This document discusses genetic connections to breast cancer. It begins by outlining the learning objectives, which are to understand the importance of collaboration between genetics and non-genetics experts for hereditary breast cancer patients, emphasize obtaining accurate family histories, and discuss benefits and limitations of next generation sequencing panel tests. It then discusses genetic counselors' role in oncology, hereditary cancer risks and patterns, BRCA genes, obtaining family histories, genetic testing options like multi-gene panels, interpreting results, cancer screening recommendations, and prophylactic surgery options. Resources and established risk models are also referenced.
When to Consider Multi-Gene Testing in Early-Stage and Metastatic Breast Cancerbkling
You can’t change your genes, but knowing and acting on your family health history is essential for you and your medical team in developing your treatment plan. The National Comprehensive Cancer Network (NCCN) recommends genetic testing NCCN recommends genetic testing, including the BRCA1/2 genes, for all metastatic breast cancer patients because it could change treatment decisions. Additionally, individuals with early-stage breast cancer may meet testing criteria based on their type of breast cancer or family history.
Our guest speaker Christina (Chrissy) Spears, the Assistant Professor at Ohio State University and helps run the High-Risk Breast Cancer Clinic as a genetic counselor, will discuss not only the common BRCA1/2 tests but the multiple other high-risk gene mutations called expanded panel testing or multi-gene testing to consider. It may also help your family members better understand their risk of breast cancer and other cancers, such as ovarian cancer, prostate cancer or pancreatic cancer.
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.
When to Consider Multi-Gene Testing in Early-Stage and Metastatic Breast Cancerbkling
You can’t change your genes, but knowing and acting on your family health history is essential for you and your medical team in developing your treatment plan. The National Comprehensive Cancer Network (NCCN) recommends genetic testing NCCN recommends genetic testing, including the BRCA1/2 genes, for all metastatic breast cancer patients because it could change treatment decisions. Additionally, individuals with early-stage breast cancer may meet testing criteria based on their type of breast cancer or family history.
Our guest speaker Christina (Chrissy) Spears, the Assistant Professor at Ohio State University and helps run the High-Risk Breast Cancer Clinic as a genetic counselor, will discuss not only the common BRCA1/2 tests but the multiple other high-risk gene mutations called expanded panel testing or multi-gene testing to consider. It may also help your family members better understand their risk of breast cancer and other cancers, such as ovarian cancer, prostate cancer or pancreatic cancer.
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.
Breast cancer is the most common cancer among American women (American Cancer Society), but only 5-10 percent of breast cancer cases are hereditary. Of those cases, roughly 20-25 percent are linked to mutations in the BRCA1 and BRCA2 genes (BRCA stands for BReast CAncer susceptibility). View the infographic above for more on the genetics of breast cancer.
For more information on breast cancer, visit the website for Dana-Farber’s Susan F. Smith Center for Women’s Cancers Breast Oncology Program: http://www.dana-farber.org/Adult-Care/Treatment-and-Support/Breast-Cancer.aspx
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
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.
Strategies for Managing Recurrent Ovarian Cancerbkling
When ovarian cancer returns, it's not uncommon to experience a range of emotions and feel overwhelmed. But it's important to remember that recurrent ovarian cancer can often be successfully treated. Dr. Shannon N. Westin, gynecologic oncologist and clinical investigator at MD Anderson Cancer Center, goes over the latest treatment options for recurrent disease.
The Changing Role of PARP Inhibitors in the Treatment of Ovarian Cancerbkling
In recent years, researchers have been looking into using a class of drugs called PARP inhibitors to prevent the progression and recurrence of ovarian cancer. Dr. Kathleen Moore of Stephenson Cancer Center, Principal Investigator of the SOLO-1 trial, explains how the results of this trial may affect ovarian cancer patients and where research on ovarian cancer treatment is headed next.
Opportunities for Immune Therapy and Preventionbkling
Dr. Margaret Gatti-Mays of the National Cancer Institute, a Staff Clinician of Laboratory of Tumor Immunology and Biology and the Co-Director of the Clinical Trial Group, explores the future of immunotherapy in breast cancer treatment.
While the role of radiation therapy in carcinoma cervix management is undauntable for all stages. Recurrent carcinoma cervix need a lot of personalisation
This deals with novel molecular findings and their implications in Ewings sarcoma. The role of dose dense and dose intense chemotherapy and role of high dose chemotherapy. Additionally it also deals with survivor ship issues
Presentation from Peter Hulick, MD, MMSc, to help nurses and nurse practitioners:
1) Understand the genetic consultation process
2) Examine genetic contribution to breast cancer
3) Identify suggestive family history patterns and risk estimation
4) Influence of genetic testing on management
Taken from a CNE-granting presentation given on 2/17/12 in Highland Park, IL, put together by the Chicago Center for Jewish Genetic Disorders and NorthShore University HealthSystem.
Breast cancer is the most common cancer among American women (American Cancer Society), but only 5-10 percent of breast cancer cases are hereditary. Of those cases, roughly 20-25 percent are linked to mutations in the BRCA1 and BRCA2 genes (BRCA stands for BReast CAncer susceptibility). View the infographic above for more on the genetics of breast cancer.
For more information on breast cancer, visit the website for Dana-Farber’s Susan F. Smith Center for Women’s Cancers Breast Oncology Program: http://www.dana-farber.org/Adult-Care/Treatment-and-Support/Breast-Cancer.aspx
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
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.
Strategies for Managing Recurrent Ovarian Cancerbkling
When ovarian cancer returns, it's not uncommon to experience a range of emotions and feel overwhelmed. But it's important to remember that recurrent ovarian cancer can often be successfully treated. Dr. Shannon N. Westin, gynecologic oncologist and clinical investigator at MD Anderson Cancer Center, goes over the latest treatment options for recurrent disease.
The Changing Role of PARP Inhibitors in the Treatment of Ovarian Cancerbkling
In recent years, researchers have been looking into using a class of drugs called PARP inhibitors to prevent the progression and recurrence of ovarian cancer. Dr. Kathleen Moore of Stephenson Cancer Center, Principal Investigator of the SOLO-1 trial, explains how the results of this trial may affect ovarian cancer patients and where research on ovarian cancer treatment is headed next.
Opportunities for Immune Therapy and Preventionbkling
Dr. Margaret Gatti-Mays of the National Cancer Institute, a Staff Clinician of Laboratory of Tumor Immunology and Biology and the Co-Director of the Clinical Trial Group, explores the future of immunotherapy in breast cancer treatment.
While the role of radiation therapy in carcinoma cervix management is undauntable for all stages. Recurrent carcinoma cervix need a lot of personalisation
This deals with novel molecular findings and their implications in Ewings sarcoma. The role of dose dense and dose intense chemotherapy and role of high dose chemotherapy. Additionally it also deals with survivor ship issues
Presentation from Peter Hulick, MD, MMSc, to help nurses and nurse practitioners:
1) Understand the genetic consultation process
2) Examine genetic contribution to breast cancer
3) Identify suggestive family history patterns and risk estimation
4) Influence of genetic testing on management
Taken from a CNE-granting presentation given on 2/17/12 in Highland Park, IL, put together by the Chicago Center for Jewish Genetic Disorders and NorthShore University HealthSystem.
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.
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.
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/
Understanding Cancer Risks Using Genetic Lab tests.pptxHasna Zameer
A test for genes can be used in many ways. One application for gene testing is the detection of cancer. As an example, Cardiology genetics testing Dubai may be very useful to identify cancerous cells inside a patient's heart.
Similar to Genetic Connections to Breast Cancer - February 14, 2023 (20)
The COVID-19 pandemic has created several challenges for our country’s health care infrastructure, and the community health center workforce is no exception. Join us as we describe strategies to get patients back into dental care. Along with these strategies, participants will learn how to recognize challenges in dental practices, as well as how to engage the interdisciplinary care team through role redesign and integration to increase access to comprehensive care.
NTTAP Webinar Series - June 7, 2023: Integrating HIV Care into Training and E...CHC Connecticut
In order for health centers to provide compassionate and respectful HIV prevention, care, and treatment in comprehensive primary care settings, the clinical workforce must be knowledgeable, confident, and competent in their ability to do so.
We’ll explore the need to integrate HIV care into training and education for the clinical care team, as well as educational models to train the next generation. Using Community Health Center Inc.’s Center for Key Populations Fellowship for Nurse Practitioners (NPs) as a framework for best practices, experts will discuss how to implement specialty care for key populations in your training programs. Additionally, participants will gain awareness of the importance of training the clinical workforce on key population competencies in HIV programs (e.g. HCV, MOUD, LGBTQI+ health, homelessness, and harm reduction).
Utilizing the Readiness to Train Assessment Tool (RTAT™) To Assess Your Capac...CHC Connecticut
Improve educational training experiences at your health center by assessing your capacity and infrastructure to host health professions students.
Join the upcoming hands-on interactive activity session to learn how to utilize the Readiness to Train Assessment Tool (RTAT™). This tool was developed by HRSA-funded National Training and Technical Assistance Partners (NTTAP) at Community Health Center, Inc. (CHC) to understand organizational readiness to host health professions student training programs.
NTTAP Webinar Series - May 18, 2023: The Changing Landscape of Behavioral Hea...CHC Connecticut
The COVID-19 pandemic has resulted in significant shifts in the mode of care from face-to-face to virtual interactions. Join us as we discuss the challenges currently facing behavioral health care and at least one strategy for each. Along with these strategies, panelists will go over what integrated behavioral health care was and is before and following COVID-19, as well as what actions should be taken going forward to increase access to comprehensive care.
Panelists:
• Dr. Tim Kearney, PhD, Chief Behavioral Health Officer, Community Health Center, Inc.
• Melinda Gladden, LCSW, PMHC, Behavioral Health Clinician, Community Health Center, Inc.
• Jodi Anderson, LMFT, Virtual Telehealth Group Coordinator, Community Health Center, Inc.
NTTAP Webinar Series - April 13, 2023: Quality Improvement Strategies in a Te...CHC Connecticut
Join us for a webinar on quality improvement in team-based care!
Building a quality improvement (QI) infrastructure within team-based care is an organizational strategy that will establish a culture of continuous improvement across departments and improve quality in all domains of performance.
Participants will learn about:
• QI infrastructure
• Facilitating QI committees
• Coach training within health centers
Faculty will also provide an example of how trained coaches use QI tools to test and implement changes within an organization.
Implementation of Timely and Effective Transitional Care Management ProcessesCHC Connecticut
Join us to discuss best practices for integrating daily follow-ups for patients recently hospitalized for health emergencies. Effectively following up with patients is a critical responsibility for integrated care teams.
Experts will share how their teams respond to patients to identify care gaps and support the transition of care. Workflow descriptions will provide participants with the tools to support their work to adapt specific steps into their model of team-based care.
Panelists:
• Mary Blankson, DNP, APRN, FNP-C, FAAN, Chief Nursing Officer, Community Health Center, Inc.
• Veena Channamsetty, MD, FAAFP, Chief Medical Officer, Community Health Center, Inc.
• Bibian Ladino-Davis, Behavioral Health Coordinator, Weitzman Institute
Implement Behavioral Health Training Programs to Address a Crucial National S...CHC Connecticut
Health centers are uniquely positioned to address the unprecedented need for behavioral health services but are challenged by the workforce shortage. Participants will gain the knowledge needed to begin conceptualization of a training pathway.
Join us to discuss the considerations of sponsoring an in-house training program across all educational levels, including the benefits, program structure, design, curriculum, supervisors' role, and required resources.
Experts will provide participants with examples from practicum and postdoctoral level training programs to help them gain confidence in developing a behavioral health training pathway.
HIV Prevention: Combating PrEP Implementation ChallengesCHC Connecticut
Expert faculty present case-based scenarios illustrating common challenges to integrating HIV PrEP in primary care. As part of improving clinical workforce development, this session will delve into a variety of specific PrEP implementation challenges. Participants will leave with strategies to overcome these obstacles to establish or strengthen their PrEP program.
Panelists:
• Marwan Haddad, MD, MPH, AAHIVS, Medical Director, Center for Key Populations, Community Health Center, Inc.,
• Jeannie McIntosh, APRN, FNP-C, AAHIVS, Family Nurse Practitioner, Center for Key Populations, Community Health Center, Inc.
NTTAP Webinar Series - December 7, 2022: Advancing Team-Based Care: Enhancing...CHC Connecticut
Join us as expert faculty outline the differences between case management, care coordination and complex care management to frame up a discussion on strategies to leverage effective models for both in-person and remote services.
Expert faculty will discuss the role of the medical assistant and the nurse in care management, as well as how standing orders and delegated orders support this work. This session will discuss how telehealth and remote patient monitoring enhancements can support complex care management for patients with chronic conditions.
Participants will leave this session with the knowledge and tools to begin or enhance implementation of chronic care management by enhancing the role of the medical assistant, nurse and the technology that supports the clinical care.
Panelists:
• Mary Blankson, DNP, APRN, FNP-C, Chief Nursing Officer, Community Health Center, Inc.
• Tierney Giannotti, MPA, Senior Program Manager, Population Health, Community Health Center Inc.
NTTAP Webinar: Postgraduate NP/PA Residency: Discussing your Key Program Staf...CHC Connecticut
Expert faculty will discuss the drivers, benefits, and processes of implementing a postgraduate residency training program at your health center. This session will dive deeper into a discussion on the responsibilities of key program staff, preceptors, mentors, and faculty for successful implementation. This webinar will equip participants with a road map to go from planning to implementation and offer an opportunity for coaching support.
Panelists:
• Program Director of the Nurse Practitioner Residency Program, Charise Corsino, MA
• Clinical Program Director of the Nurse Practitioner Residency Program, Nicole Seagriff, DNP, APRN, FNP-BC
Training the Next Generation within Primary CareCHC Connecticut
This webinar discussed the various avenues of workforce development including:
• training non-clinical roles
• the value of an administrative fellowship
• the key questions to ask before establishing a fellowship at your agency
The discussion referenced CHC Chief Operating Officer Meredith Johnson and CHC Project Manager Megan Coffinbargar’s publication “Establishing an Administrative Fellowship Program: A Practical Toolkit to Support and Develop Future Community Health Center Leaders” for the National Association of Community Health Centers (NACHC).
Panelists:
• April Joy Damian, PhD, MSc, CHPM, PMP, Vice President and Director of the Weitzman Institute, Community Health Center, Inc.
• Megan Coffinbargar, MHA, Project Manager, Optimizing Virtual Care Initiative, Community Health Center, Inc.
This webinar discussed the value of chiropractic treatment as a primary care intervention. Our panelists discussed the role of chiropractic specialists in the primary care team and reviewed the integration of chiropractic services.
Panelists:
• Margaret Flinter, PhD, APRN, FAAN, Senior Vice President and Clinical Director, Community Health Center, Inc.
• Veena Channamsetty, MD, FAAFP, Chief Medical Officer, Community Health Center, Inc.
• James J. Lehman, DC, MBA, DIANM, Director of Health Sciences Postgraduate Education, University of Bridgeport, Chiropractic Orthopedist, Community Health Center, Inc.
• Lesly Valbrun, DC, MPH, MBA(c), Chiropractic Resident, University of Bridgeport, Community Health Center, Inc.
Biological screening of herbal drugs: Introduction and Need for
Phyto-Pharmacological Screening, New Strategies for evaluating
Natural Products, In vitro evaluation techniques for Antioxidants, Antimicrobial and Anticancer drugs. In vivo evaluation techniques
for Anti-inflammatory, Antiulcer, Anticancer, Wound healing, Antidiabetic, Hepatoprotective, Cardio protective, Diuretics and
Antifertility, Toxicity studies as per OECD guidelines
Welcome to TechSoup New Member Orientation and Q&A (May 2024).pdfTechSoup
In this webinar you will learn how your organization can access TechSoup's wide variety of product discount and donation programs. From hardware to software, we'll give you a tour of the tools available to help your nonprofit with productivity, collaboration, financial management, donor tracking, security, and more.
The Roman Empire A Historical Colossus.pdfkaushalkr1407
The Roman Empire, a vast and enduring power, stands as one of history's most remarkable civilizations, leaving an indelible imprint on the world. It emerged from the Roman Republic, transitioning into an imperial powerhouse under the leadership of Augustus Caesar in 27 BCE. This transformation marked the beginning of an era defined by unprecedented territorial expansion, architectural marvels, and profound cultural influence.
The empire's roots lie in the city of Rome, founded, according to legend, by Romulus in 753 BCE. Over centuries, Rome evolved from a small settlement to a formidable republic, characterized by a complex political system with elected officials and checks on power. However, internal strife, class conflicts, and military ambitions paved the way for the end of the Republic. Julius Caesar’s dictatorship and subsequent assassination in 44 BCE created a power vacuum, leading to a civil war. Octavian, later Augustus, emerged victorious, heralding the Roman Empire’s birth.
Under Augustus, the empire experienced the Pax Romana, a 200-year period of relative peace and stability. Augustus reformed the military, established efficient administrative systems, and initiated grand construction projects. The empire's borders expanded, encompassing territories from Britain to Egypt and from Spain to the Euphrates. Roman legions, renowned for their discipline and engineering prowess, secured and maintained these vast territories, building roads, fortifications, and cities that facilitated control and integration.
The Roman Empire’s society was hierarchical, with a rigid class system. At the top were the patricians, wealthy elites who held significant political power. Below them were the plebeians, free citizens with limited political influence, and the vast numbers of slaves who formed the backbone of the economy. The family unit was central, governed by the paterfamilias, the male head who held absolute authority.
Culturally, the Romans were eclectic, absorbing and adapting elements from the civilizations they encountered, particularly the Greeks. Roman art, literature, and philosophy reflected this synthesis, creating a rich cultural tapestry. Latin, the Roman language, became the lingua franca of the Western world, influencing numerous modern languages.
Roman architecture and engineering achievements were monumental. They perfected the arch, vault, and dome, constructing enduring structures like the Colosseum, Pantheon, and aqueducts. These engineering marvels not only showcased Roman ingenuity but also served practical purposes, from public entertainment to water supply.
The French Revolution, which began in 1789, was a period of radical social and political upheaval in France. It marked the decline of absolute monarchies, the rise of secular and democratic republics, and the eventual rise of Napoleon Bonaparte. This revolutionary period is crucial in understanding the transition from feudalism to modernity in Europe.
For more information, visit-www.vavaclasses.com
Embracing GenAI - A Strategic ImperativePeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
Acetabularia Information For Class 9 .docxvaibhavrinwa19
Acetabularia acetabulum is a single-celled green alga that in its vegetative state is morphologically differentiated into a basal rhizoid and an axially elongated stalk, which bears whorls of branching hairs. The single diploid nucleus resides in the rhizoid.
2. Learning Objectives
By the end of this session, attendees will be able to:
• Understand the importance of developing a collaborative
partnership of non-genetics and genetics experts to address
the growing number of patients at risk for hereditary breast
cancer.
• Emphasize the importance of obtaining an accurate family
history with continual updates.
• Discuss the benefits and limitations of Next Generation
Sequencing Panel Tests.
2
3. Delivery of Hereditary Cancer Care
• Today, there are many healthcare providers
who participate in the delivery of cancer risk
assessment and testing.
• A collaborative healthcare team composed of
non-genetics and genetics experts is ideal to
address the growing number of patients at
risk for hereditary breast cancer.
5. What is the
Role of a
Genetic
Counselor
in
Oncology?
• Referrals may be done to a genetic
counselor by a physician or another
member of the medical team to discuss
family history and genetic risks, or
before or after having genetic testing.
• Genetic Counselors help patients
understand:
– Their genetic risks based on their
family history.
– Their genetic risks for certain
cancers or other diseases.
– Whether genetic testing might be
right for them.
– What the results of genetic tests
may mean for them and their family.
6. Cancer
Most cancers occur in people who
do not have a strong family history
of that specific cancer: SPORADIC
Some families have more of the
same kind or related kinds of
cancer than expected in the general
population with no specific pattern
of inheritance, likely caused by a
combination of genetic and
environmental factors: FAMILIAL
7. Hereditary
Cancer
• Those individuals in which
cancer is passed down
generation through
generation by inheriting
pathogenic variants:
HEREDITARY
• Only 5-10% cancers
8. BRCA Genes
• Dr. Mary-Claire King
• BRCA1 gene
discovered in 1994
• BRCA2 gene
discovered in 1995
• Hereditary Breast
and Ovarian Cancer
9. Hereditary
Cancer
Determining which families have
cancer related to an inherited
gene mutation is important since
the cancer risks in hereditary
cancer families are much higher
than the general population.
Following published guidelines for
increased surveillance,
chemoprevention and preventive
surgeries cancer risks have been
reduced in many individuals with
inherited cancer predispositions.
10. Family
History
Obtaining a three
generation pedigree is a
very powerful tool
including:
– Type of cancer
– Age of diagnosis
– Ethnicity
– Results of any cancer
testing in any relative
11. Hereditary Risk
• Recognizing a patient’s hereditary risk may
identify:
– risks for certain cancers
– treatment options
– at-risk family members
– long-term management
12. Genetic
Red Flags
• Family history of multiple affected
relatives
• Condition in the less often affected
sex
• A known mutation in a cancer
susceptibility gene
• Earlier age at onset of disease than
expected
• Multiple primary tumors in the
same person
• Bilateral disease
• Non-cancer findings suggestive of a
syndrome
• Ethnic predisposition
• Consanguinity
• Autosomal dominant inheritance
pattern
14. Pathogenic
Variants
• Patients who have an increased
risk for cancer may have
germline testing using a saliva
or blood sample to identify
pathogenic variants
• In addition, a genomic tumor
test(somatic testing) may
identify that a patient has a
hereditary cancer syndrome.
15. Goal of Genomic Tumor Testing
• Identify biomarkers that have
predictive or therapeutic
significance for an active
cancer.
• Some of the DNA variants detected
are relevant for therapeutic
decisions can also be associated
with hereditary cancer risks
(e.g., BRCA1, BRCA2).
17. Lifetime cancer risks associated with
HBOC
Cancer Type
BRCA1 BRCA2 General
Population
Breast >60% >60% 12.3%
Male Breast 1.2% 7-8% 0.1%
Ovarian 39-58% 13-29% 1.6%
Pancreatic ≤5% 5-10% 1.6%
Prostate Increased* 15-20%* 12%
Melanoma No increase Increased 2.3%
*prostate cancer risks for BRCA1/2 carriers by age 65
18. Prevalence of HBOC
• About 5-10% of breast cancer and 10-15% of ovarian
cancers are attributed to HBOC.
• An estimated 1 in 333-500 individuals in the general
population have a disease-causing BRCA1 or BRCA2
mutation.
• About 1 in 40 individuals of Ashkenazi Jewish ancestry carry
a BRCA1 or BRCA2 mutation.
• Tend to develop cancer at an earlier age than the general
population.
18
19. Criteria for referral
• A known mutation in a cancer susceptibility gene
• Ovarian cancer
• Male breast cancer
• Pancreatic cancer
• Prostate cancer
• Breast cancer diagnosed ≤ 45
• Breast cancer diagnosed > 45 with family history of
related cancers
• Triple negative breast cancer diagnosed at any age
• Two primary tumors in the breast
• Ashkenazi Jewish ancestry and breast cancer at any
age
• BRCA1/2 mutation identified in tumor profiling
20. Other genes that Contribute to Breast
and Ovarian Cancer
• Other hereditary cancer syndromes that
increase the risk for breast cancer
– Cowden syndrome: PTEN
– Li-Fraumeni syndrome: TP53
• The presentation of these syndromes in a
family may overlap with HBOC
• But can have characteristic features
• Other moderate genes risk genes
21. Multigene
Panel
Testing
Genetic Testing has expanded due
to new technology utilizing Next
Generation Sequencing (NGS)
technology which allows for rapid
and inexpensive analysis of large
chunks of the genome
Multigene NGS panels allow
simultaneous sequencing of many
genes associated with a specific
family cancer phenotype or
multiple phenotypes
22. Identification
of Carriers of
Pathogenic
Variants
Important to identify patients at
risk for other breast cancer
syndromes. Multi-gene panels
are increasingly recommended
For example TP53, PALB2, PTEN
Knowledge of these other genes
can influence radiation therapy
and chemotherapy decisions
23. Benefits of
Multi-Gene
Panel Testing
for Breast
Cancer Risk
Provides better diagnostic yield
compared with a limited BRCA1/2
genetic test for patients at risk for
hereditary breast cancer or
individuals diagnosed with breast
cancer.
In a retrospective comparison of
multiple genetic tests there was no
difference between the multi-gene
panel test and the limited BRCA1/2
test in the detection of potentially
harmful BRCA pathogenic variants.
25. Risks of
Multigene
Testing
Results can be complicated to
interpret
Testing may find gene mutations
that show a moderate or
uncertain risk of cancer
It may be hard to know what
you should do with the results
26.
27.
28.
29. Positive
Test Result
• If identified:
– Increased risk for certain types of
cancer
– Different mutations are linked to
increased risks for different types of
cancers
– The risks may differ for the different
mutations
– Some are very high, others less but
– Still more than the general public
30. Positive
Test
Result
May be offered special or more frequent
cancer screening exams to find any
cancers that develop as early as possible:
dependent on the specific mutated genes
Originally there were concerns that some
mutations on multi-gene panels have no
clear guidelines about the best screening
exams to use or how often
NCCN guidelines are increasing
31. Prophylactic
Surgery • Patients may be offered certain types of
surgeries that may help reduce risk of
developing cancer
– Most commonly mastectomy,
oophorectomy and hysterectomy
32. Family
members
If an individual is positive for a genetic
mutation then family members may
also carry this same mutation
1st degree relatives at 50% risk to have
inherited same mutation, 2nd degree
relatives 25%, 3rd degree relatives
12.5%
A genetic counselor can help identify
who in the family is at risk of having
the mutation, who should be tested
and when they should be tested
33. Negative
Test
Result
You could have a pathogenic
variant in a gene but technology
not there yet.
Some types of cancer may occur
in several people in a family
without being caused by a
genetic mutation.
There may be a pathogenic
variant in other members of your
family but you did not inherit it.
34. Variant of
Uncertain
Significance
(VUS)
Seen in affected and not affected
These are single nucleotide DNA
polymorphisms that are neither
confirmed benign nor pathogenic
Rates are going down and there
are ACMG guidelines and lab data
available
35. VUSs
• More are found in individuals
with non-European ancestry who
have been historically
underrepresented in genomic
research.
• The classification of a variant
– benign, uncertain, or
pathogenic – can change over
time as labs generate more data
about specific variants.
• In some cases, a VUS may be
reclassified as "actionable" as
new data is obtained.
36. Established Models
• The risk of developing breast cancer can be
calculated utilizing various models
– Tyrer-Cuzick
– Gail
– Claus
• These typically have short-term and long-term
cancer risk estimates
• Other factors that can increase risk include such
factors as family history, reproductive history, and
number of biopsies.
37. Resources and References
• American College of Obstetricians and Gynecologists (2019) Committee Opinion
#793: Hereditary Cancer Syndromes and Risk Assessment
• American Society of Clinical Oncology(2020) Hereditary Breast and Ovarian
Cancer
• Berliner J.et al(2021). Risk Assessment and Genetic Counseling for Hereditary
Breast and Ovarian Cancer Syndromes-Practice Resource of the National Society
of Genetic Counselors
• Jackson Laboratories Hereditary Cancer Modules
• National Comprehensive Cancer Network(v.1.2022): Genetic/Familial High- Risk
Assessment: Breast, Ovarian and Pancreatic
37
Editor's Notes
Nccn guidelines
Powerful tool but needs to be updated
In addition to the National Comprehensive Cancer Network (NCCN) guidelines for identifying patients appropriate for genetic testing there are numerous assessment tools including those online.
:
Autosomal dominant inheritance
Affected individuals in every generation
Any child of an affected individual has a 50% chance of inheriting the trait; unaffected family members do not pass it to their children
Males and females equally likely to be affected (although there may be sex-limited expression, such as with ovarian cancer)
Multiple genes can contribute to the breast/ovarian cancer phenotype or other phenotypes
Higher mutation detection rate reduces the number of families with uninformative results Increase the number of patients who can be provided tailored surveillance, risk reduction options and testing of at risk family members
TP53 Li Fraumeni rare inherited disease that greatly increases one’s risk for developing cancer during their lifetime LFS develop multiple cancers and multiple tumors often in childhood or as young adults osteosarcoma, breast, brain, acute leukemia, adrenal cortical tumors, melanoma Wilms tumor of the kidney had stomach colon, pancreas
By analyzing additional clinically actionable genes, we see that a population of 1951 breast cancer patients would benefit from an increase in mutation detection by ~46%. There are significant number of mutation carriers that would be missed and therefore, undermanaged. Patients associated with hereditary colon cancer or ovarian cancer are also expected to see a similar increase in mutation detection with additional genes analyzed.
Risks and Benefits of Genetic Testing
Genetic Testing can have emotional effects especially if a mutation is found
It can impact other family members
Some may not want to know
To
Those found to have the gene but who currently do not have cancer may choose prophylactic surgery
Whether affected or not
Familial Cancer
Some patients are quite concerned because they want to know do I have a mutation or not
Seen in affected and not