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.
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.
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.
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.
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
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.
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.
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
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.
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.
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.
As more women are concerned with their hereditary breast & Gyneacological cancer risk, the threshold for genetic testing is falling .
Patients and family members should be supported & given information about chemoprevention, surveillance & risk-reducing surgery .
The true challenge lies in translation of this knowledge into clinical practice, such that a definitive improvement in longevity and quality of life for patients and their families is realized.
Brca2 mutation and their influence to cancergalinayakubova
brca2 mutation and their influence to cancer . and also the types of cancers caused by them. also mentions management and risk factors and classic pedigree of brca2 mutation. also mentions statistics of brca1 and brca2
Prophylaxis and early diagnosis of breast cancerINVICTA GENETICS
The BRCA 1/2 Test allows performing the analysis of the entire sequence coding both genes in order to detect the mutations which influence the increased risk of developing a cancer disease. One of the most important indications for performing the test is the positive family history.
The Newer Concepts In Endometriosis Management : Dr Sharda JainLifecare Centre
The Newer Concepts In
Endometriosis Management
ENDOMETRIOSIS IS ENIGMA
DIAGNOSTIC DELEMMA
DEBILITATING DISEASE QOL
PROGRESSIVE DISEASE
RECURRENCE IS BIG PROBLEM
NO FINAL VERDICT ON CAUSE
NO PERMANENT CURE
The exact prevalence of endometriosis is unknown, but estimates 10% in the general female population in India but up to 50% in infertile women
The Newer Concepts forReduced Surgery to preserve fertility in Endometrios...Lifecare Centre
The Newer Concepts forReduced Surgery to preserve fertility in Endometriosis
ENDOMETRIOSIS IS ENIGMA
DIAGNOSTIC DILEMMA
DEBILITATING DISEASE QOL
PROGRESSIVE DISEASE
RECURRENCE IS BIG PROBLEM
NO FINAL VERDICT ON CAUSE
NO PERMANENT CURE
The exact prevalence of endometriosis is unknown, but estimates 10% in the general female population in India but up to 50% in infertile women
Anemia Free India Gynaecologist to focuss on *12gm Haemoglobin at Delivery I...Lifecare Centre
Important Highlights
Prophylactic Iron and Folic Acid Supplementation in all six target age groups.
Intensified year-round Behaviour Change Communication (BCC) Campaign for:(a) improving compliance to IFA and deworming, (b) enhancing appropriate infant and young child feeding practices, (c) encouraging increase in intake of iron-rich food through diet and/or fortified foods (d) ensuring delayed cord clamping .
Testing and treatment of anaemia, using digital methods and point of care treatment, with special focus on pregnant women and school-going adolescents.
Addressing non-nutritional causes of anaemia
in endemic pockets with special focus on malaria, hemoglobinopathies and fluorosis
Strategies for Improving Success Rates in ART PARTLifecare Centre
Strategies for Improving Success Rates in ART
Part - 2
Strategies for Improving Success Rates in ART
Tailoring Controlled Ovarian Stimulation
Strategies for Luteal Phase in ART cycles
Endometrial Receptivity Array
How to optimize success rates in ART? : Dr Sharda JainLifecare Centre
How to optimize success rates in ART? : Dr Sharda Jain
How to improve success rates in ART?
The big debate कार्य में आनंद
Evolution of In-vitro Fertilization (IVF)
Factors Influencing IVF Success Ist Part
Strategies for Improving Success Rates in ART Second Part
Innovations & Breakthroughs in IVF Part Three
OPEN DEBATE
SOCIALEGG FREEZING : Dr Poorva Bhargav and Dr Sharda JainLifecare Centre
SOCIALEGG FREEZING : Dr Poorva Bhargav and Dr Sharda Jain
Introduction
Social egg freezing (oocyte cryopreservation for non-medical reasons) has evolved as a proactive option for women looking to extend their reproductive possibilities past their peak childbearing years
It is the process of saving or protecting eggs, or reproductive tissues so that a person can use them to have biological children in future
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
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
These lecture slides, by Dr Sidra Arshad, offer a quick overview of 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 leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
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. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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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.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
BRCA – Importance in Hereditary Breast & Ovarian Cancer
1. BRCA – Importance in Hereditary
Breast & Ovarian Cancer
Presented in DGF CME on
24th December 2018
Dr. Sunil Tadepalli
Director, Centogene India
December 24th, 2018
2. DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
3. Breast Cancer is the number one
cancer among Indian women* & it is on rise.
4. Breast Cancer is the number one cancer among Indian women* …he most
investment for prevention, detection, treatment and palliative care
Source: Dr. Ali Shamseddine
*Malvia et al. Asia-Pacific Journal of
Clinical Oncology 2017; 13: 289-295
Estimate that by 2020, India could
have as many as 1.8 Million cases of
Breast Cancer
5. 5-10% OF PATIENTS WITH Breast And / or
ovarian cancer have a hereditary form
6. All breast / ovarian cancer
Hereditary breast / ovarian cancer
BRCA/2 associated cancer
7. For any individual carring a mutation in
BRCA 1 or BRCA 2, the lifetime risk of developing
breast / ovarian cancer increases
from 12% to 50-85%
8. www.centogene.com
BRCA1 and BRCA2 Associated Cancers & Penetrance
Cancer Type General
Population Risk
Mutation Risk
BRCA1 BRCA2
Breast
12% (in India 5-
8%)
50%-80% 40%-70%
Second primary
breast
3.5% within 5
years
Up to 11%
27% within 5
years
12% within 5
years
40%-50% at 20
years
Ovarian 1%-2% 24%-40% 11%-18%
Male breast 0.1% 1%-2% 5%-10%
Prostate 15%-18% <30% <39%
Pancreatic 0.5% 1%-3% 2%-7%
9. FEW FACTS
In the general population ,approximately 12% of
women will develop breast cancer in their lifetime. In
comparison , 55- 65% of women carrying a BRCA2
mutation will develop breast by age 70.
10. By detecting cancer early , patients can have timely
access to preventative measures & proactive
treatment – leading to a better prognosis overall.
Where cancer has been diagnosed, somatic testing of
the BRCA1/2 genes is still highly beneficial & can
significantly improves the prognosis & quality of life
cancer – affected patients.
FEW FACTS
12. HBOC Testing Criteria - Test affected individual if available first
individual if available first
Meets any one or more
of these criteria
Family with a known deleterious BRCA 1 / 2
mutation
Breast cancer
≤45 y
Breast Cancer
≤50 y
Additional breast primary
≥1 close blood relative with breast cancer at any age
≥1 close blood relative with pancreatic cancer
≥1 close blood relative with prostate cancer – Gleason ≥7
Unknown or limited family history
Breast Cancer
≤60 y
Triple negative breast cancer
Breast cancer at any age ≥1 close blood relative with breast cancer ≤50 y
≥2 close blood relatives with breast cancer at any age
≥1 close blood relative with invasive ovarian cancer
≥2 close blood relatives with pancreatic or prostate cancer
Close male relative with breast cancer
Serous epithelial ovarian cancer
14. TESTING STRATEGY FOR HBOC
Full gene
sequencing of
BRCA 1 & 2
Mutation
detected –
provide
genetic
counselin
g
No
mutation
detected
Deletion
Duplication Test
for BRCA 1 & 2
Mutation
detected
– provide
genetic
counselin
g
No
mutation
detected
CentoBreast
Panel
Mutation
detected –
provide
genetic
counselin
g
No
mutation
detected
Whole
Genome
Sequencing
ATM, BARD1, BRCA1,
BRCA2, BRIP1, CDH1,
NBN, PALB2, PTEN,
RAD51C, STK11, TP53
15. Potential Benefits:
Clinical intervention may improve
outcome
Family members at risk can be
identified
Positive health behavior can be
reinforced
Reduction of uncertainty
Risks / Benefits / Limitations of genetic testing -
Positive test result
Potential Risks:
Adverse psychological reaction
Family issues/distress
Uncertainty -incomplete
penetrance
Insurance/job discrimination
Confidentiality issues
Intervention carries risk
16. Variant categorization
• Known pathogenic (condition relevant and
incidental)
• Likely pathogenic
• VUS (variants of undetermined significance)
• Likely benign
• Known benign
ONLY ONE OR
TWO GOOD
LABS CAN DO IT
eg CENTOGENE
17. Positive
Deleterious mutation identified
Negative
Interpretation differs if a mutation has previously been
identified in the family
Mutation known – true negative
Mutation unknown – uninformative
Variant of unknown significance
Significance will depend on how variant tracks through family -
i.e. is variant present in people with disease?
Can use software to predict functional significance
Check with lab to see if reported previously
Results from Genetic Testing
18. Detection rate of new BRCA1/BRCA2 classified and
curated genetic variants (CentoMD®)
Newly detected unique variants vs. previously published genetic variants
(includes pathogenic, likely pathogenic, uncertain, risk factor, modifiers)
BRCA1 BRCA2
19. Patient cohort
20%
vs.
70%
In our total cohort of 1,221 patients in 2016 we identified
240 with pathogenic mutations (20%),
119 with variant of uncertain clinical significance (10%) and
862 no mutation (70%).
26%
vs.
57%
High risk group of young index patients (< 40 yrs) with breast
cancer and positive family history of cancer.
114 carried pathogenic mutation (26%),
24 variant of uncertain significance (17%) and
82 no mutation (57%).
Relevant Clinical Information
• Age of onset
• Family history
• Type of cancer
Detection rate 26%
• 26%by Schneegans et al,
Fam Cancer. 11(2): 181–188.
• 27% by Kast et al, Cancer
Res 69(24):731S-S
20. Anticipation
Statistically significant decreased age of onset
7.9 Years From Mother To Daughter for BRCA1 & BRCA2
mutations
[Litton JK et al. Cancer 2012: 118: 321-5]
6.8 years for BRCA1 & 12.1 years for BRCA2-mutation positive
individuals & earlier age of onset was associated with progressive
telomere shortening
[Martinez-Delgado et al. PLoS Genetics 2011: 7: e10021182]
21. Bilateral risk reduction mastectomy (RRM) decreased the risk of developing breast
cancer by at least 90% in moderate- to high-risk women and in known BRCA1/2
mutation carriers.
[Hartmann LC et al. J Natl Cancer Inst 2001; 93: 1633-1637]
Option of RRM to be offered on a case-by-case basis after appropriate counseling
including risks & benefits of surgery & surgical breast reconstruction options
Risk Reduction Mastectomy (RRM)
22. Absence of early methods of early detection & poor prognosis associated with
advanced ovarian cancer warrant RRSO in women after completion of child bearing
A meta-analysis of 10 studies showed approximately 80% reduction in the risk of
ovarian or fallopian cancer following RRSO
[Rebbeck TR et al. J Natl Cancer Inst 2009; 101:80-87]
RRSO also reduces the risk of breast cancer in carriers or BRCA mutations by ~50%
[Eisen A et al. J Clin Oncol 2005; 23: 7491-7496]
Bilateral Risk Reducing
Salpingo-oophorectomy (RRSO)
23. BRCA Testing in Ovarian Cancer
NCCN advocates BRCA testing in all women with serous
epithelial ovarian cancers – 20-25% women positive even
without family history.
Respond better to chemotherapy, FDA (May 2015) has
approved Olaparib for use in BRCA positive ovarian cancers
who relapse.
25. HEREDITARY BREAST & OVARIAN CANCER –
OTHER GENES
Gene Clinical Significance
CDH1 Women have a 39%-52% risk for lobular breast cancer
CHEK2 Two to three fold increase in breast cancer in women
PTEN
Cowden Syndrome (CS) – High risk for benign and malignant tumors of
the thyroid, breast and endometrium. Life time risk of developing breast
cancer is 25-50%, with the average age of diagnosis between 38-46 years.
Autosomal dominant inheritance.
STK11
Peutz-Jeghers Syndrome (PJS) - Association of gastrointestinal polyposis
and mucocutaneous pigmentation. 8% of women with PJS developed
breast cancer by age 40 years and 32% by age 60 years.
Autosomal dominant inheritance.
TP53
Li-Fraumeni Syndrome (LFS) - Cancer predisposition syndrome
associated with tissue sarcoma, osteosarcoma, pre-menopausal breast
cancer, brain tumors, adrenocortical carcinoma and leukemias. LFS-
related cancers often occur in childhood or young adulthood and survivors
have an increased risk for multiple primary cancers.
Autosomal dominant inheritance
26. TAKE-HOME MESSAGE
To the Clinicians, gynaecologists & public at large:
• Record detailed family and personal history in every case of breast,
ovarian, colon & endometrial cancer and offer genetic testing in
appropriate families
• Genetic testing offers the possibility of risk evaluation & management
even in the pre-symptomatic stage
• Many patients are quite aware of the possibility of familial cancers and
request testing – but misinformation is widespread
• Germline mutations can be diagnosed easily and have defined
inheritance patterns.
• Both Somatic & Germline mutations are useful in guiding management
of patients.
27. DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
28. This PPT is made for awarness among gynaecologits
& general public from
Presentation made by Dr Sunil Tadepalli on
24th December 2018
Thank you for your interest
Email: Sunil.Tadepalli@centogene.com
Mobile: +91-99100-17978
Web: www.centogene.com
Email: Shalabh.Saxena@centogene.com
Mobile: +91-95484-66660