If there is a strong family history of breast cancer or a known breast
cancer gene mutation in the family, a man might consider having genetic testing to see if he has a mutation that increases his risk for male breast cancer.
A few years ago, Jolie had her breasts and ovaries removed after she found out she had a breast -
cancer gene mutation that sharply increased her risk of cancer.
«If a child happens to have a breast
cancer gene mutation, does that mean they're at risk for breast cancer later in life, or is that contributing to the child's cancer?»
In an effort to expand the number of
cancer gene mutations that can be specifically targeted with personalized therapies, researchers at University of California San Diego School of Medicine and Moores Cancer Center looked for combinations of mutated genes and drugs that together kill cancer cells.
The study showed that a number of known
cancer gene mutations, such as APC, PI3KCA, SRC and p53, exercise their effects through microRNA 135b.
There are different blood and saliva tests available for potential breast -
cancer gene mutations.
NGS technology enables testing for multiple
cancer gene mutations in multiple samples simultaneously.
Not exact matches
At last year's Brainstorm Health conference in San Diego, Bergh found himself sitting at dinner with Othman Laraki, the cofounder and CEO of Color Genomics — a company that extracts the DNA from a customer's submitted saliva sample and then looks for a set number of
gene mutations known to be associated with increased risk for developing certain hereditary
cancers or heart conditions (depending on the test).
She chose that step because she had been tested and knew she possessed those
gene mutations, which put her risk of developing breast
cancer at greater than 80 %.
The other, a former White House aide to President Obama, tested positive for the BRCA2
gene mutation that has led to breast
cancer in her family for generations — and is taking aggressive steps to avoid the same fate.
If you have a strong family history of breast
cancer or other
cancers, your doctor may recommend a blood test to help identify specific
mutations in BRCA or other
genes that are being passed through your family.
Doctors estimate that about 5 to 10 percent of breast
cancers are linked to
gene mutations passed through generations of a family.
About 41,000 women and 300 men are diagnosed with breast
cancer every year, and in five per cent of cases the disease is caused by a hereditary
mutation in the BRCA1 and BRCA2 breast
cancer genes.
The breast -
cancer mutation 185delAG entered the
gene pool of Jews some 2,500 years ago, around the time they were exiled to Babylon.
CCG will be «squeezing» more clinically meaningful information out of
cancer genomics, to understand at the molecular level how
genes and
mutations drive
cancer and determine response to treatment.
Jaenisch says that the method that identified the single point
mutation in SNCA's enhancer could be used to pinpoint additional pathogenic
genes for sporadic PD and sift through the GWAS hits for other diseases, including Alzheimer's disease,
cancer, diabetes, and multiple sclerosis.
A less - frequent BRCA1
mutation, called 5382insC, was identified next, followed by 6174delT on a second
gene, BRCA2, making for a trio of characteristically Jewish breast -
cancer mutations.
Bernard Friedenson, associate professor of biochemistry and molecular genetics at UIC, looked at the DNA sequences of breast
cancers from 21 different women and found
mutations in
genes involved in immunity in every one of them.
Mutations in these
genes have been associated with one of the deadliest types of ovarian
cancer, called clear cell carcinoma.
Mutations in the
genes that defend the body against
cancer - related viruses and other infections may play a larger role in breast
cancer than previously thought, according to a study at the University of Illinois at Chicago.
For example, HPV - inactive tumors were 17 times more likely to contain disrupting TP53
gene mutations than HPV - active cervical
cancers, rendering unnecessary the expression of the HPV E6 oncogene.
He identified
gene mutations in breast
cancer cells that affect their ability to recognize viruses, including some
mutations that would be expected to significantly increase the cells» vulnerability to viruses implicated in breast
cancer.
«
Gene mutation findings may lead to treatment for liver
cancer.»
The researchers identified a
mutation in a
gene in one patient that could increase the risk of colon
cancer as an adult.
This unexpected result suggests that
mutations in NPM1 behave as gatekeepers for this
cancer; once a
mutation in this
gene occurs in a cell with particular previously accumulated pre-leukaemic
mutations, the disease progresses rapidly to become leukemia.
«When most people think about
cancer genetics, they think about single key mutations that foster tumor formation — very specific things like the BRCA genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores Cancer Center and lead author of the paper published February 15 in Nature Communica
cancer genetics, they think about single key
mutations that foster tumor formation — very specific things like the BRCA
genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores
Cancer Center and lead author of the paper published February 15 in Nature Communica
Cancer Center and lead author of the paper published February 15 in Nature Communications.
Since the Lung
Cancer Mutation Consortium trial began in 2009, many patients are now tested for mutated or altered
genes before treatment.
Working with colleagues at St. Vincent's Hospital in Sydney, Martin identified two individuals who had the characteristics of hereditary nonpolyposis colorectal
cancer, which is usually caused by a
mutation that inactivates one of a person's two copies of the tumor suppressor
gene MLH1, but who showed no signs of
mutation.
If the silencing occurred in a
gene responsible for suppressing tumor formation, the result would appear the same as genetic
mutations that predispose people to
cancer.
Inherited
mutations of the tumour suppressor
gene CDKN2A are the strongest known risk factors for familial melanoma and
mutations in this
gene also increase the risk of other
cancers.
PARP inhibitors have shown efficacy for a small group of patients with breast
cancer with inherited
mutations in BRCA
genes, but have failed in the more aggressive triple - negative disease.
Much like the association between BRCA
gene mutation and the risk for breast
cancer in women changed the approach to treatment / prevention, the identification of the Kallikrein 6
gene region may change the course of prostate
cancer care through a blood test developed by the Lunenfeld - Tanenbaum Research Institute.
Only two women in the study had
cancer - driving
mutations — both in an estrogen receptor
gene called ESR1 — in their recurrent tumors not seen in the original.
Genetic tests for
mutations in the so - called breast
cancer genes, BRCA1 and BRCA2, may not reveal as much about
cancer risk as earlier reports have estimated, according to two studies published in tomorrow's New England Journal of Medicine.
Under the new recommendations, the parents would learn not only if their child's heart condition is due to a particular
gene mutation — they'd also learn whether she is at high risk of certain breast
cancers, colon
cancers, cardiomyopathies, aneurysms, and other diseases.
Out of 750
genes measured, they found that every individual's
cancer had a unique set of about 15 key genetic
mutations.
As cells divide and grow,
mutations may crop up in
cancer - associated
genes.
About a quarter of patients had
mutations in the DNA repair
genes including BRCA1 or BRCA2
genes, which are known to increase the risk of breast and ovarian
cancer.
For example, changes in certain
genes could indicate that his
cancer was more likely to respond to a particular drug, while other
mutations might predict little benefit from a specific therapy.
The approach is already routine for some
cancer patients, such as women and men with breast
cancer tumors that have high levels of a protein called HER2, or lung
cancer tumors with
mutations in the EGFR
gene.
Women who have
mutations in either of two
genes, BRCA1 and BRCA2, have a dramatically increased risk of breast
cancer.
The ACMG working group limited its list to
genes that carry a high risk of disease — for example,
mutations in BRCA1 and BRCA2, which significantly raise the risk of breast and ovarian
cancer, and for which extra screening and prophylactic surgery can reduce risk.
However, resistance to therapy might go beyond
cancer mutations that usually alter the function of
genes.
Michele Carbone and colleagues, from the University of Hawaii, discovered that members of 4 families, apparently unrelated and living in different US States, shared the identical
mutation of a
gene called BAP1 that is associated with a higher incidence of mesothelioma, melanoma, renal carcinoma and other
cancers.
The researchers found a set of frequently mutated
genes in SBAs that could be helpful to clinicians when they are looking to use targeted therapies that work best in
cancers with specifics
mutations.
Many people with lung
cancer harbour
mutations in a
gene called EGFR.
By providing a woman's family history of these
cancers, including the ages they were diagnosed, the programs calculate a probability that the patient carries a harmful
mutation in BRCA1 or BRCA2 (
genes involved in controlling malignant cell growth).
Previous studies of genetic alterations in lymphoma and lung
cancer have found that certain genetic
mutations — specifically when part of a
gene breaks off and gets fused to another — can inappropriately switch on ALK, driving
cancer cells to grow and divide.
Labs, they suggested, should «seek and report»
mutations in dozens of
genes, many of them linked to
cancer syndromes.
«Women who carry a
mutation in BRCA
genes have an increased risk of developing breast and ovarian
cancer,» Kristy A. Brown, Ph.D., study principal investigator, said.