Registration for a live webinar on 'Neuroleptic malignant syndrome' is now open.
See webinar detailsWe noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
Printable Handouts
Navigable Slide Index
- Introduction
- Disclosures
- Learning Objectives
- Sporadic (acquired) mutations are common
- Sporadic cancer: Knudsen’s two hit hypothesis
- Hereditary cancer predisposition
- Importance of familial cancer assessment
- Typical referrals to a cancer genetics clinic
- Germline (inherited) cancer predisposition
- Pitfalls when assessing pedigrees (1)
- Pitfalls when assessing pedigrees (2)
- Confirming a cancer diagnosis
- Ethnicity
- An example of mutation analysis
- Diagnostic clues in breast cancer
- Diagnostic clues in ovarian cancer
- Breast cancer identification
- “Easy-looking” families can be the hardest
- Early-onset ovarian cancer (1)
- Early-onset ovarian cancer (2)
- Using risk in cancer genetics (1)
- Using risk in cancer genetics (2)
- Using risk in cancer genetics: methods
- Using risk in cancer genetics: tools
- Risk in multi-gene panels: breast cancer
- GWAS in cancer genetics (1)
- GWAS in cancer genetics (2)
- A “typical” BRCA1/2 family
- Lifetime cancer risks: penetrance
- Lifetime cancer risks (1)
- Lifetime cancer risks (2)
- BRCA1 genotype-phenotype (1)
- BRCA2 genotype-phenotype (2)
- Asking the right types of question: case 1 (1)
- Asking the right types of question
- Affected vs. non-affected females
- Age considerations
- Asking the right types of question: case 2 (1)
- Asking the right types of question: case 2 (2)
- Features of HBOCS families
- Male:male transmission
- Deciding who to offer testing to
- Risk assessment
- Lifetime breast cancer (% risk from age 40)
- Current guidelines for BRCA1/BRCA2 testing
- Scenario (continued)
- Implications of the test result?
- Implications of a positive BRCA1/2 test (1)
- Implications of a positive BRCA1/2 test (2)
- Implications of a positive BRCA1/2 test (1)
- Implications of a positive BRCA1/2 test (2)
- Ovarian cancer screening: UKFOCCS
- Options to reduce risks in HBOC
- Oophorectomy +/- hysterectomy
- Current hereditary breast cancer panels
- Colon cancer: an overview
- Familial adenomatous polyposis
- Colorectal cancer pedigree: case 1
- Colorectal cancer pedigree: case 2
- Non-malignant features of FAP
- Extracolonic tumors in FAP
- MAP: MUTYH-associated polyposis
- Lynch syndrome
- Lynch syndrome (HNPCC)
- Cumulative lifetime risk of CRC in MSH2
- Other cancers in Lynch syndrome
- Microsatellite instability (MSI)
- IHC for MSH2 in colorectal cancer
- Lynch syndrome screening (1)
- Lynch syndrome screening (2)
- Therapeutic decision making
- Testing for germline mutations
- Comparative status for different cancers
- New developments on the horizon
- Further reading
Topics Covered
- Principles of cancer genetics
- Family history assessing including pedigrees
- Testing for cancer predisposition
- Evaluating risk in cancer genetics
- Common inherited cancers including breast, ovarian, and colorectal
- Implication of BRCA1/2 in ovary and breast cancers
- Colon cancer and Lynch syndrome
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Tischkowitz, M. (2020, May 31). A primer on familial cancer genetics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 13, 2024, from https://doi.org/10.69645/MOEF9885.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Marc Tischkowitz has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Other Talks in the Series: Introduction to Human Genetics and Genomics
Transcript
Please wait while the transcript is being prepared...
0:00
Hello, my name is Marc Tischkowitz.
I am a Reader in Medical Genetics
at the University of Cambridge.
And this lecture is an introduction
to cancer genetics.
0:12
I have no conflicts of
interest to disclose.
0:17
Learning objectives: so the topics we're
gonna cover are an introduction to
the principles of cancer genetics.
We're going to examine
how to make a timely and
accurate initial family
history assessment.
We're going to describe
how to confirm cancers and
use histology to guide testing for
hereditary cancer predisposition.
We're gonna look at how to become
confident in using communicating risk in
cancer genetics.
And we're gonna cover some of the common
inherited cancers such as breast,
0:44
ovarian, and colorectal.
So to get going,
we are gonna talk a bit about sporadic
cancers versus inherited cancers.
So this slide shows a copy
of a DNA molecule and
how it can become mutated.
0:60
The original idea of hereditary cancer
predisposition was developed by
Alfred Knudson.
His theory was called
a two-hit hypothesis.
And his idea was that you
have cells divide and
divide over a lifetime and
you develop one mutation.
And then you develop a second
mutation over a long period of time.
So this could be many decades.
And eventually you develop a cancer,
once you've got these two mutations.
And this shows the cancer developing.
1:28
Next slide covers hereditary
cancer predisposition.
And here you have the egg and the sperm
and one or other has a gene mutation.
They come together.
In this situation,
the individual is already born with one
copy mutated in every cell in the body.
As this is an inherited mutation,
the second mutation occurs.
But the timeframe for
this can be much shorter,
because there's already one mutation
in all the cells in the body.
And again, you would develop normal cells
and cancer cells in this situation.
And the cancer cells would develop
after the second mutation.
And because all the cells already
have one mutation, the timing for
this is much faster than
in a sporadic setting.
This explains why hereditary cancers
due to germline mutations typically
occur several decades earlier
than sporadic cancers.
So if you think about sporadic cancers,
two thirds of all cancers occur after
the age of 65, which is when most
of these sporadic cancers occur.
For hereditary cancers,
they tend to occur under the age of 50.
So they tend to be much earlier.