Sentences with phrase «inherited mutations in»

People who have inherited mutations in the BRCA1 and BRCA2 genes, for example, are more likely to develop breast and ovarian cancer than those whose DNA does not contain these mutations.

There is also a possible association with the Li - Fraumeni syndrome [6] in which the predisposition is predominantly to brain tumours, sarcomas and breast cancer and in which inherited mutations in the p53 gene occur [7], [8].

Approximately two - thirds of patients with congenital sideroblastic anemias have inherited mutations in a known gene.

Either dominantly inherited mutations in MFN2 encoding mitofusin 2 or GDAP1 encoding ganglioside - induced differentiation associated protein 1 may be associated with mild neuropathy.

INHERITED AND ACQUIRED Aplastic anaemia can be caused by inherited mutations in about thirty genes (known to date), several of which are involved in preserving the telomeres.

Inherited mutations in the gene encoding CXCR4 have been also reported to correlate with the disorder [45, 46].

Women who have had breast cancer or who have tested positive for inherited mutations in BRCA1 or BRCA2 genes are at increased risk.

The study involved about 2,500 women from Europe, North America and Australia who have inherited mutations in BRCA1 or BRCA2, the breast cancer susceptibility genes, and who had been diagnosed with breast cancer.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis - microcolon - intestinal hypoperistalsis syndrome.

Most cases of the disease occur in older individuals and are sporadic (non-familial), but around 15 % of patients develop symptoms early in life because of inherited mutations in a limited number of disease genes.

People with mature onset diabetes of the young (MODY1), a rare form of the disease, have inherited mutations in the HNF - 4α protein.

Because cancers involving p53 are so common, Bond and his colleagues suspected that inherited mutations in the gene, or in genes it activates, could affect cancer risk.

Since 1994, many thousands of women with breast cancer from families severely affected with the disease have been tested for inherited mutations in BRCA1 and BRCA2.

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.

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.

Previous studies have shown that inherited mutations in a gene (called TMLHE) that is required for carnitine biosynthesis are strongly associated with risk for development of autism - spectrum disorders, but the basis for that association has been unclear — until now.

For example, newborns who inherit a mutation in the Fam20C enzyme have a rare disease known as Raine syndrome.

Angelina Jolie opted to have surgery after learning she had inherited a mutation in the BRCA1 gene.

Women who inherit a mutation in BRCA1 / BRCA2 genes have an approximately 60 % increased lifetime risk for breast cancer.

XMRV prevalence in this study was higher in patients with an inherited mutation in the RNase L gene [12].

Familial medullary thyroid cancer, which is a rare type of thyroid cancer, is caused by an inherited mutation in the RET proto - oncogene.

Not exact matches

According to the National Center for Advancing Translational Sciences, «Mutations of at least six different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner.»

There are two ways in which DNA can become mutated: Mutations can be inherited, as orchestrated by God.

She carried in her cells a dangerous genetic mutation and died when she was 28, after refusing surgery for her aggressive, inherited breast cancer.

Although mutations in several proteins can lead to inherited forms of the disease, nobody knows what triggers the overwhelming number of sporadic cases.

Some prion diseases are caused by an inherited genetic mutation, while others are caused by exposure to infectious prions in food.

Because dogs appeared to inherit the disorder through a single mutation, Emmanuel Mignot and his colleagues at Stanford University Medical Center decided to sniff around in canine DNA for the flawed gene.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioIn these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioin the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

Oliver Bandmann, Professor of Movement Disorders Neurology at the University of Sheffield and Honorary Consultant Neurologist at Sheffield Teaching Hospitals NHS Foundation Trust, added: «Whilst we have been looking at Parkinson's patients who carry the LRRK2 mutation, mitochondrial defects are also present in other inherited and sporadic forms of Parkinson's, where we do not know the causes yet.

Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

They soon noticed a strange pattern: Stretches of chromosomes inherited from Neandertals also carried ancient alleles, or mutations, found in all the Africans they studied, including the Yoruba, Esan, and Mende peoples.

I was studying a handful of families in which people had inherited a recessive disease affecting platelet aggregation, looking for mutations in their genomic DNA.

A mutation in the LRRK2 gene is the single most common inherited cause of Parkinson's disease.

In addition, sometimes the receptor itself has an inherited or acquired mutation that triggers production of too many or too few hormones.

In families who carry certain inherited mutations that increase the risk for melanoma, members who do not carry the mutation also have an increased risk of melanoma, a study from Karolinska Institutet published in Genetics in Medicine reportIn families who carry certain inherited mutations that increase the risk for melanoma, members who do not carry the mutation also have an increased risk of melanoma, a study from Karolinska Institutet published in Genetics in Medicine reportin Genetics in Medicine reportin Medicine reports.

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.

As an example, in one family a child with ahrinia had inherited an SMCHD1 mutation from his father, who did not have arhinia but was later found to have symptoms suggestive of FSHD2.

The French team and a British group that discovered the mouse gene both decided to see if the mutation — which hampers the production of a protein called myosin VIIA — might, as in the mice, explain inherited deafness without other sensory loss.

Two years ago, a French group found that mutations in the human version are associated with Usher syndrome type 1B, a condition that accounts for 4 % to 10 % of all cases of inherited deafness, but is associated with blindness as well.

cblC is usually caused by two mutations — one inherited from each parent — in a gene called MMACHC.

As tiny mutations pop up in a stallion's Y chromosome, they are inherited by all of its future male progeny, allowing geneticists to trace which males came from which paternal line.

In inherited diseases, some part of this process has gone awry due to a mutation, or change in the DNA sequencIn inherited diseases, some part of this process has gone awry due to a mutation, or change in the DNA sequencin the DNA sequence.

Xinde Zheng, a research associate in the Hunter lab, was already studying the properties of cells affected by Leigh syndrome, whose inherited neurodegeneration is caused by a mutation in mitochondrial DNA that reduces ATP production.

Women with the inherited form appear to be born with mutations in the gene, whereas in those with sporadic cancer the mutations must arise later in life.

About 4 percent of familial breast cancers would include inherited mutations of GT198, which is also considered a causative gene in sporadic cases, Ko said.

In this week's issue of Nature, the researchers report that they found mutations in the superoxide dismutase genes of 13 families with an inherited form of ALIn this week's issue of Nature, the researchers report that they found mutations in the superoxide dismutase genes of 13 families with an inherited form of ALin the superoxide dismutase genes of 13 families with an inherited form of ALS.

Moreover, according to Claudio Toma, «more inherited truncated mutations mean lower intelligence quotient in an autistic person.»

Germline mutations in certain genes are known to cause inherited cancer.

Brown believes that about half of the inherited cases of ALS may be the result of mutations in the gene, and he suspects that some of the spontaneous cases may also be caused by defects in this gene.

Hair thinning in a human patient and mouse with inherited loss of function mutations in WNT10A is shown.