal lesions
• 3 invasive cancer
• 8 in situ cancer
• 7 ADH
•Eur J Surg Oncol 2008,
April 21
44. Genetic Discrimination
• Federal and state laws prohibit the use of
genetic information as a ‗pre-existing
condition‘
– Federal HIPAA legislation
– The majority of states have additional
laws
• Over 175,000 clinical tests performed to date
• No documented cases of genetic
discrimination
AJHG
2000;66:293
45. Gina Legislation
• U.S. President George
W. Bush signed into law
May 21, 2008 the first
civil rights legislation of
the new millennium, the
Genetic Information
Nondiscrimination Act
(GINA).
• GINA is the first and only
federal legislation that will
provide protections
against discrimination
based on an individual‘s
genetic information in
health insurance
coverage and
employment settings.
46. How do you test?
• Talk to your Primary Care Physician
– Your Doctor may feel comfortable with the discussion
and go ahead and test you; or they may send you to a
breast specialist to discuss your risks and whether the
test is right for you.
– The test is either blood or saliva
– The results are available in 2-3 weeks if insurance
approves
• Genetic Counselors
– If your BRCA test is negative but you have a very strong
FH – may need additional testing
• Other rare mutations exist – p53. pTEN/MMAC1
• Dr Jennifer Klemp in Kansas City: 913-588-7750
50. Rachel--Ovarian
Recommendations
• Her risk of ovarian cancer is 40-50%
• She is 40 and has completed child-
bearing
– Recommend: bilateral oophorectomy
(ovary removal) +/- hysterectomy
– Ovarian removal decreases her risk of
breast cancer by over 50%
– Unopposed Estrogen for 10 years okay,
but it increases her risk of uterine cancer if
she doesn‘t have a hysterectomy
51. Rachel – Breast
Recommendations
• Risk of Breast Cancer: 50-87%
• Options
– Increase screening with Mammogram and
MRI yearly separated by 6 months
– Above + Tamoxifen for 5 years to
decrease her risk by 50%
– Bilateral prophylactic mastectomies with
or without reconstruction
52. Rachel – Family
Recommendations
• Consider testing her
Brother – If he tests
Negative then his
daughter couldn‘t
inherit the gene from
him
• Rachel‘s Children –
each has a 50:50
chance of inheriting
the gene.
54. Heather
• Heather is at risk because her p Aunt
had breast cancer at a young age
• The best person to test would be
– Heather‘s Aunt – the person affected by
cancer
• If her aunt is positive then I would test
– Heather‘s Father
• If he is positive then I would test
– Heather
55. Heather
• Heather‘s aunt was positive
• Heather‘s Dad was negative
• What is Heather‘s risk?
– 10-13%, same as the general population
• Does she or her brother or sister need to
be tested?
– No, their Dad was negative
• Does her uncle and other two aunts need
to be tested?
– Yes, they all have a 50:50 chance of having the
gene.
56. Conclusion
• The BRCA gene is rare, but can
significantly increase the risk of breast and
ovarian cancer in patient‘s who have this
mutation.
• In patients who meet criteria, the test can
easily be done.
• If positive, there are many options
available to follow and potentially prevent
cancer.
Good afternoon, my name is Patty Tenofsky and I am a breast surgeon at the Via Christi Clinic. I will be discussing Breast Cancer Genetic Testing- It is right for you?
Angelina Jolie said yes it was right for her, making this a very timely and popular recent topic.
This is Angelina Jolie’s mother – Marcheline Bertrand pictured in 2001 at age 50, about the time she was diagnosed with ovarian cancer.
This is a quote from her in a letter to the editor in the New York Times, 5/14/13. Her family history is quite extensive. Her mother had previously battled breast cancer, but then developed ovarian cancer at age 49 and died of the disease at age 56Her GM died of ovarian cancer as well at age 45Her m aunt (Her mother’s sister) died of breast cancer at age 61 just this year.Angelina Jolie is 37 years old and does not have cancer, but she chose to have preventative double mastectomies when she found out that she had the BRCA 1 gene. She has said in interview that she plans to have her ovaries removed when she is certain she does not want to have any more children.
Another famous actress Christian Applegate was being followed very carefully for breast cancer because of family history. She was diagnosed with an early stage of breast cancer at age 36. She was also found to have the BRCA 1 gene like Angelina Jolie. She chose to undergo bilateral mastectomies as well.
In order to know about the breast cancer gene, we first have to know a little about breast and ovarian cancer statistics. In the U.S., there is 200,000 cases of breast cancer/year. That is a 10-13% lifetime risk of developing breast cancer if you are a woman. The two most important risk factors for breast cancer is being a woman and getting older.Other risk factors include FH, Early age at first menstrual cycle, late or no pregnancy, hormone replacement medication, alcohol use, obesity, and lack of exerciseThere are approximately 25,000 cases of ovarian cancer per year which gives a lifetime risk of <2%
The vast majority of breast cancers will occur in women who have NO family history of breast cancer and are not linked to heredity or genetics. These nonhereditary cancers are called Sporadic Breast Cancers and are the most common type of breast cancer (see pie chart). The risk of breast cancer increases as a woman ages. It is less likely to occur before age 50. If you live to 90 then your risk of developing breast cancer is 1 in 8 or about 13% even with no family history. Therefore, ALL women over age 40 should be screened for breast cancer with mammograms, even if they have no family history.25% of woman will develop breast cancer with a family history , but there is no known genetic abnormality. Only 10% will develop breast cancer with a mutation of the BRCA gene. It is rare.
The official name of the BRCA mutation is the Hereditary Breast and Ovarian Cancer Syndrome. The syndrome is characterized by a significantly increased risk of breast and ovarian cancer, but it is RARE: only 1 in 800 people will have it. That means we would have to have 8 roomfuls of people like you to find one mutation on average. BUT, it’s more common if you have a Jewish background – which will discuss in a bit. You will learn that most cases are caused by a mutation in the BRCA 1 or 2 gene. We will discuss it’s characteristics, testing and treatment. Hopefully at the conclusion of our discussion you will understand more about the decision Angelina Jolie made and if genetic testing is something you need to be concerned about.
One of the easier mutations to understand is sickle cell anemiaIn Sickle Cell Anemia there is only 1 letter that is out of place and it completely alters the person’s Red Blood Cell.If you look at the top normal chain – the letters spellGTG- ValineCAC-HistidineCTG-LeucineACT-ThreonineCCT-ProlineGAG-Glutamic AcidGAG-Glutamic AcidNow look at the Lower DNA chain: It is all the same except a T is substituted for an A and GTG spells valine not Glutamic acid. That alters the RBC shape so that it is Sickled instead of donut shaped. It cannot carry oxygen as well and therefore the patient develops sickle cell anemia.
The purpose of the previous gene was to make the Red Blood Cells that carry our oxygen. The purpose of the BRCA gene on the other hand is to make proteins that fight changes in your DNA that can occur when normal cells divide. These proteins seek out and eliminate errors that occur. In other words it is a cancer fighter gene. If a change occurs in your normal DNA, then the cell and DNA start to divide rapidly and can become cancer cells. Think of them as speeders on the highway. The purpose of BRCA is to act as a highway patrol man to stop the speeders and not allow them to proceed on to become cancer. There are many of these repair highway patrolmen throughout your DNA – this is just one of them. If your BRCA gene is mutated – it is like the highway patrolmen has a flat tire and is stuck on the side of the road. He can’t catch the speeders and they can go on to become cancer. If the BRCA gene isn’t right this alteration interferes with normal gene activity and makes the person with the altered gene more susceptible to developing breast or ovarian cancer.
This type of mutation is considered autosomal dominant which means that if one of your parents have the gene then you have a 50:50 chance of having the mutation.We are all born with 2 copies of our genes. One from our Mom and one from our Dad. In this slides the little b means normal BRCA gene and the capital B means a mutated BRCA gene. The father has 2 normal BRCA genes and the Mother has one normal and one mutated BRCA gene. The mutated gene is dominant, so the mother has the BRCA syndrome.Look at the 4 children now:1st Daughter – She got the mutated gene from her mother and the normal gene from her father – she is therefore BRCA +2nd Daughter – Normal genes from both parents and therefore she is BRCA-3rd Son – He got the mutated gene from his mother and is therefore BRCA +4th Son – He got two normal genes and is therefore BRCA –Statistics say that if there are 4 children two would be positive and two would be negative. But each child has a 50:50 chance. You could flip a coin 4 times and turn up heads each time. So it would be possible that all 4 could be positive or negative. The only way to know would be to test.
These are the “Red Flags” for women and men who do not have cancer, but are at risk – like Angelina Jolie.
Research on women who have a certain type of cancer called triple negative has shown a very high risk of carrying the breast cancer gene – even without a family history. Triple negative means that the cancer was NOT sensitive to estrogen, progesterone, or Herceptin. If a women has a triple negative breast cancer under age 60 then she is a candidate for testing.Unfortunately, Pancreatic cancer has also been linked to this gene. If two or more people in the family have had pancreatic cancer, this could be a criteria for testing and the gene could be found in 17-19% of those families.The risk of pancreatic cancer is only 0.05 % by age 50 and is .5% by age 70.With the BRCA gene it increases that risk to .5% and 5%Overall it increases the risk of pancreatic cancer 3.5 to 10x over the general population.If you have pancreatic cancer and no family history your risk of having the gene is 5-10%SO the BRCA gene has been linked to breast, ovarian, pancreatic and prostate cancer in men
Now that we have a positive BRCA test there are three main management strategies. SurveillanceChemopreventionProphylactic surgery
If your ovaries are removed, then you will go into menopause. Is it safe to take HRT when you still have breasts with the BRCA gene. Surprisingly it is safe for a short period of time 10-15 years or until natural menopause age. But, only with unopposed estrogen NOT with combination with progesterone. Unfortunately unopposed estrogen increases the risk of uterine cancer. Adding a hysterectomy to BSO would eliminate that risk but is a bigger operation.
The last picture showed mastectomies without reconstruction. Reconstruction has come a long way. In this picture the woman had a mastectomy on one side and has her native breast on the other. Her nipple was removed. Notice that the match is pretty good and the newly created nipple looks fairly normal.
Even newer is nipple sparing mastectomies which in smaller breasted women can give an exceptionally good cosmetic result with preventative surgery. The incision is hidden below the breast so it looks like the breasts are scarless.
Because of concern that genetic mutations could be potentially used against persons who have them, President George Bush signed into law the GINA legislation (Genetic Information Nondiscrimination Act). It is considered a civil rights law and protects persons against losing their health care or their job due to finding a genetic mutation.
If you have red flags – and are concerned about the BRCA mutation – what do you do?Talk to your PCPThey may test or send you to a breast specialist to discuss it further.If your family history is extensive and the test is negative it may be beneficial to see a genetic counselor to see if there are other rare mutations such as p53 or pten. The closest breast genetic counselor is Dr. Klemp in KC
Let’s do a case together: This is Rachel and she is 40. This is her family tree. She has 2 sisters who are affected by cancer – breast and ovarian, a niece with breast her own mother with ovarian. Her mother has passed. Rachel is at significant risk for the BRCA gene mutation. Rachel’s sisters were tested and were positive so they want to test Rachel at the same site of mutation has her sisters.
Here is her test result. She unfortunately is also positive. Remember we get a normal gene from our one parent and the bad gene from the other parent. This is her DNA test showing the deletion of AG at the 185 position. This is one of the most common BRCA one mutations known.
She is positive so let’s discuss what to do about her ovarian cancer risk which is 40-50%.The recommendation would be ovarian removal with or without a hysterectomyOvarian removal decreases risk of breast cancer by over 50%Estrogen is okay but will increase her risk of uterine cancer if she doesn’t have a hysterectomy
Now we discuss her breast options. Remember her risk of cancer is 50-87% depending on what she does with her ovaries and if she goes on tamoxifen.Her options are:ScreeningScreening + tamoxifenPreventative mastectomies.
Her sister both tested positive. Her Brother can consider testing. If he is negative then he can not pass it to his daughter which can lower her anxiety of developing breast and ovarian cancerAs for Rachel’s children – they all have a 50:50 chance of inheriting the gene.
Heather is 38 and has a paternal aunt who had breast cancer at age 41. Is Heather at risk and who would you test if you could test any of these patients?
Why test her aunt – Because if she is positive then her 3 siblings could be tested to see if they inherited the gene. It would also help heather know that the gene does run in her family Why test her Dad first? Because there are three children and if he is positive they are all at risk but if he is negative then none are at risk.
The BRCA gene is rare, but can significantly increase the risk of both breast and ovarian cancer in patient’s who have this mutation.In patient’s who meet criteria, the test can easily be doneIf positive, there are many options available to follow and potentially prevent cancer
This a poster from an old movie staring Madeline Kahn and Gilda Radner. (FIRST FAMILY, 1980) Both women were Jewish and both died of ovarian cancer at young ages. It is very likely that they both had BRCA mutations, but they died before science discovered the genes. The hope is that now that we know about these mutations, we can test and hopefully we can prevent deaths such as with these women.