Genetic counseling involves assessing a person's risk of hereditary cancers through their family history, medical history, and genetic testing. It determines who should be tested, how to test via methods like PCR, MLPA, or NGS, and implications of results. For ovarian cancer, individuals meeting criteria like breast cancer under 50 or multiple primaries are offered BRCA1/2 testing. A pathogenic BRCA result increases breast and ovarian cancer risk up to 80% and 40% respectively. Management includes increased screening and risk-reducing surgeries and drugs. Relatives are also at higher risk and should consider counseling.
All in the Family: Hereditary Risk for Gynecologic Cancerbkling
Knowing and understanding your inherited genetics is important for ovarian and uterine cancer patients. Dr. Melissa Frey, gynecologic oncologist at Weill Cornell Medicine, discusses how genetic factors affect women with ovarian and uterine cancer and influence treatment decisions, with a particular focus on BRCA1 & 2 and Lynch Syndrome.
This webinar was being put on in partnership with FORCE.
Advance in diagnosis & treatment of cancers has led to high cure rate & longer survival.
Nearly 1 in 12 cases detected before 40 years age.
Survivors have to face infertility or early menopause.
All in the Family: Hereditary Risk for Gynecologic Cancerbkling
Knowing and understanding your inherited genetics is important for ovarian and uterine cancer patients. Dr. Melissa Frey, gynecologic oncologist at Weill Cornell Medicine, discusses how genetic factors affect women with ovarian and uterine cancer and influence treatment decisions, with a particular focus on BRCA1 & 2 and Lynch Syndrome.
This webinar was being put on in partnership with FORCE.
Advance in diagnosis & treatment of cancers has led to high cure rate & longer survival.
Nearly 1 in 12 cases detected before 40 years age.
Survivors have to face infertility or early menopause.
Fertility preservation in Cancer patientsArunSharma10
The need for fertility preservation
Chemotherapeutic drugs according to gonadotoxicity level
Fertility preservation: subject of continuous review by experts
Non-oncological conditions requiring fertility preservation
Delayed childbearing
AVAILABLE PROCEDURES FOR FP
Embryo and oocyte cryopreservation
Report Back from SGO: What’s the Latest in Uterine Cancer?bkling
Dr. Jeannine Villella, Chief of Gynecologic Oncology at Lenox Hill Hospital, provides a comprehensive update from the Society of Gynecologic Oncology (SGO) Annual Meeting on Women’s Cancer. Dr. Villella breaks down what the research presented at the conference means for you and discusses new developments.
Dr. Jennifer Mueller, gynecologic cancer surgeon at Memorial Sloan Kettering Cancer Center, will share research updates on uterine/endometrial cancer and other new developments in treatment and surgery.
Role of Stem Cells in Obstetrics and Gynecology PracticeAsha Jain
Role of Stem Cells in Obstetrics and Gynecology Practice
Talk delivered at 4th Biennial International ISCSGCON 2021
on Febuary 13,2021 by Dr. Asha Jain
Say no to cervical cancer-PUBLIC Awareness-Life Care Centre_Dr.Sharda JainLifecare Centre
Cervical Cancer in INDIA
Say no to cervical cancer
Dr.Sharda Jain
Life Care Centre
PUBLIC Awareness_Dr.Sharda Jain
HPV Infection
HPV Vaccination
Cervical Screening
SEE & TREAT Programme tp Prevent Cervical Cancer
Fertility preservation in Cancer patientsArunSharma10
The need for fertility preservation
Chemotherapeutic drugs according to gonadotoxicity level
Fertility preservation: subject of continuous review by experts
Non-oncological conditions requiring fertility preservation
Delayed childbearing
AVAILABLE PROCEDURES FOR FP
Embryo and oocyte cryopreservation
Report Back from SGO: What’s the Latest in Uterine Cancer?bkling
Dr. Jeannine Villella, Chief of Gynecologic Oncology at Lenox Hill Hospital, provides a comprehensive update from the Society of Gynecologic Oncology (SGO) Annual Meeting on Women’s Cancer. Dr. Villella breaks down what the research presented at the conference means for you and discusses new developments.
Dr. Jennifer Mueller, gynecologic cancer surgeon at Memorial Sloan Kettering Cancer Center, will share research updates on uterine/endometrial cancer and other new developments in treatment and surgery.
Role of Stem Cells in Obstetrics and Gynecology PracticeAsha Jain
Role of Stem Cells in Obstetrics and Gynecology Practice
Talk delivered at 4th Biennial International ISCSGCON 2021
on Febuary 13,2021 by Dr. Asha Jain
Say no to cervical cancer-PUBLIC Awareness-Life Care Centre_Dr.Sharda JainLifecare Centre
Cervical Cancer in INDIA
Say no to cervical cancer
Dr.Sharda Jain
Life Care Centre
PUBLIC Awareness_Dr.Sharda Jain
HPV Infection
HPV Vaccination
Cervical Screening
SEE & TREAT Programme tp Prevent Cervical Cancer
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/
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
Radiotherapy and Cetuximab in head and neck cancer.pptxNamrata Das
Radiotherapy and Cetuximab in head and neck cancer
Bonner trial
RTOG 0522
TREMPLIN
RTOG 1016
De-Escalate trial
TROG
HN.6
PembroRAD
Nimotuzumab
Panitimumab
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NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
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.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
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
Maxilla, Mandible & Hyoid Bone & Clinical Correlations by Dr. RIG.pptx
Testing, genetic counselling and its implications in Gynaecological Cancers
1. Testing, genetic counseling and its
implication in gynaecological
cancers
Dr. Namrata Das
Junior Resident
Radiotherapy and Oncology
Moderator: Dr. C. K. Das
2. Overview
• Genetic counseling
What is genetic counseling?
Whom to test?
How to test?
What are it’s implications?
• Genetic counseling in carcinoma ovary
HBOC
• Genetic counseling in carcinoma
endometrium
Lynch Syndrome
• Li-Fraumeni Syndrome
• Cowden Syndrome
• PGIMER Experience and Workflow
3.
4.
5. • Mutations associated
with increased risk of
cancer
• High penetrance
phenotype
• Germline mutation
• Transmission to offspring
from mother or father
• Early onset
• Autosomal dominant
• Occur more frequently
in a family
• No typical inheritance
pattern
• Age of onset variable
• Maybe chance
clustering/ genetic
variation in low
penetrance genes/
shared environment/
combination
HEREDITARY CANCERS FAMILIAL CANCER
7. Genetic Counseling
Process by which patients, families and clinicians are informed about the
inheritance pattern, genetic and genomic basis of traits and clinical
disorders.
Covers four main aspects:
1.Diagnostics
1.Management
and preventive
measures
Risk calculation 1.Support
8. Areas requiring genetic counseling
• Prenatal and preconception
• Paediatrics: with/suspected genetic conditions and family
• Cancer genetics
• Cardiovascular
• Infertility, artificial reproduction, pre-implantation genetics
• Neurogenetics, psychiatric genetics
9. Genetic counseling in India
Clinicians –
gynaecologists, paediatricians, oncologists
APC PGIMER,AIIMS New Delhi, SGPGI Lucknow – provides DM degrees in
Clinical genetics
Genetic counsellor
USA, Canada: genetic counsellors possess a MS degree in genetic
counseling
Training courses and genetic counseling programmes are now available in
India in a few institutes
10. Cancer genetic counseling
It is a communication
process between a health
care professional and an
individual concerning
cancer occurrence and risk
in his or her family
Genetic
assessment
Medical
assessment
Psychological
assessment
Information
and
counseling
regarding
intervention
13. Pre-Testing Assessment
PATIENT
NEEDS AND
CONCERNS
Knowledge of
genetic testing
for cancer risk,
including
benefis, risks
and limitations
Goals for
cancer family
risk
assessment
DETAILED
MEDICAL AND
SURGICAL
HISTORY
Carcinogen exposure (eg,
history of radiation
therapy)
Personal cancer history
(eg, age, histology,
laterality)
History of salpingo-
oophorectomy
Previous breast biopsies
and pathology results
Hormone or oral
contraceptive use
Reproductive history
DETAILED
FAMILY
HISTORY
Expanded
pedigree:
three
generations
FOCUSED
PHYSICAL
EXAM
14. Family History
Points to be noted:
1. Types of cancer
2. Bilaterality
3. Age at diagnosis
4. History of
chemoprevention and/or risk-
reducing surgery
5. Prior genetic testing
results for patient and their
family members and
pathology reports of primary
cancers
16. Criteria for further genetic risk evaluation
Any age with known pathogenic
variant in a cancer susceptibility
gene in family/ tumour tissue
Any age, diagnosed with:
1. Ovarian cancer
2. Pancreatic cancer
3. Metastatic prostate cancer
4. Breast/prostate cancer in Ashkenazi
Jewish population
Breast cancer diagnosed:
1. <= 50 years
2. TNBC diagnosed <= 60 years
3. Two breast primaries
4. Close relative with breast cancer <= 50 years/
invasive ovarian cancer/ male breast cancer/pancreatic
cancer/high grade (>7 GS) prostate cancer
5. >= 2 blood relatives with breast cancer at any age
>= 3 members: breast cancer,
sarcoma, adrenocortical
carcinoma, brain tumour,
leukemia
>=3 members: colon cancer,
endometrial cancer, thyroid
cancer, kidney cancer,
dermatological manifestations,
macrocephaly, hamartomatous
polyps of GIT
Breast cancer, GI malignancy,
hamartomatous polyp, ovarian
sex chord tumour, childhood
skin pigmentation
18. Post-test counseling
• Results along with their significance and impact and
recommended medical management options
• Interpretation of results in context of personal and family
history
• Informing and testing at-risk family members
• Available resources such as disease specific support groups
and research studies
21. Female Lifetime Risk of Cancer
• Ovarian Cancer: General population-1.4%/One first-degree relative-4.2%
• Breast Cancer: General population-12.4%/One first-degree relative-24%
• Endometrial Cancer-2.6%
22. Gynecologic Genetic Cancer Syndromes
Hereditary Breast Ovary Cancer Syndrome
Lynch Syndrome
Cowden Syndrome
Li-Fraumeni Syndrome
Peutz-Jeghers Syndrome
Gorlin Syndrome
10-15%
23. 1. Early age of onset Carcinoma breast
2. Multiple family members on the same side of the
pedigree with the same cancer
< 50 years for breast, colon,
uterine cancer
3. Clustering of cancers in the family known to be
caused by a single gene mutation
Breast/ovarian/pancreatic
Colon/uterine/ovarian
Colon/desmoid tumours/osteoma
4. Multiple primary cancers in the same patient Breast/ovarian cancer
5. Ethnicity Ashkenazi Jews
6. Unusual presentation of cancer/tumour Breast cancer in male
Medullary carcinoma thyroid
7. Pathology TNBC
27. Genetic testing approach:
•Family with cancers highly associated with a particular
cancer susceptibility gene: test youngest (at
diagnosis), bilateral disseminated disease, multiple
primary cancers
•Risk to relatives: advise about possible inherited
cancer risk of relatives
•Reproductive organs: pre-implantation genetic
diagnosis
28. Genetic Counseling
What is genetic counseling?
Whom to test?
How to test?
What are it’s implications?
Carcinoma ovary Carcinoma endometrium
29. Factor Relative Risk
Hx of Breast Cancer
None 1.0
1st Degree Relative 2.1
Personal History 10
Hx of Ovarian Cancer
None 1.0
One 1st Degree Relative 3.1
>2 1st Degree Relatives 4-15
Hereditary Cancer Syndrome 12-30
Genetic Counseling in carcinoma ovary
32. BRCA mutation cancer risks
Cancer General
Population
BRCA1 BRCA2
Breast 12% 40-80% 40-70%
Ovarian 1% 24-40% 11-18%
Male Breast 0.1% 1-2% 5-10%
Prostate 15-18% <30% 39%
Pancreatic 0.5% 1-3% 2-7%
35. BRCA1/2 Testing criteria
Age <= 45 years
Age (45-50 years): additional
breast primary/ >=1 blood
relative with breast cancer/ >=
1 blood relative with high grade
prostate cancer
Any age:
- >=1 relative with breast cancer diagnosed
<=50 years
- Ovarian cancer
-male breast cancer
- Metastatic prostate cancer
- Pancreatic cancer
<= 60 years with TNBC
Personal History of
male breast cancer
Personal history of
pancreatic cancer
Personal history of
metastatic prostate
cancer
Personal history of high grade
prostate cancer (>= 7 GS) with
- >= 1 relative with ovarian,
pancreatic, metastatic prostate at any
age
- Breast cancer < 50 years
- Ashkenazi Jewish ancestry
BRCA1/2 pathogenic/likely
pathogenic variant detected
by tumour profiling in
absence of germline testing
Regardless of family
history, BRCA testing
to determine eligibility
for targeted treatment
An individual not meeting
above criteria but with >= 1
first and second degree
relative meeting any of the
above criteria
Personal history of breast cancer + one of following:
41. Breast and Ovarian Cancer Management Based
on Genetic Test Results
Gene Breast Cancer Risk and Management Ovarian Cancer Risk and
Management
Other Cancer modification
BRCA1 Increased risk Increased risk Prostate Cancer
BRCA2 Increased risk Increased risk Pancreas, prostate,
melanoma
ATM Increased risk
• Screening
• Risk reducing mastectomy (RRM):
insufficient evidence
Potential increase in risk,
insufficient evidence for Risk
Reducing Salpingo-
oophorectomy (RRSO)
BRIP1 Unknown Increased: consider RRSO at
45-50 years
Mismatch
repair genes
Unknown Increased Colon, uterine, others
RAD51C,
RAD51D
Unknown Increased: consider RRSO at
45-50 years
STK11 Increased Increased risk of non-
epithelian ovarian cancer
44. BRCA PATHOGENIC/LIKELY PATHOGENIC MANAGEMENT
Prevention
Breast screening
-Clinical breast exam: 25 years, 6-12 monthly
- Age 25 – 29 years annual breast MRI
- Age 30-75 years: Annual mammogram with
consideration of tomosynthesis and breast MRI
Discuss Risk Reducing Mastectomy (RRM)
Discuss Risk Reducing Salpingo-
Oophorectomy (RRSO)
Drugs: Oral contraceptives, tamoxifen
Treatment
Breast :Olaparib/talazoparib
Ovary:
Treatment: 3rd line Olaparib
Treatment: 4th line Niraparib HRD+
Maintenance: 1st line Olaparib
Men
Risk to
relatives
- Clinical
breast
examination from 35
years
- 45 years: Prostate
screening (BRCA2)
Recommend
genetic
counseling
and ttesting
for at risk
relatives
46. Ca endometrium
Relative Risk
Relative Risks are calculated by dividing
the likelihood of developing cancer for
people exposed to a particular risk
factor, by the likelihood of developing
cancer for people not exposed to this
risk factor.
49. Lynch syndrome : cancer risks
General Population Risk Lynch syndrome
Colorectal 5.5% 40-80%
Uterine 2.7% 25-60%
Stomach <1% 1-13%
Ovarian 1.6% 1-24%
• Most common inherited CRC
• Increased risk of CRC, endometrial cancer
Also at increased risk:
Small intestine, biliary system (pancreas, liver, bile duct), brain, skin, and urinary tract
(kidneys, ureters, bladder, urethra)
50. Elevated HNPCC Risk: Amsterdam Criteria II
3 – 2 – 1 rule:
• Three or more relatives with histologically verified Lynch syndrome
associated cancers, one of whom is a first degree relative of the other two
and FAP has been excluded
• Lynch syndrome associated cancers involving at least two generations
• One or more diagnosed before the age of 50 years
• Sensitivity: 22%, specificity: 98%
• Lynch syndrome associated cancers: CRC, Ca endometrium, small bowel,
transitional cell carcinoma of ureter or renal pelvis
54. Li-Fraumeni syndrome
Combination of an individual diagnosed age <
45 years with a sarcoma
CLASSIC LI-FRAUMENI SYNDROME (LFS)
CRITERIA
A first degree relative diagnosed age < 45 years
with cancer
Additional first or second degree relative in the
same lineage with cancer diagnosed < 45 years
ir a sarcoma at any age
CHOMPRET CRITERIA
Individual with LFS spectrum tumour AND
1st/2nd degree relative with aforementioned
tumours before age 56 years
Individual with multiple tumours two of which
belong to LFS spectrum with initial tumour
occurring before 46 years
Individual with adrenocortical carcinoma or
choroid plexus carcinoma or RMS of embryonal
anaplastic type at any age, regardless of family
history
OR
OR
55. MANAGEMENT
Prevention
Breast screening
-Clinical breast exam: 20 years, 6-12
monthly
- Age 20 – 29 years annual breast MRI
- Age 30-75 years: Annual mammogram
with consideration of tomosynthesis and
breast MRI
Discuss Risk Reducing Mastectomy (RRM)
Other cancer risk
6-12 months: comprehensive
physical and neurological
assessment
Colonoscopy, UGIE: every 2-5
years starting at 25 years or 5
years before earliest known
colon cancer
56. Cowden syndrome
• Occur due to germline mutations
of PTEN gene
• High risk of breast and
endometrial cancer
Management:
• Option of RRM
• Endometrial cancer screening
57. Issues in Cancer Genetic Screening
1. Psychological Issues
2. Presymptomatic Screening in
Children
- screen only when benefit is
absolute
58. Issues in Cancer Genetic Screening
3. Confidentiality
4. Insurance and Discrimination Issues
5. Reproductive Issues
63. Lifetime risk of cancer
• Lifetime risk of cancer is an
estimate of a person’s chances of
being diagnosed with cancer at
some point during their lifetime.
• Usually expressed as the odds of
developing cancer (1 in X), as a
percentage, or as the number of
people diagnosed per 100 people
• Methods: (1) Cumulative risk, (2)
Current probability, (3) Adjusted
for multiple primaries