4887 a K Chauhan 18 Apr 2024 Blood-merged

Laboratory OneCell Diagnostics India Private Limited
OncoRisk
Laboratory
Report Lab: 209, B Wing, GO Square, Aundh-Hinjewadi Road,
Report
Wakad, Pune 411057 India
Name AK Specimen ID 4887 Ordered By Dr. Ritu Bhutani

Chauhan
Age 74 Specimen Type Blood Institute Glean Cancer Centre &
Multispeciality Hospital
Gender M Collection Date 02 Apr 2024 Test Performed OncoRisk (Germline Cancer
Gene Testing)
Received Date 03 Apr 2024 Constituents of Test Blood Analytes (74 Genes
by NGS)
Report Date 18 Apr 2024
NGS GERMLINE CANCER PANEL
Genetic Result:
No clinically significant variants detected
Note: ‘Clinically significant’, as defined in this report, is a genetic change that is associated with the
potential to alter the medical intervention
Clinical/Family History:
FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS (YEARS)
Patient Healthy Individual NA
Family History Breast Cancer NA
This is an electronically authenticated report. We are available for assistance (24x7x365 days).
This is a comprehensive genomic report which should be evaluated in totality, in conjunction with clinical findings by a certified oncologist. Page 1 of 11
India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Road, Wakad, Pune, 411057, India # 218 Cupertino, CA 95014, USA. www.onecelldx.com
Laboratory
OncoRisk
Report
Additional Findings:
None
Indication for Testing:

It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a
hereditary predisposition for cancer.
Clinical Recommendations:
1. Genetic Counselling is recommended for the patient to better understand the report and further
directions.
2. In case of detection of a clinically significant variant, Clinical correlation of the identified variant and
clinical phenotype is recommended.
3. In case of detection of a clinically significant variant, further genetic testing of the reported variant is
recommended for patient’s parents, other affected and unaffected family members to assist in further
understanding of the clinical significance of the gene variant.

Road, Wakad, Pune, 411057, India # 218 Cupertino, CA 95014, USA.
www.onecelldx.com
Laboratory
OncoRisk
Report
Key for Variant Classification included in report:
ACMG Classification Interpretation

Pathogenic Variants with reported clinical evidence in being associated
to a particular disease
Likely Pathogenic Variants showing a strong evidence that they are causative
of a particular disorder
Uncertain Variants which show limited evidence regarding the effect it

Significance
has on protein function and further in causing the disease.
Information regarding the variants are insufficient to assist
in a definitive classification as a cause of a particular
disorder
Benign/Likely Benign These variants are not reported

www.onecelldx.com
Laboratory
OncoRisk
Report
Genes Evaluated:
ABRAXAS1 APC ATM AXIN2 BAP1
BARD1 BLM BMPR1A BRCA1 BRCA2
BRIP1 CDH1 CDK4 CDKN2A CHEK2
CTNNA1 DICER1 DIS3L2 EGFR EPCAM
FANCC FH FLCN GALNT12 GREM1
HNF1B HOXB13 KIT MC1R MEN1
MET MITF MLH1 MLH3 MRE11
MSH2 MSH3 MSH6 MUTYH NBN
NF1 NTHL1 PALB2 PMS1 PMS2
POLD1 POLE POT1 PRSS1 PTCH1
PTEN RAD50 RAD51C RAD51D RECQL
RET RNF43 SDHA SDHAF2 SDHB
SDHC SDHD SMAD4 SMARCA4 STK11
TERT TGFBR2 TP53 TSC1 TSC2
VHL WT1 XRCC2 XRCC3

www.onecelldx.com
Laboratory
OncoRisk
Report
Test Methodology:
1. Genomic DNA is extracted from the submitted sample, enriched for select regions using a hybridization
protocol, and sequenced using targeted Next Generation Sequencing. Sequence data is aligned to a
reference genome, and variants are identified using a suite of bioinformatic tools designed to detect
single nucleotide variants, small insertions/deletions, and structural variants such as copy number
variants, insertions, and inversions.
2. Variants are classified according to the standards and guidelines for sequence variant interpretation
of the American College of Medical Genetics and Genomics (ACMG). Variant classification categories
include a pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and
benign. All variants are evaluated by a board-certified medical geneticist. Identified likely benign and
benign variants are not reported. The presence of a VUS is always reported, and the details are
available upon request. All VUS and likely pathogenic variants are reviewed annually for updates in the
scientific literature. As part of the One Cell Diagnostics service, we will attempt to recontact the
provider and/or the person that was tested if any reported variant’s classification changes.
3. This test was developed, and its performance characteristics were determined by One Cell Diagnostics,
a clinical laboratory. This test has not been cleared or approved by the United States Food and Drug
Administration (FDA). This test is used for clinical purposes. It should not be regarded as investigational
or research.

www.onecelldx.com
Laboratory
OncoRisk
Report
Limitations:
1. While great care has been taken to ensure the highest performance and accuracy of this test, variant calling artefacts
including False Positive and False Negative variant calls may occur, e.g. Factors associated with sample quality, and
preparation, probe design, performance of kit components etc. Genomic regions of interest with low-complexity nucleotide
sequences, nucleotide bias.
2. CNV detection algorithm is based on the statistical analysis of coverage levels and other factors like pseudogene,
breakpoints inside target regions etc. The algorithm may fail CNV detection with large sample numbers with CNVs at the same
position.
3. High background noise are expected for homopolymers of length ten or higher which may disrupt calling SNVs/INDELs
confidently.
4. Genetic testing may not always provide clinically diagnosable results. Important variants can be missed due to limitations
in technology and current medical knowledge.
5. Although high accuracy is expected out of genetic testing, inaccurate results could also be obtained due to various technical
limitations including but not limited to circumstances such as cellular mosaicism, inaccurate clinical/medical information,
mislabeled samples, etc.
6. Variant interpretation is performed to the best knowledge of the laboratory based on the information available at the time
of reporting. Classification of variants may change over a time and OneCell diagnostics Pvt. Ltd. cannot be held responsible for
this. Re-analysis of variants in previously issued reports in light of new evidence is not routinely performed but may be available
upon request.
7. Report generated from the test is to help the clinician to diagnose / make decisions for the specific medical condition, and
should be evaluated in totality, in conjunction with clinical findings by a certified oncologist.

www.onecelldx.com
Laboratory
OncoRisk
Report
References:
1. Li, Marilyn M et al. “Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in
Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of
Clinical Oncology, and College of American Pathologists.” The Journal of molecular diagnostics: JMD vol. 19,1
(2017): 4-23. doi:10.1016/j.jmoldx.2016.10.002
2. American Cancer Society Guidelines for the Early Detection of Cancer. Updated July 7, 2017. Accessed April
2, 2018. Available at www.cancer.org
3. 12 Skin Cancer Prevention and Early Detection. The American Cancer Society. Updated March 19, 2017.
Accessed April 2, 2018. Available at www.cancer.org
4. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment:
Colorectal. V 3.2019. Dec. Available at http://www.nccn.org.
5. Richard et.al., 2015. Standards and guidelines for the interpretation of sequence variants: a jointconsensus
recommendation of the American College of Medical Genetics and Genomics and the Association for
Molecular Pathology. Genet Med. 2015; 17: 405-424
6. 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM,Korbel JO,
Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature.
2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. PMID:26432245; PMCID: PMC4750478.
7. McKusick VA. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet.2007
Apr;80(4):588-604. doi: 10.1086/514346. Epub 2007 Mar 8. PMID: 17357067; PMCID:PMC1852721

www.onecelldx.com
Laboratory
OncoRisk
Report
Disclaimer:
The classification and interpretation of all variants identified in this assay reflect the current state of
OneCellDx's scientific understanding at the time this report was issued. Variant classification and
interpretation may change for a variety of reasons, including but not limited to, improvements to classification
techniques, availability of additional scientific information, and observation of a variant in more patients.
General Recommendations for All Individuals:
1. Know yourself, your family history, and your risks.

2. Get regular check-ups and cancer screening tests. A cancer-related check-up should include health
counseling and, depending on a person’s age and gender, exams for cancers of the thyroid, oral cavity,
skin, lymph nodes, testes, and ovaries, as well as for some other diseases besides cancer.
3. Get to and stay at a healthy weight.
4. Get moving with regular physical activity.
5. Eat healthy with plenty of fruits and vegetables.
6. Avoid all forms of tobacco.
7. Limit how much alcohol you drink (if you drink at all).
8. Protect your skin.

www.onecelldx.com
Laboratory
OncoRisk
Report
General Questions:
What does a positive result mean?
A positive result means that a mutation, or a genetic change, was identified in a specific gene that increases the lifetime chance of
developing certain disorders. Report contains more detailed risk information specific to the mutation identified in your genes, as well
as information to share with your family members and healthcare provider.
What is a pathogenic mutation?
Pathogenic mutation is a variant in the DNA sequence of a gene that affects its ability to perform a function. Pathogenic mutation is
also referred to as a mutation/significant variant in this report.
Who will see these test results?
Your results are available to you and the healthcare provider who ordered your test, as well as any additional providers you
designated. Your results will not be sent by to your insurance company, employer, or any other healthcare provider without consent.
Should I share my results with my healthcare provider?
Sharing your results with your healthcare provider allows your provider to guide you to appropriate resources and discuss tailored
options for screening, prevention, and management.
Are there any protections against discrimination based on these results?
In 2008, a federal law called the Genetic Information Nondiscrimination Act (GINA) was passed to prohibit medical insurance
companies and employers from discriminating against individuals on the basis of genetic information, including genetic test results,
family cancer history, and even the fact that genetic testing occurred. GINA does not extend to life, disability, or long-term care
insurance, which may be governed under state law. Protection against these and other types of discrimination may vary by state.
Individuals may consider purchasing these policies prior to undergoing genetic testing. Federal and state laws regarding genetic
discrimination change from time to time. We encourage you to keep informed of these important laws and regulations.

www.onecelldx.com
Laboratory
OncoRisk
Report
If there is no one in my family who had cancer, does a reported mutation in a gene still
increase cancer risk?
Yes. Mutations in the genes analyzed may be associated with increased risk of developing certain cancers, regardless
of a family history. We encourage you to speak with your healthcare provider and schedule an appointment with a
board-certified genetic counselor for better management directions.
How can I reduce my risk of developing cancer?
Your healthcare provider can use this information to make a personalized screening and prevention plan. Following
your plan may lower your chance of developing cancer or may increase the chance that any cancer detected will be
diagnosed when it is at an earlier and more treatable stage. Please keep in mind that there is no right or wrong option
when deciding on a plan to reduce your risk of developing cancer. It is a very personal choice.
If I’ve already had cancer, can I get it again?
All individuals who have been diagnosed with cancer have some chance of developing a new primary cancer or a
recurrent cancer in the future. Mutations detected in the report may not signficantly change the risk of developing a
recurrence. We encourage you to speak with your healthcare provider to learn more about your chance of developing
cancer in the future.
Is genetic testing on tumors different than the Germline Test?
Yes. Germline test analyzes the genetic makeup you inherited from your biological parents, which can be found in your
blood and all other cells of your body. Purpose of this germline test is to identify any potential inherited causes for
your cancer in order to provide detailed information about your risk of developing other cancers in the future, as well
as to give important information to your family members. On the other hand, genetic testing on tumor tissue looks for
DNA changes that occurred during tumor formation. These changes are only in the cancer cells, not in any other cells
of your body, and were not inherited from your parents, nor can they be passed down to your children. The primary
purpose of tumor genetic testing is to provide prognostic information and potential targeted treatments.

www.onecelldx.com
Laboratory
OncoRisk
Report
Family Impact:
Should I talk with my relatives about my result?
You are encouraged to share these results with your relatives. It is normal to feel some anxiety about this. Knowing
this information may help your relatives understand their own future risk of developing the same disorder, which may
help them prevent or detect it early. However, keep in mind that not everyone wants to know their risk to develop
disorders and genetic testing is a personal decision. Talking about genetic test results and their impact on the family
is an ongoing discussion rather than a one-time conversation.
Please keep in mind that parents do not choose to pass a specific gene mutation to their children. Your risk is not
affected by whether a mutation was passed to you from your father or your mother.
*The statements made herein are for informational purposes only and do not constitute legal
advice.
Additional notes for management (if any):
Electronically Signed By
Dr. Gowhar Shafi, Ph.D. Dr. Hrishita Kothavade
Chief Medical Geneticist Consultant Oncopathologist Reg. No: 2011/08/2861

www.onecelldx.com
OncoRisk
Laboratory
Report
Name Basera Specimen ID 4888 Ordered By Dr. Ritu Bhutani

Rekha
Age 64 Specimen Type Blood Institute Glean Cancer Centre &

Multispeciality Hospital
Gender F Collection Date 02 Apr 2024 Test Performed OncoRisk (Germline Cancer
Gene Testing)
Received Date 03 Apr 2024 Constituents of Test Blood Analytes (74 Genes
by NGS)
Report Date 18 Apr 2024
NGS GERMLINE CANCER PANEL
Genetic Result:
Pathogenic variant detected
Note: ‘Clinically significant’, as defined in this report, is a genetic change that is associated with the
potential to alter the medical intervention
Gene Chr Location Alteration Zygosity Classification Associated Risk

(Transcript ID)
BRCA2 chr13:32357805 c.7681C>T Heterozygous Pathogenic High Risk

(NM_000059.4) (p.Q2561*)
(p.Gln2561Ter)
Details About: BRCA2: c.7681C>T (p.Gln2561Ter)
Gene Summary: BRCA2, breast cancer type 2 susceptibility protein, is a tumor suppressor, involved in the DNA damage
response and DNA repair (Wang, Li-Hui et al. 2018;Wu, Jiaxue et al. 2010). BRCA2 germline mutations increase the risk of
developing ovarian and/or breast cancer (Milne, R L, and A C Antoniou. 2011).

Road, Wakad, Pune, 411057, India # 218 Cupertino, CA 95014, USA. www.onecelldx.com
Laboratory
OncoRisk
Report
Variant Details: The p.Q2561* pathogenic mutation (also known as c.7681C>T), located in coding exon 15 of the BRCA2
gene, results from a C to T substitution at nucleotide position 7681. This changes the amino acid from a glutamine to a stop
codon within coding exon 15. This alteration is expected to result in loss of function by premature protein truncation or
nonsense-mediated mRNA decay.
Clinical/Family History:
FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS (YEARS)
Patient Healthy Individual NA
Family History Breast Cancer NA

www.onecelldx.com
Laboratory
OncoRisk
Report
Additional Findings (VUS):
None
Indication for Testing:

It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a
hereditary predisposition for cancer.
Clinical Recommendations:
1. Genetic Counselling is recommended for the patient to better understand the report and further
directions.
2. In case of detection of a clinically significant variant, Clinical correlation of the identified variant and clinical
phenotype is recommended.
3. In case of detection of a clinically significant variant, further genetic testing of the reported variant is
recommended for patient’s parents, other affected and unaffected family members to assist in further
understanding of the clinical significance of the gene variant.

www.onecelldx.com
Laboratory
OncoRisk
Report
Key for Variant Classification included in report:
ACMG Classification Interpretation

Pathogenic Variants with reported clinical evidence in being associated
to a particular disease
Likely Pathogenic Variants showing a strong evidence that they are causative
of a particular disorder
Uncertain Variants which show limited evidence regarding the effect it

Significance
has on protein function and further in causing the disease.
Information regarding the variants are insufficient to assist
in a definitive classification as a cause of a particular
disorder
Benign/Likely Benign These variants are not reported

www.onecelldx.com
Laboratory
OncoRisk
Report
Genes Evaluated:
ABRAXAS1 APC ATM AXIN2 BAP1
BARD1 BLM BMPR1A BRCA1 BRCA2
BRIP1 CDH1 CDK4 CDKN2A CHEK2
CTNNA1 DICER1 DIS3L2 EGFR EPCAM
FANCC FH FLCN GALNT12 GREM1
HNF1B HOXB13 KIT MC1R MEN1
MET MITF MLH1 MLH3 MRE11
MSH2 MSH3 MSH6 MUTYH NBN
NF1 NTHL1 PALB2 PMS1 PMS2
POLD1 POLE POT1 PRSS1 PTCH1
PTEN RAD50 RAD51C RAD51D RECQL
RET RNF43 SDHA SDHAF2 SDHB
SDHC SDHD SMAD4 SMARCA4 STK11
TERT TGFBR2 TP53 TSC1 TSC2
VHL WT1 XRCC2 XRCC3

www.onecelldx.com
Laboratory
OncoRisk
Report
Test Methodology:
1. Genomic DNA is extracted from the submitted sample, enriched for select regions using a hybridization
protocol, and sequenced using targeted Next Generation Sequencing. Sequence data is aligned to a
reference genome, and variants are identified using a suite of bioinformatic tools designed to detect
single nucleotide variants, small insertions/deletions, and structural variants such as copy number
variants, insertions, and inversions.
2. Variants are classified according to the standards and guidelines for sequence variant interpretation
of the American College of Medical Genetics and Genomics (ACMG). Variant classification categories
include a pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and
benign. All variants are evaluated by a board-certified medical geneticist. Identified likely benign and
benign variants are not reported. The presence of a VUS is always reported, and the details are
available upon request. All VUS and likely pathogenic variants are reviewed annually for updates in the
scientific literature. As part of the One Cell Diagnostics service, we will attempt to recontact the
provider and/or the person that was tested if any reported variant’s classification changes.
3. This test was developed, and its performance characteristics were determined by One Cell Diagnostics,
a clinical laboratory. This test has not been cleared or approved by the United States Food and Drug
Administration (FDA). This test is used for clinical purposes. It should not be regarded as investigational
or research.

www.onecelldx.com
Laboratory
OncoRisk
Report
Limitations:
1. While great care has been taken to ensure the highest performance and accuracy of this test, variant calling artefacts
including False Positive and False Negative variant calls may occur, e.g. Factors associated with sample quality, and
preparation, probe design, performance of kit components etc. Genomic regions of interest with low-complexity nucleotide
sequences, nucleotide bias.
2. CNV detection algorithm is based on the statistical analysis of coverage levels and other factors like pseudogene,
breakpoints inside target regions etc. The algorithm may fail CNV detection with large sample numbers with CNVs at the same
position.
3. High background noise are expected for homopolymers of length ten or higher which may disrupt calling SNVs/INDELs
confidently.
4. Genetic testing may not always provide clinically diagnosable results. Important variants can be missed due to limitations
in technology and current medical knowledge.
5. Although high accuracy is expected out of genetic testing, inaccurate results could also be obtained due to various technical
limitations including but not limited to circumstances such as cellular mosaicism, inaccurate clinical/medical information,
mislabeled samples, etc.
6. Variant interpretation is performed to the best knowledge of the laboratory based on the information available at the time
of reporting. Classification of variants may change over a time and OneCell diagnostics Pvt. Ltd. cannot be held responsible for
this. Re-analysis of variants in previously issued reports in light of new evidence is not routinely performed but may be available
upon request.
7. Report generated from the test is to help the clinician to diagnose / make decisions for the specific medical condition, and
should be evaluated in totality, in conjunction with clinical findings by a certified oncologist.

www.onecelldx.com
Laboratory
OncoRisk
Report
References:
1. 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM,Korbel JO,
Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation.
Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. PMID:26432245; PMCID:
PMC4750478.
2. American Cancer Society Guidelines for the Early Detection of Cancer. Updated July 7, 2017.
3. Cancer Prevention and Early Detection. The American Cancer Society. Updated March 19, 2017.
4. Cisyk, Amy L., et al. "Characterizing microsatellite instability and chromosome instability in interval
colorectal cancers." Neoplasia 20.9 (2018): 943-950.
5. Li, Marilyn M et al. “Standards and Guidelines for the Interpretation and Reporting of Sequence
Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology,
American Society of Clinical Oncology, and College of American Pathologists.” The Journal of
molecular diagnostics: JMD vol. 19,1 (2017): 4-23. doi:10.1016/j.jmoldx.2016.10.002
6. Li, Marilyn M., et al. "Standards and guidelines for the interpretation and reporting of sequence
variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology,
American Society of Clinical Oncology, and College of American Pathologists." The Journal of
molecular diagnostics 19.1 (2017): 4-23.
7. Manchana, Tarinee, et al. "Lynch syndrome in Thai endometrial cancer patients." Asian Pacific Journal
of Cancer Prevention: APJCP 22.5 (2021): 1477.
8. Mardis, Elaine R. "Neoantigens and genome instability: impact on immunogenomic phenotypes and
immunotherapy response." Genome medicine 11.1 (2019): 71.
9. McKusick VA. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet.2007
Apr;80(4):588-604. doi: 10.1086/514346. Epub 2007 Mar 8. PMID: 17357067; PMCID:PMC1852721
10. Milne, R L, and A C Antoniou. “Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation
carriers.” Annals Of oncology : official journal of the European Society for Medical Oncology vol. 22
Suppl 1 (2011): i11-7.doi:10.1093/annonc/mdq660

www.onecelldx.com
Laboratory
OncoRisk
Report
11. Peltomäki, Päivi, and Hans Vasen. "Mutations associated with HNPCC predisposition--Update of ICG-
HNPCC/INSiGHT mutation database." Disease markers 20.4-5 (2004): 269-276.
12. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk
Assessment: Colorectal. V 3.2019. Dec. Available at http://www.nccn.org.
13. Richard et.al., 2015. Standards and guidelines for the interpretation of sequence variants: a
jointconsensus recommendation of the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology. Genet Med. 2015; 17: 405-424
14. Wang, Li-Hui et al. “Loss of Tumor Suppressor Gene Function in Human Cancer: An Overview.” Cellular
physiology and biochemistry : international journal of experimental cellular physiology, biochemistry,
and pharmacology vol. 51,6 (2018):2647-2693. doi:10.1159/000495956
15. Wu, Jiaxue et al. “The role of BRCA1 in DNA damage response.” Protein & cell vol. 1,2 (2010): 117-
23. doi:10.1007/s13238-010-0010-5
Disclaimer:
The classification and interpretation of all variants identified in this assay reflect the current state of
OneCellDx's scientific understanding at the time this report was issued. Variant classification and
interpretation may change for a variety of reasons, including but not limited to, improvements to classification
techniques, availability of additional scientific information, and observation of a variant in more patients.
General Recommendations for All Individuals:
1. Know yourself, your family history, and your risks.

2. Get regular check-ups and cancer screening tests. A cancer-related check-up should include health
counseling and, depending on a person’s age and gender, exams for cancers of the thyroid, oral cavity,
skin, lymph nodes, testes, and ovaries, as well as for some other diseases besides cancer.
3. Get to and stay at a healthy weight.
4. Get moving with regular physical activity.
5. Eat healthy with plenty of fruits and vegetables.
6. Avoid all forms of tobacco.
7. Limit how much alcohol you drink (if you drink at all).
8. Protect your skin.

www.onecelldx.com
Laboratory
OncoRisk
Report
General Questions:
What does a positive result mean?
A positive result means that a mutation, or a genetic change, was identified in a specific gene that increases the lifetime chance of
developing certain disorders. Report contains more detailed risk information specific to the mutation identified in your genes, as well
as information to share with your family members and healthcare provider.
What is a pathogenic mutation?
Pathogenic mutation is a variant in the DNA sequence of a gene that affects its ability to perform a function. Pathogenic mutation is
also referred to as a mutation/significant variant in this report.
Who will see these test results?
Your results are available to you and the healthcare provider who ordered your test, as well as any additional providers you
designated. Your results will not be sent by to your insurance company, employer, or any other healthcare provider without consent.
Should I share my results with my healthcare provider?
Sharing your results with your healthcare provider allows your provider to guide you to appropriate resources and discuss tailored
options for screening, prevention, and management.
Are there any protections against discrimination based on these results?
In 2008, a federal law called the Genetic Information Nondiscrimination Act (GINA) was passed to prohibit medical insurance
companies and employers from discriminating against individuals on the basis of genetic information, including genetic test results,
family cancer history, and even the fact that genetic testing occurred. GINA does not extend to life, disability, or long-term care
insurance, which may be governed under state law. Protection against these and other types of discrimination may vary by state.
Individuals may consider purchasing these policies prior to undergoing genetic testing. Federal and state laws regarding genetic
discrimination change from time to time. We encourage you to keep informed of these important laws and regulations.

www.onecelldx.com
Laboratory
OncoRisk
Report
If there is no one in my family who had cancer, does a reported mutation in a gene still
increase cancer risk?
Yes. Mutations in the genes analyzed may be associated with increased risk of developing certain cancers, regardless
of a family history. We encourage you to speak with your healthcare provider and schedule an appointment with a
board-certified genetic counselor for better management directions.
How can I reduce my risk of developing cancer?
Your healthcare provider can use this information to make a personalized screening and prevention plan. Following
your plan may lower your chance of developing cancer or may increase the chance that any cancer detected will be
diagnosed when it is at an earlier and more treatable stage. Please keep in mind that there is no right or wrong option
when deciding on a plan to reduce your risk of developing cancer. It is a very personal choice.
If I’ve already had cancer, can I get it again?
All individuals who have been diagnosed with cancer have some chance of developing a new primary cancer or a
recurrent cancer in the future. Mutations detected in the report may not signficantly change the risk of developing a
recurrence. We encourage you to speak with your healthcare provider to learn more about your chance of developing
cancer in the future.
Is genetic testing on tumors different than the Germline Test?
Yes. Germline test analyzes the genetic makeup you inherited from your biological parents, which can be found in your
blood and all other cells of your body. Purpose of this germline test is to identify any potential inherited causes for
your cancer in order to provide detailed information about your risk of developing other cancers in the future, as well
as to give important information to your family members. On the other hand, genetic testing on tumor tissue looks for
DNA changes that occurred during tumor formation. These changes are only in the cancer cells, not in any other cells
of your body, and were not inherited from your parents, nor can they be passed down to your children. The primary
purpose of tumor genetic testing is to provide prognostic information and potential targeted treatments.

www.onecelldx.com
Laboratory
OncoRisk
Report
Family Impact:
Should I talk with my relatives about my result?
You are encouraged to share these results with your relatives. It is normal to feel some anxiety about this. Knowing
this information may help your relatives understand their own future risk of developing the same disorder, which may
help them prevent or detect it early. However, keep in mind that not everyone wants to know their risk to develop
disorders and genetic testing is a personal decision. Talking about genetic test results and their impact on the family
is an ongoing discussion rather than a one-time conversation.
Please keep in mind that parents do not choose to pass a specific gene mutation to their children. Your risk is not
affected by whether a mutation was passed to you from your father or your mother.
*The statements made herein are for informational purposes only and do not constitute legal
advice.
Additional notes for management (if any):
Electronically Signed By
Dr. Gowhar Shafi, Ph.D. Dr. Hrishita Kothavade

Chief Medical Geneticist Consultant Oncopathologist Reg. No: 2011/08/2861

www.onecelldx.com

4887 a K Chauhan 18 Apr 2024 Blood-merged

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4887 a K Chauhan 18 Apr 2024 Blood-merged

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Laboratory OneCell Diagnostics India Private Limited

Name AK Specimen ID 4887 Ordered By Dr. Ritu Bhutani

Report Date 18 Apr 2024

NGS GERMLINE CANCER PANEL

No clinically significant variants detected

FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS (YEARS)

Patient Healthy Individual NA

Family History Breast Cancer NA

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Indication for Testing:

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Key for Variant Classification included in report:

ACMG Classification Interpretation

Uncertain Variants which show limited evidence regarding the effect it

Benign/Likely Benign These variants are not reported

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

General Recommendations for All Individuals:

1. Know yourself, your family history, and your risks.

8. Protect your skin.

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

What does a positive result mean?

What is a pathogenic mutation?

Who will see these test results?

Should I share my results with my healthcare provider?

Are there any protections against discrimination based on these results?

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

How can I reduce my risk of developing cancer?

If I’ve already had cancer, can I get it again?

Is genetic testing on tumors different than the Germline Test?

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Should I talk with my relatives about my result?

Additional notes for management (if any):

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Name Basera Specimen ID 4888 Ordered By Dr. Ritu Bhutani

Age 64 Specimen Type Blood Institute Glean Cancer Centre &

Report Date 18 Apr 2024

NGS GERMLINE CANCER PANEL

Pathogenic variant detected

Gene Chr Location Alteration Zygosity Classification Associated Risk

BRCA2 chr13:32357805 c.7681C>T Heterozygous Pathogenic High Risk

Details About: BRCA2: c.7681C>T (p.Gln2561Ter)

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

FAMILY MEMBER CANCER / CLINICAL DIAGNOSIS AGE AT DIAGNOSIS (YEARS)

Patient Healthy Individual NA

Family History Breast Cancer NA

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Additional Findings (VUS):

Indication for Testing:

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

Key for Variant Classification included in report:

ACMG Classification Interpretation

Uncertain Variants which show limited evidence regarding the effect it

Benign/Likely Benign These variants are not reported

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

India: B209, Go Square, Aundh-Hinjewadi USA: 20380 Town Center Lane,

General Recommendations for All Individuals:

1. Know yourself, your family history, and your risks.