Genetic Counseling and Testing for Hereditary Breast Cancer
- Conditions
- Carcinoma in situ of breast, (2) ICD-10 Condition: C50||Malignant neoplasm of breast,
- Registration Number
- CTRI/2021/04/032972
- Lead Sponsor
- Pfizer
- Brief Summary
Breast cancer remains the most prevalent cancer in women both in India and around the world. GLOBOCAN 2018 report suggests 14% of all new malignancies were breast cancers with a 5 year prevalence of around 400,000 cases. Women from low and middle income countries have been shown to have higher incidence of breast cancer and recent studies report a significant increase in morbidity and mortality related to cancers in India. It remains an unmet need in India to develop a multidisciplinary team for cancer treatment including genetic counseling and genetic diagnosis for successful management along with targeted therapies. The Kasturba Medical College and Hospital – Manipal, Manipal Academy of Higher Education, Manipal, India is a tertiary referral hospital with a dedicated cancer service called Manipal Comprehensive Cancer Care Center. There is a steady recruitment of breast cancer patients getting standard of care treatment. Though we have tumor boards in the hospital to ensure integration of various oncology departments to discuss each case on an individual basis and design a treatment plan, there is no genetic counseling and testing for identifying hereditary breast cancer patients. Our aim is to (1) Establish a dedicated biobank for cancer samples: A dedicated biobank for storage of blood and tumor biopsies is ideal for both germline and somatic mutation analysis. We will also collect blood samples collected after every milestone and follow up of the patient which will help develop research projects to identify and test biomarkers for early detection and monitor treatment by liquid biopsy approaches. (2) Integrate a robust genetic counseling component and genetic testing for breast cancer patients which would aid in screening, management and treatment of familial and hereditary breast cancer patients. (3) We plan to develop a novel library preparation strategy for capturing long genomics regions of target genes in breast cancer to be sequenced on the Oxford Nanopore NGS platform. We plan to recruit up to 100 breast cancer patients in 2 years with clinical parameters and history suggesting a familial origin according to NCCN guidelines. We will introduce genetic counseling for the patient and families along with genetic testing for mutations in BRCA1 and BRCA2. A later plan is to expand the panel to additional DNA repair genes involved in the pathophysiology of breast cancer using a next generation sequencing (NGS) panel on Nanopore sequencing technology. My previous training in genomics and liquid biopsy approaches for early cancer detection makes me an ideal candidate to be a lead investigator on the grant. Our ultimate goal is to not only help streamline treatment options but also allow for establishing necessary infrastructure and management plans for building capacity in conducting clinical trials.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Open to Recruitment
- Sex
- All
- Target Recruitment
- 100
- The patients with suspected familial/hereditary breast cancers will be offered genetic counselling.
- Pre-test counseling will involve acquiring detailed family history and offer genetic testing based on criteria suggested by NCCN guidelines for Breast and Ovarian Cancer.
- We expect to recruit up to 100 patients with the following criteria in 2 years based on our current estimates of patient enrollment.
- Following is the criteria for our target audience relevant to patients regularly treated at our hospital.
- According to NCCN guidelines, a patient with breast cancer with at least one of the following: i.Diagnosed at age ≤50 y with unknown or limited family history; or a second breast cancer diagnosed at any age; ii.≥1 close blood relatives with breast, ovarian, pancreatic, or high-grade (Gleason score ≥7) or intraductal prostate cancer at any age iii.Diagnosed at age ≤60 y with triple-negative breast cancer iv.Diagnosed at any age with male breast cancer v.≥1 close relatives with breast cancer at age ≤50 y or ovarian, pancreatic, or metastatic or intraductal prostate cancer at any age; or vi.≥2 close relatives with breast or prostate cancer (any grade) at any age.
- vii.Patients with Triple Negative Breast Cancer.
Patients under 20 years old and patients or their families unable to decide for oneself will be excluded from the study.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method c. Standard operating procedures for genetic counseling and multidisciplinary treatment management plan backed by genetics for breast cancer patients. Baseline cancer. Baseline b. Genetic testing for breast cancer patients. Baseline d. In-house design and validation of a cost-efficient multi gene panel for breast Baseline e. Develop necessary biobanking and clinical trials capability of our hospital and Baseline research center. Baseline a. Genetic counselling for familial and hereditary breast cancers. Baseline
- Secondary Outcome Measures
Name Time Method Expanded breast cancer sequencing panel for genetic testing Baseline
Trial Locations
- Locations (1)
Kasturba Medical College Manipal
🇮🇳Udupi, KARNATAKA, India
Kasturba Medical College Manipal🇮🇳Udupi, KARNATAKA, IndiaRama Rao DamerlaPrincipal investigator08202934038rama.damerla@manipal.edu