Showing posts with label genetic mutations. Show all posts
Showing posts with label genetic mutations. Show all posts

Tuesday, 28 October 2025

Breast Cancer: Epidemiology, Pathophysiology and Diagnostic Modalities | Chapter 9 | Medical Science: Recent Advances and Applications Vol. 12

 

Background: Breast cancer is a leading cause of cancer-related mortality worldwide. HER2-enriched and triple-negative—that differ in receptor status (ER, PR, HER2), prognosis, and treatment options. Disease risk arises from a mix of non-modifiable factors (age, genetics, reproductive history), modifiable factors (lifestyle, hormonal exposures), and strong environmental and hormonal influences. Early detection and characterisation of tumours—including imaging and biopsy to establish molecular subtype—are critical for guiding therapy.

 

Methods: This review synthesises existing literature on breast cancer epidemiology, risk factors, pathophysiology, diagnostic modalities, and treatment strategies. Sources include peer-reviewed studies on genetic mutations (e.g. BRCA1/2, TP53), hormonal and reproductive risk studies, lifestyle and environmental exposure reports, and clinical trials of therapies such as HER2-directed treatments. Diagnostic and surgical & radiation therapy approaches are compared in the context of evidence for outcomes and side effect profiles.

 

Results: Molecular subtype classification has proven essential: Genetic mutations such as BRCA1/2 significantly increase risk and are associated with more aggressive disease in some subtypes. Modifiable risk factors—such as obesity, alcohol use, late first childbirth, and hormone replacement therapy—also substantially impact incidence. Diagnostic imaging modalities (mammography, ultrasound, MRI) and biopsy allow earlier detection. Treatments combining surgery, radiation, and systemic (targeted, hormonal, or chemotherapy) therapies improve survival and reduce recurrence, especially when matched to the specific subtype. However, aggressive subtypes and late diagnosis continue to challenge outcomes.

 

Conclusions: Breast cancer is not a single disease but rather a collection of subtypes with distinct biology, risks, and treatment responses. Advances in molecular understanding and diagnostics have enabled more personalised treatment. Still, substantial work remains: reducing incidence via prevention, improving early detection in all populations, and developing more effective therapies for aggressive subtypes. Overall, integrating genetic, lifestyle, and clinical data is key to reducing the burden of breast cancer globally.

 

 

Author(s) Details

Kurupatha Menatha Jayasree
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

Alagala Anitha
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

Chantimalla Narendra Reddy
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

M. Puspha
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

R. Charith
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

S. Hema
Seven Hills College of Pharmacy, Tirupati, Andhra Pradesh, India.

 

Please see the book here :- https://doi.org/10.9734/bpi/msraa/v12/6449

Saturday, 30 July 2022

Drugs that Target Cellular Signaling Pathways for Breast Cancer Treatment | Chapter 12 | Current Practice in Medical Science Vol. 6

Numerous molecular targeting agents have been created as a result of the discovery of genetic abnormalities and the investigation of various cellular signalling pathways. These agents can be used as therapeutic targets for a variety of diseases. Many new medications have been become available recently to treat breast cancer. These medications can be used orally or intravenously. These drug delivery techniques reduce toxicity and boost effectiveness. The patients have benefited in numerous ways from these new medications and delivery systems, which have replaced the more time-consuming older ones. They have fewer adverse effects and provide patients with better benefits.

 

Author (s) Details

Nadeem Kizilbash

Department of Chemistry, Faculty of Physical Sciences, Quaid-i-Azam University, Islamabad-45320, Pakistan.

Marjan Assefi

University of North Carolina at Greensboro, Greensboro, NC 27403, USA.

Naila Mahmood

Molecular Immunology Laboratory, Atta-ur-Rehman School of Applied Biosciences, National University of Science and Technology, Islamabad, Pakistan.

Sohila Nankali

Northcentral University, San Diego, CA, USA.

A. Nanklai

Kermanshah University of Medical Sciences, Kermanshah, Iran.

Gholamreza Abdi

Department of Biotechnology, Persian Gulf Research Institute, Bushehr, 75169, Iran.

 

 

View Book :-  https://stm.bookpi.org/CPMS-V6/article/view/7686


Monday, 19 July 2021

Study on Rare Metabolic Disorder (Primary Hyperoxaluria Type 1) among Children: Perspectives to Genotyping and Outcome | Chapter 2 | Challenges in Disease and Health Research Vol. 9

 Background: Primary hyperoxaluria is an uncommon metabolic condition that is inherited as an autosomal recessive trait. It is caused by AGXT gene mutations, which are more common in underdeveloped nations due to increased consanguinity rates. The clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral centre in Oman were studied to identify the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral hospital in Oman.

Method: Between 2000 and 2013, a retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman was conducted.

There were a total of 18 children found. With a median age of 7 months, females made up 61 percent of the youngsters. In 39 percent of cases, severe renal failure was the first symptom, while 22 percent had nephrocalcinosis and/or renal calculi. Family screening identified 39% of cases. Hemodialysis was performed on 50% of the children. Organ transplantation was performed on 28% of children. The c.33-34insC variant in the AGXT gene was the most prevalent mutation discovered in Omani children.

Conclusion: PH1 is a prevalent cause of ESRD in Omani children due to consanguinity. Genetic testing is recommended to aid in family counselling and to reduce illness incidence and burden; it can also be used for premarital screening. This is the first report from Oman and the Gulf region, and it emphasises the large illness burden caused by an autosomal recessive mutation, as well as the necessity of family screening and genetic counselling.

Author (S) Details

Mohamed S. Al Riyami
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Badria Al Ghaithi
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Nadia Al Hashmi
Metabolic and Genetic UNIT, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Naifain Al Kalbani
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

View Book :- https://stm.bookpi.org/CDHR-V9/article/view/2056