FULL DETAILS (Read-only)  -> Click Here to Create PDF for Current Dataset of Trial
CTRI Number  CTRI/2021/04/032972 [Registered on: 20/04/2021] Trial Registered Prospectively
Last Modified On: 30/08/2023
Post Graduate Thesis  No 
Type of Trial  Observational 
Type of Study   Cohort Study 
Study Design  Other 
Public Title of Study   Genetic Counseling and Testing for Hereditary Breast Cancer 
Scientific Title of Study   Establishing Genetic Counseling and Genetic Testing for Familial and Hereditary Breast Cancers at a Tertiary Referral Center in India 
Trial Acronym   
Secondary IDs if Any  
Secondary ID  Identifier 
NIL  NIL 
 
Details of Principal Investigator or overall Trial Coordinator (multi-center study)  
Name  Rama Rao Damerla 
Designation  Assistant Professor 
Affiliation  Manipal Academy of Higher Education 
Address  Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Udupi
KARNATAKA
576104
India 
Phone  9989955566  
Fax    
Email  rama.damerla@manipal.edu  
 
Details of Contact Person
Scientific Query
 
Name  Rama Rao Damerla 
Designation  Assistant Professor 
Affiliation  Manipal Academy of Higher Education 
Address  Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Udupi
KARNATAKA
576104
India 
Phone  9989955566  
Fax    
Email  rama.damerla@manipal.edu  
 
Details of Contact Person
Public Query
 
Name  Rama Rao Damerla 
Designation  Assistant Professor 
Affiliation  Manipal Academy of Higher Education 
Address  Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Dept. of Medical Geentics KMC Manipal Manipal Academy of Higher Education Manipal
Udupi
KARNATAKA
576104
India 
Phone  9989955566  
Fax    
Email  rama.damerla@manipal.edu  
 
Source of Monetary or Material Support  
Pfizer 2020 Breast Cancer Competitive Research Grant Program for AfME, Asia, LatAm 
 
Primary Sponsor  
Name  Pfizer 
Address  235 East 42nd Street, New York, NY 10017 
Type of Sponsor  Pharmaceutical industry-Global 
 
Details of Secondary Sponsor  
Name  Address 
NIL  NIL 
 
Countries of Recruitment     India  
Sites of Study  
No of Sites = 1  
Name of Principal Investigator  Name of Site  Site Address  Phone/Fax/Email 
Rama Rao Damerla  Kasturba Medical College Manipal  Dept of Medical Genetics Central Research Labs Kasturba Medical College Manipal
Udupi
KARNATAKA 
08202934038

rama.damerla@manipal.edu 
 
Details of Ethics Committee  
No of Ethics Committees= 1  
Name of Committee  Approval Status 
Kasturba Medical College and Hospital Institutional Ethics Committee  Approved 
 
Regulatory Clearance Status from DCGI  
Status 
Not Applicable 
 
Health Condition / Problems Studied  
Health Type  Condition 
Patients  (1) ICD-10 Condition: D05||Carcinoma in situ of breast, (2) ICD-10 Condition: C50||Malignant neoplasm of breast,  
 
Intervention / Comparator Agent  
Type  Name  Details 
 
Inclusion Criteria  
Age From  20.00 Year(s)
Age To  75.00 Year(s)
Gender  Both 
Details  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
 
 
ExclusionCriteria 
Details  Patients under 20 years old and patients or their families unable to decide for oneself will be excluded from the study.  
 
Method of Generating Random Sequence   Not Applicable 
Method of Concealment   Not Applicable 
Blinding/Masking   Not Applicable 
Primary Outcome  
Outcome  TimePoints 
a. Genetic counselling for familial and hereditary breast cancers.
b. Genetic testing for breast cancer patients.
c. Standard operating procedures for genetic counseling and multidisciplinary treatment management plan backed by genetics for breast cancer patients.
d. In-house design and validation of a cost-efficient multi gene panel for breast
cancer.
e. Develop necessary biobanking and clinical trials capability of our hospital and
research center.
 
Baseline 
 
Secondary Outcome  
Outcome  TimePoints 
Expanded breast cancer sequencing panel for genetic testing  Baseline 
 
Target Sample Size   Total Sample Size="100"
Sample Size from India="100" 
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" 
Phase of Trial   N/A 
Date of First Enrollment (India)   01/05/2021 
Date of Study Completion (India) Applicable only for Completed/Terminated trials 
Date of First Enrollment (Global)  Date Missing 
Date of Study Completion (Global) Applicable only for Completed/Terminated trials 
Estimated Duration of Trial   Years="2"
Months="6"
Days="0" 
Recruitment Status of Trial (Global)
Modification(s)  
Not Applicable 
Recruitment Status of Trial (India)  Open to Recruitment 
Publication Details   Nil 
Individual Participant Data (IPD) Sharing Statement

Will individual participant data (IPD) be shared publicly (including data dictionaries)?  

Response - YES
  1. What data in particular will be shared?
    Response - Individual participant data that underlie the results reported in this article, after de-identification (text, tables, figures, and appendices).

  2. What additional supporting information will be shared?
    Response - None of the above

  3. Who will be able to view these files?
    Response - Anyone

  4. For what types of analyses will this data be available?
    Response (Others) -  Bioinformatic analysis of part of patient DNA sequencing data

  5. By what mechanism will data be made available?
    Response (Others) -  As a link on publication site.

  6. For how long will this data be available start date provided 31-12-2023 and end date provided 31-12-2028?
    Response - Immediately following publication. No end date.

  7. Any URL or additional information regarding plan/policy for sharing IPD? 
    Additional Information - NIL
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.

 
Close