Friday, 17 June 2022

Is Breast Cancer a Hereditary Condition?

Yes, some breast cancers are caused by inheriting genes with specific mutations. Hereditary breast cancer, on the other hand, accounts for just 5 to 10% of all breast cancer diagnoses. A family may have one of the following inherited gene mutations or genetic disorders, which raise cancer risk:

  • BRCA1 or BRCA2 mutations These gene mutations are linked to an increased risk of breast and ovarian cancer.
  • Mutations in the TP53 gene cause Li-Fraumeni Syndrome.
  • Mutations in the PTEN gene cause Cowden Syndrome.
  • ATM, CHEK2, PALB2. These gene mutations are linked to a slightly higher risk of breast cancer.

1) an increased incidence of these cancers among individuals with a family history of these cancers; 2) multiple family members affected with these and other cancers, and 3) a pattern of cancers compatible with autosomal dominant inheritance are all factors that point to a genetic contribution to both breast cancer and gynecologic cancer. An autosomal dominant cancer propensity gene can be inherited and transmitted by both males and females.

Additional variables, including as reproductive history, oral contraceptive and hormone replacement usage, early-life radiation exposure, alcohol use, and physical activity, might increase an individual's chance of developing cancer when combined with family history.

Genetic testing for hereditary cancer risk and risk-management measures are influenced by psychosocial variables. The use of genetic testing differs greatly between investigations. Cancer-specific discomfort and the perceived risk of acquiring breast or ovarian cancer are two psychological variables linked to testing uptake. In the long run, studies have demonstrated that both carriers and noncarriers experience minimal levels of distress after genetic testing. RRM and RRSO use vary between studies and may be impacted by factors such as cancer history, age, family history, health care professional recommendations, and preoperative genetic information and counseling. Gender, age, and the degree of relatedness are some of the factors that influence how patients communicate with their family members about a hereditary risk of breast and gynecologic cancer. Research is continuing to understand and manage psychological and behavioral concerns in high-risk families.

Thursday, 26 May 2022

Can we control vector-borne diseases using genetically modified mosquitoes?


In the United States, preliminary results from an open-air trial with genetically altered mosquitoes aimed at suppressing a natural population of virus-carrying mosquitoes have shown encouraging results.

Oxitec, a biotechnology company located in the United Kingdom, is conducting an experiment to lower the number of wild Aedes aegypti mosquitos, which are a vector for diseases including chikungunya, dengue, zika, and yellow fever. The scientists created a gene that causes the female offspring to die.

The outcomes, which came after a decade of battling for public acceptability and governmental permits, are insufficient. Larger investigations are required to determine whether the aim can be met. Their findings, which have yet to be published, were revealed on April 6 during a webinar.

The experiment began in the Florida Keys in April 2021, but not without opposition from the locals. Their concerns ranged from changed mosquitos causing harm to humans to the impact on mosquito-eating wildlife and other unexpected outcomes such as the introduction of a lethal virus. The mosquitos had already been tested in the field in Brazil, Panama, the Cayman Islands, and Malaysia, but no similar trials had been carried out in the United States.

All female mosquitoes that fluoresced under a certain light, indicating that they had received the fatal gene, perished before reaching maturity, indicating that their findings were promising. The scientists discovered that the fatal gene remained in the natural population for two to three months, or around three generations of mosquito progeny, before vanishing. "Even after multiple generations, no mosquitos harboring the fatal gene were identified beyond 400 meters from the release locations."

It is not a new concept to genetically edit insects to limit their number in order to prevent disease transmission. Scientists are now seeking to create ticks to avoid infections, which began a decade ago.

Friday, 6 May 2022

What is the impact of Genetic Variation on Human Microbiome?


Cornell scientists are investigating how human genetics influences gut microbiome functioning and raising awareness of the importance of human genetics in influencing the microbiome.

The billions of bacteria that make up a person's gut microbiome have a significant influence on metabolic function, illness, and general health. What's been less obvious is how and to what degree the gut microbiota is formed by its human host's genetics.

Finding the gene responsible for an illness or trait that is produced by a single genetic mutation may be a pretty simple task. However, a far more complicated process is when a group of genes combines to cause illness or other phenotypic manifestation. There are many sequential changes in the human genome from person to person and even between paired chromosomes of the same person.

Single nucleotide polymorphism occurs when a variation is caused by a single nucleotide substitution (SNP). Brito's team was able to find SNPs that were linked to microbiome-related features, diseases, and malignancies using a novel computational and modeling technique. In other words, they were able to demonstrate that the human genome has direct impacts.

The current study was unique in that it made advantage of this data format. It focused on the function of the gut microbiome rather than the genetic makeup of each species in the agglomeration of organisms that make up the microbiome; it looked at large groups of human genes and their impact on microbiome functions rather than single genes, and it used a novel strategy to model the distribution of functions and species within the human gut.

Previous models did not suit the properties of metagenomic sequencing data sets well. To account for these traits, Wells proposed utilizing the Tweedie distribution, a sort of probability modeling.

Is Breast Cancer a Hereditary Condition?

Yes, some breast cancers are caused by inheriting genes with specific mutations. Hereditary breast cancer, on the other hand, accounts for j...