Sentis Hereditary Breast & Ovarian Cancer Panel at Chughtai Lab

Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) at Chughtai Lab

The Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) at Chughtai Lab is a state-of-the-art molecular diagnostic test designed to identify germline genetic mutations that significantly increase an individual's risk of developing breast, ovarian, fallopian tube, and primary peritoneal cancers. Developed by Genetech, this comprehensive gene panel utilizes advanced Next-Generation Sequencing (NGS) technology to analyze specific high-penetrance and moderate-penetrance genes associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome and other related hereditary cancer predisposition syndromes. By identifying these genetic variants, the test provides invaluable clinical insights that empower patients and their healthcare providers to make informed decisions regarding cancer surveillance, risk-reduction strategies, and personalized therapeutic interventions.

Understanding your genetic blueprint is a crucial step in modern preventive oncology. While the majority of breast and ovarian cancers occur sporadically, approximately 5% to 10% of breast cancers and up to 15% of ovarian cancers are hereditary, meaning they are caused by inherited pathogenic mutations passed down through families. The Sentis Hereditary Breast & Ovarian Cancer Panel evaluates critical genes, most notably BRCA1 and BRCA2, alongside other essential genes such as PALB2, TP53, PTEN, CDH1, STK11, CHEK2, and ATM. Identifying a mutation in one of these genes allows for early detection and proactive management, which can be life-saving. Chughtai Lab, a leading diagnostic network in Pakistan, offers this highly specialized molecular test to ensure patients have access to international-standard genomic testing and comprehensive clinical reporting.

Clinical Procedure: What to Expect

Patient Preparation

Preparing for the Sentis Hereditary Breast & Ovarian Cancer Panel is straightforward, but it requires careful clinical coordination. Because this is a highly specialized genetic test, patients should observe the following preparation guidelines:

• Genetic Counseling: It is highly recommended that patients undergo pre-test genetic counseling with a qualified genetic counselor or oncologist. This session helps patients understand the clinical implications, potential outcomes, and psychological impact of genetic testing.
• Informed Consent: A signed informed consent form is mandatory before the sample can be collected. This document verifies that the patient understands the scope, benefits, and limitations of the genetic panel.
• No Fasting Required: If a blood sample is being collected, there is no need to fast. Patients can eat and drink normally prior to the blood draw.
• Saliva Sample Requirements (if applicable): In cases where a saliva sample is used instead of blood, patients must not eat, drink, smoke, chew gum, or brush their teeth for at least 30 minutes before providing the sample to ensure DNA purity.
• Medical History Documentation: Patients should provide a detailed personal and family medical history, ideally including a multi-generational family pedigree highlighting any cancer diagnoses, ages of onset, and previous genetic test results of family members.

During the Procedure

The procedure for sample collection is quick, minimally invasive, and conducted under strict sterile conditions by experienced phlebotomists at Chughtai Lab:

• Sample Collection: The primary sample type is peripheral blood. The phlebotomist will locate a suitable vein in the patient's arm, cleanse the area with an antiseptic swab, and insert a sterile needle to draw a small volume of blood into an EDTA (purple-top) tube.
• Alternative Sample (Saliva): If a saliva sample is preferred or clinically indicated, the patient will be instructed to spit into a specialized collection funnel up to a designated fill line, which is then mixed with a stabilizing preservative solution.
• Duration: The physical collection process takes less than five minutes and is associated with minimal discomfort, similar to a routine blood test.
• Safety and Quality Control: Chughtai Lab adheres to stringent quality control protocols. The sample is immediately barcoded, logged into the laboratory information management system, and transported under controlled temperature conditions to the molecular diagnostics department to prevent degradation.
• Laboratory Processing: In the laboratory, genomic DNA is extracted from the sample, quantified, and prepared for Next-Generation Sequencing (NGS). The DNA is sequenced to high depth, and advanced bioinformatics pipelines are utilized to align the data, call variants, and interpret clinical significance.

When is a Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) Performed?

Personal History of Early-Onset Breast Cancer

Physicians frequently order the Sentis panel for individuals diagnosed with breast cancer at a young age, typically 50 years or younger. Early-onset breast cancer is a strong clinical indicator of an underlying genetic predisposition, such as a germline BRCA1 or BRCA2 mutation. Identifying these mutations in a newly diagnosed patient is critical, as it influences surgical planning—such as choosing a bilateral mastectomy over a lumpectomy to prevent secondary primary cancers—and guides systemic therapy options, including the use of targeted agents like PARP inhibitors.

Family History of Breast, Ovarian, or Pancreatic Cancers

A strong family history of malignancies is one of the most common reasons for performing genetic testing. If an individual has multiple close relatives (first-, second-, or third-degree) diagnosed with breast, ovarian, fallopian tube, primary peritoneal, pancreatic, or prostate cancer, the risk of a hereditary cancer syndrome is elevated. The Sentis panel helps determine if a specific pathogenic variant is segregating within the family, allowing unaffected relatives to undergo predictive testing and implement enhanced surveillance protocols long before any symptoms appear.

Diagnosis of Epithelial Ovarian Cancer

Clinical guidelines recommend that every individual diagnosed with epithelial ovarian, fallopian tube, or primary peritoneal cancer undergo genetic testing, regardless of their age at diagnosis or family history. Ovarian cancer has a high association with inherited genetic mutations, particularly in the BRCA1 and BRCA2 genes. Knowing the mutation status not only helps in understanding the etiology of the disease but also has immediate therapeutic implications, as patients with BRCA mutations often show superior responses to platinum-based chemotherapies and PARP inhibitor maintenance therapies.

Triple-Negative Breast Cancer Diagnosis

Triple-negative breast cancer (TNBC), which lacks estrogen receptors, progesterone receptors, and HER2 amplification, is biologically aggressive and highly correlated with germline BRCA1 mutations. Genetic testing with the Sentis panel is indicated for individuals diagnosed with TNBC at or before the age of 60. Identifying a mutation in these patients helps oncologists tailor chemotherapy regimens and assess the risk of contralateral breast cancer and ovarian cancer, facilitating comprehensive long-term management.

Male Breast Cancer and Other Rare Presentations

Breast cancer in men is rare and strongly associated with inherited genetic mutations, particularly in the BRCA2 gene. Any male diagnosed with breast cancer is an immediate candidate for genetic testing using the Sentis panel. Additionally, individuals with a personal or family history of multiple primary cancers (such as bilateral breast cancer or both breast and ovarian cancer) or individuals of Ashkenazi Jewish ancestry with a history of breast or ovarian cancer should undergo testing due to the higher prevalence of founder mutations.

What Does a Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) Detect?

The Sentis Hereditary Breast & Ovarian Cancer Panel is designed to detect a wide spectrum of genetic alterations within cancer susceptibility genes. These findings include:

• Pathogenic variants in the BRCA1 gene associated with high risks of breast and ovarian cancer.
• Likely pathogenic variants in the BRCA1 gene indicating a high probability of clinical relevance.
• Pathogenic variants in the BRCA2 gene associated with breast, ovarian, prostate, and pancreatic cancers.
• Likely pathogenic variants in the BRCA2 gene indicating elevated cancer risks.
• Variants of Uncertain Significance (VUS) in the BRCA1 gene, requiring ongoing clinical monitoring.
• Variants of Uncertain Significance (VUS) in the BRCA2 gene, where further clinical data is needed.
• Pathogenic mutations in the PALB2 gene, which works closely with BRCA2 to repair DNA.
• Pathogenic alterations in the TP53 gene, associated with Li-Fraumeni syndrome.
• Pathogenic mutations in the PTEN gene, associated with Cowden syndrome and hamartoma tumor syndrome.
• Pathogenic variants in the CDH1 gene, linked to hereditary diffuse gastric cancer and lobular breast cancer.
• Pathogenic mutations in the STK11 gene, associated with Peutz-Jeghers syndrome.
• Pathogenic variants in the CHEK2 gene, which confers a moderate risk of breast and colon cancers.
• Pathogenic mutations in the ATM gene, associated with moderate breast cancer risk and ataxia-telangiectasia carriership.
• Pathogenic variants in the BARD1 gene, linked to increased risk of triple-negative breast cancer.
• Pathogenic mutations in the RAD51C gene, associated with hereditary ovarian cancer susceptibility.
• Pathogenic variants in the RAD51D gene, linked to elevated ovarian cancer risk.
• Large genomic deletions or duplications (copy number variations) in the BRCA1 locus.
• Large genomic rearrangements, deletions, or duplications in the BRCA2 locus.
• Benign genetic polymorphisms in BRCA1 and BRCA2 that do not alter protein function.
• Likely benign variants in cancer-predisposing genes that do not require clinical intervention.
• No clinically significant variants detected, indicating a negative panel result.
• Splice-site mutations that disrupt normal gene splicing and lead to non-functional proteins.

Turnaround Time and Report Access at Chughtai Lab

Due to the highly complex nature of Next-Generation Sequencing (NGS), bioinformatics alignment, and clinical variant interpretation, the turnaround time for the Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) at Chughtai Lab is typically 3 to 4 weeks. This period ensures that every identified genetic variant is thoroughly analyzed, cross-referenced with international genomic databases (such as ClinVar and the ACMG guidelines), and verified by molecular pathologists to guarantee the highest level of diagnostic accuracy.

Once the comprehensive genetic report is finalized, Chughtai Lab provides multiple convenient ways for patients and clinicians to access the results. Reports can be downloaded directly from the official Chughtai Lab website using the secure patient portal, or accessed via the Chughtai Lab mobile application. Additionally, patients can receive their reports via email or collect a printed copy from any Chughtai Lab diagnostic center or collection point across Pakistan. Given the profound implications of genetic test results, patients are strongly advised to review their reports during a post-test genetic counseling session.

Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech) Findings Overview

Structure / Parameter Evaluated	Normal Findings	Possible Abnormal Findings
BRCA1 Gene	No pathogenic or likely pathogenic variants detected	Pathogenic or likely pathogenic mutation (high risk of breast, ovarian, and fallopian tube cancers)
BRCA2 Gene	No pathogenic or likely pathogenic variants detected	Pathogenic or likely pathogenic mutation (high risk of breast, ovarian, male breast, pancreatic, and prostate cancers)
PALB2 Gene	No pathogenic or likely pathogenic variants detected	Pathogenic mutation (increased risk of female breast and pancreatic cancers)
TP53 Gene	No pathogenic or likely pathogenic variants detected	Pathogenic mutation (Li-Fraumeni syndrome, high risk of early-onset sarcomas, breast, and adrenal cancers)
PTEN Gene	No pathogenic or likely pathogenic variants detected	Pathogenic mutation (Cowden syndrome, increased risk of breast, thyroid, and endometrial cancers)
CHEK2 & ATM Genes	No pathogenic or likely pathogenic variants detected	Pathogenic mutation (moderate risk of breast, prostate, and colon cancers)
RAD51C & RAD51D Genes	No pathogenic or likely pathogenic variants detected	Pathogenic mutation (increased risk of epithelial ovarian and fallopian tube cancers)
Variant Classification (ACMG)	Benign or likely benign variants only	Variant of Uncertain Significance (VUS) or Pathogenic/Likely Pathogenic variant

Note: Diagnostic findings should always be interpreted by a qualified healthcare professional together with the patient’s symptoms, medical history, physical examination, laboratory investigations, previous imaging studies, and other relevant clinical information. Additional investigations or specialist consultation may be recommended depending on the findings.

Why Choose Chughtai Lab for Sentis Hereditary Breast & Ovarian Cancer Panel (Genetech)?

• Experienced Healthcare Professionals: Chughtai Lab employs highly qualified molecular pathologists, geneticists, and laboratory technologists specialized in genomic sequencing.
• Patient-Focused Care: The lab provides a compassionate, supportive environment, ensuring patients are guided through every step of their genetic testing journey.
• Quality Diagnostic Services: Operating with strict adherence to international laboratory standards, Chughtai Lab ensures the highest level of analytical precision.
• Professional Reporting: Reports are comprehensive, detailed, and structured according to ACMG guidelines, making them easy for oncologists to interpret.
• Modern Diagnostic Approach: Utilizing state-of-the-art Next-Generation Sequencing (NGS) platforms and advanced bioinformatics tools for variant analysis.
• Comfortable Environment: Patients experience professional, clean, and comfortable sample collection facilities at all major diagnostic centers.
• Convenient Location: With an extensive network of labs and collection centers across Pakistan, accessing genetic testing is highly convenient.
• Commitment to Accurate Diagnosis: Chughtai Lab is dedicated to delivering reliable, timely, and confidential genetic results to support clinical decision-making.