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Printable Handouts
Navigable Slide Index
- Introduction
- Risks related to breast cancer
- Breast cancer gene inheritance
- DNA patenting and cancer gene discovery timeline
- BRCA1/BRCA2-associated cancers: lifetime risk
- Hormone receptor status and BRCA-assoc. cancer
- BRCA1 mutations in breast cancer types
- BRCA1 and BRCA2
- BRCA1/BRCA2 inherited genomic rearrangements
- Hereditary breast and ovarian cancer
- Large genomic rearrangements and BRCA
- NCCN guidelines (1)
- Clinical management of mutation-negative patients
- Li-Fraumeni Syndrome (LFS)
- TP53 germline mutations breast cancer phenotype
- Cowden Syndrome
- Cowden syndrome pedigree and criteria
- Genes assoc. with hereditary cancer syndromes
- Contralateral breast and ovarian cancer risk
- Contralateral risk in absence of major predispos.
- NCCN guidelines (2)
- Clinical management of mutation-positive patient
- Angelina Jolie’s double mastectomy
- Absolute risks for BRCA1 mutation carriers
- Contrast-enhanced breast MRI
- Early stage breast cancer detection: MRI
- Oophorectomy and reduction of risk/mortality
- HRT: no breast cancer risk reduction compromise
- Options for BRCA mutation patients
- PARP inhibition, tumor-selective synthetic lethality
- Fanconi pathway and genomic stability genes
- Explaining familial aggregation of breast cancer
- Ataxia Telangiectasia carriers
- Cancer risk in families with PALB2 mutations
- RAD51C germline mutations in high-risk families
- Technological advances reduce sequencing costs
- How much breast/ovarian cancer is hereditary?
- Germ-line loss-of-function mutations prevalence
- Commercial multigene panels available in U.S (1)
- Commercial multigene panels available in U.S (2)
- Human genetic variation
- Case study pedigree
- Case study test report
- Genetic heterogeneity & overlapping phenotypes
- Risk alleles continuum
- Multiplex genetic testing
- Multigene panel testing levels of information
- ENIGMA: rare gene/variants working group
- Hereditary cancer risk assessment, management
- City of Hope clinical cancer genetics team
Topics Covered
- Risks related to breast cancer
- Breast cancer gene inheritance
- BRCA1 mutations in breast cancer types
- BRCA1 and BRCA2
- Hereditary breast and ovarian cancer
- Li-Fraumeni Syndrome (LFS)
- Cowden Syndrome
- Early stage breast cancer detection: MRI
- Oophorectomy and reduction of risk/mortality
- Ataxia Telangiectasia carriers
- Human genetic variation
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Weitzel, J. (2015, October 29). Genetics of breast and ovarian cancer [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 11, 2024, from https://doi.org/10.69645/XWMK3517.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Jeffrey Weitzel has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Other Talks in the Series: Cancer Genetics
Transcript
Please wait while the transcript is being prepared...
0:00
Hello,
I'm Doctor Jeffrey Weitzel.
I'm a Medical Oncologist
and a Clinical Geneticist
at the City of Hope
Cancer Center
in Duarte, California.
I'm going to speak today
about the Genetics of Breast
and Ovarian Cancer.
I have a long relationship
with the topic
because I was first involved
in gynecologic oncology
at Tufts University in Boston
and later in clinical genetics
and subsequently
in the translational science
of bringing
genetics to oncology.
So first, when I talk about
genetics of breast
and ovarian cancer,
we need to keep in mind
the concept
of all the different risks
that are related
to breast cancer.
0:39
There are many factors
associated with breast cancer,
some are well established.
This puzzle
helps us to understand
all the different factors
that might be involved.
Many are classic epidemiologic
risk factors.
But of course,
I'm interested in genetics,
and so we'll talk
more about genetics
and its influence in cancer.
This goes back some time
in that there's a lot of
very important perspectives
of cancer and genetics
that are often overlooked,
but are emphasized
in the context of cancerous
counseling.
1:11
1993, just really
at the height of the hunt
for the breast cancer gene.
I'll talk about
in the timeline in a moment.
BRCA1 gene was first localized
several years earlier,
so this really talks about
the human factor,
which is the concept
of here's a mother
who suffered breast cancer,
here's a daughter
who understands she's at risk
and has chosen
to have a mastectomy,
and yet there is still
transgenerational concern
about this
individual's daughter.
So I think
is a very evocative perspective
and it really colors
our entirety of how we look at
cancer and genetics.
For many of the patients
we take care of,
from their perspective,
it's not a matter of if,
but when they will get cancer.
Yet genetics can help us
to determine
when that's really the case.