Publications by authors named "Vishakha Tripathi"
Article Synopsis
- Carriers of BRCA1/2 pathogenic variants were studied to determine their risk of developing cancers during childhood, adolescence, and young adulthood (CAYA).
- Analysis of data from over 47,000 individuals revealed that while young women with BRCA1/2 mutations had a significantly increased risk of breast cancer in their 20s, no increased risk was found for other types of CAYA cancers.
- The study concluded that there's little evidence to support routine genetic testing for children of BRCA1/2 carriers or for young cancer patients, as the overall cancer risk appears low aside from breast cancer in young women.
Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.
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- The study checked how well the BOADICEA model predicts breast cancer risk for people who carry certain gene changes (called pathogenic variants).
- They looked at information from a group of over 1,600 participants and found that the model worked really well, especially when considering family history and other risk factors.
- The results can help doctors and patients make better choices about cancer management, and the model can be accessed for free on the CanRisk website.
Article Synopsis
- The study examines the relationship between height, BMI, and weight gain with breast cancer risk in women who carry BRCA1 or BRCA2 gene variants, unlike previous research that focused on the general population.
- An analysis of 8,091 BRCA1/2 variant carriers found that taller height increases the risk of premenopausal breast cancer for BRCA2 carriers, while higher BMI in young adulthood is linked to lower risk for both BRCA1 and BRCA2 carriers.
- The findings suggest that higher BMI and weight gain are related to increased postmenopausal breast cancer risk for BRCA1 carriers, indicating that body measurements impact breast cancer risk similarly in these variant carriers as
Article Synopsis
- A study evaluated the PREDICT v 2.2 tool for predicting the prognosis of breast cancer in patients with BRCA1 and BRCA2 gene variants, using data from over 5,400 carriers across two major cancer research consortia.
- The PREDICT model showed reasonable effectiveness in distinguishing high-mortality groups for estrogen receptor (ER)-negative breast cancer in BRCA1 carriers, while for BRCA2 carriers, its accuracy was lower and fluctuated based on tumor characteristics.
- The findings suggest that while PREDICT can aid in management of breast cancer patients, adjustments for BRCA2 status and tumor features are necessary to improve prognosis estimates, particularly for ER-positive cases.
Background: Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO).
Methods: Our study recruited 875 female -heterozygotes at 13 UK centres and via an online media campaign, with 767 undergoing at least one 4-monthly surveillance test with the Risk of Ovarian Cancer Algorithm (ROCA) test. Surveillance performance was calculated with modelling of occult cancers detected at RRSO.
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.
View Article and Find Full Text PDFThe Genetics service at Guy's hospital has dedicated in-house psychology provision aimed at supporting patients embarking on genetic testing through to coping with the aftermath of genetic diagnoses. This provision offers assessment and intervention within a brief 6-session therapy model and provides a range of therapeutic approaches. Patient satisfaction with the service is high and referral rates have greatly increased over the recent years.
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- Researchers studied the impact of new polygenic risk scores (PRS) for breast and prostate cancer on male carriers of BRCA1 and BRCA2 gene mutations, analyzing data from 1,801 individuals across these two genes.
- The breast cancer PRS showed the strongest link to risk factors for BRCA1 and BRCA2 carriers, with specific odds ratios indicating increased risk associated with certain risk score variations.
- The findings highlight the need for further research to tailor cancer risk assessments for male BRCA mutation carriers, which could improve their clinical management and outcomes.
A BRCA2 prostate cancer cluster region (PCCR) was recently proposed (c.7914 to 3') wherein pathogenic variants (PVs) are associated with higher prostate cancer (PCa) risk than PVs elsewhere in the BRCA2 gene. Using a prospective cohort study of 447 male BRCA2 PV carriers recruited in the UK and Ireland from 1998 to 2016, we estimated standardised incidence ratios (SIRs) compared with population incidences and assessed variation in risk by PV location.
View Article and Find Full Text PDFBackground: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.
Objective: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status.