Healthcare
26 columns
100 rows
8 formats

Hereditary Cancer Syndrome Testing

This dataset provides detailed records of hereditary cancer syndrome genetic testing, including patient demographics, test results for key genes (such as BRCA1/2, Lynch syndrome, TP53, PTEN), risk assessments, and recommendations for cascade testing. It enables robust analysis of genetic risk, variant prevalence, and clinical follow-up, supporting precision medicine and family-based cancer prevention strategies.

last updated 2 Nov 2025
by GoMask

The brief that made it

Clinical decision support for hereditary cancer risk management

Sample rows

preview · 8 of 100 rows · all 26 columns

test_idstring	risk_assessment_categorystring	risk_assessment_scorefloat	family_history_cancerboolean	variant_genestring	patient_idstring	patient_first_namestring	patient_last_namestring	patient_date_of_birthdate	patient_genderstring	patient_ethnicitystring	personal_history_cancerboolean	test_datedate	test_typestring	genes_testedstring	pathogenic_variant_detectedboolean	variant_descriptionstring	variant_classificationstring	cascade_testing_recommendedboolean	cascade_testing_completedboolean	referring_physician_idstring	referring_physician_namestring	institution_namestring	institution_citystring	institution_statestring	institution_countrystring
TEST00001	low	1.3	true	blank	PAT1001	Jennifer	Miller	1974-08-15	female	White	false	2022-09-13	BRCA1/2	BRCA1,BRCA2	false	blank	not detected	false	blank	PHY3001	Dr. Rachel Ford	Midwest Oncology Center	Chicago	IL	USA
TEST00002	high	7.5	true	MSH2	PAT1002	Samuel	Nguyen	1968-03-23	male	Asian	true	2023-03-16	Lynch syndrome	MLH1,MSH2,MSH6,PMS2,EPCAM	true	c.942+3A>T	pathogenic	true	false	PHY3021	Dr. Kevin Lee	Pacific Genetics Clinic	San Francisco	CA	USA
TEST00003	low	0.9	false	blank	PAT1003	Maria	Santos	1980-11-27	female	Hispanic	false	2023-01-08	BRCA1/2	BRCA1,BRCA2	false	blank	not detected	false	blank	PHY3032	Dr. Jorge Ramirez	Sunrise Medical Center	Phoenix	AZ	USA
TEST00004	high	5.8	true	TP53	PAT1004	James	Carter	1955-05-12	male	Black	true	2022-10-05	TP53	TP53	true	c.818G>A (p.Arg273His)	likely pathogenic	true	true	PHY3017	Dr. Linda Brooks	Eastern Cancer Institute	Atlanta	GA	USA
TEST00005	moderate	2.6	true	blank	PAT1005	Harpreet	Singh	1990-07-19	female	South Asian	false	2023-02-14	PTEN	PTEN	false	blank	not detected	false	blank	PHY3045	Dr. Amit Patel	Northern Molecular Lab	Seattle	WA	USA
TEST00006	low	0.6	false	blank	PAT1006	Olivia	Brown	2002-06-01	female	White	false	2022-06-26	Other	ATM,CHEK2	false	blank	benign	false	blank	PHY3015	Dr. Steven Hall	Metro Genetics Center	Denver	CO	USA
TEST00007	high	8.2	true	BRCA2	PAT1007	Diana	Wilson	1987-02-13	female	White	true	2022-12-02	BRCA1/2	BRCA1,BRCA2	true	c.5946delT (p.Ser1982fs)	pathogenic	true	true	PHY3051	Dr. Emily Harris	Central Oncology Group	Dallas	TX	USA
TEST00008	low	1.1	false	blank	PAT1008	Robert	Johnson	1971-11-05	male	Black	false	2023-04-11	Lynch syndrome	MLH1,MSH2,MSH6,PMS2,EPCAM	false	blank	not detected	false	blank	PHY3058	Dr. Henry White	Western Genetics Clinic	Los Angeles	CA	USA
TEST00009	moderate	2.1	true	blank	PAT1009	Chen	Wang	1985-10-22	male	Asian	false	2022-11-15	TP53	TP53	false	blank	VUS	false	blank	PHY3061	Dr. Sarah Kim	Harborview Medical Genetics	Seattle	WA	USA
TEST00010	high	6.4	true	PTEN	PAT1010	Elena	Garcia	1994-04-08	female	Hispanic	false	2022-09-20	PTEN	PTEN	true	c.389G>A (p.Arg130Gln)	pathogenic	true	false	PHY3070	Dr. Luis Martinez	Southwest Cancer Genetics	Houston	TX	USA
TEST00011	moderate	2.9	true	blank	PAT1011	Anna	Petrov	1978-12-30	female	White	true	2023-03-03	Other	PALB2,CHEK2	false	blank	likely benign	false	blank	PHY3084	Dr. Michael Smith	North Genetics Institute	Minneapolis	MN	USA
TEST00012	low	1	false	blank	PAT1012	Mohammed	Ali	1982-09-11	male	Middle Eastern	false	2023-02-21	BRCA1/2	BRCA1,BRCA2	false	blank	benign	false	blank	PHY3092	Dr. Fatima Hassan	Bay Area Medical Genetics	San Jose	CA	USA
TEST00013	low	1.7	false	blank	PAT1013	Grace	Lee	1999-07-02	female	Asian	false	2022-07-18	Lynch syndrome	MSH2,MSH6,PMS2	false	blank	VUS	false	blank	PHY3106	Dr. Eric Chen	East Genetics Center	New York	NY	USA
TEST00014	high	6.9	true	TP53	PAT1014	Jacob	Smith	1976-03-21	male	White	false	2023-04-19	TP53	TP53	true	c.524G>T (p.Arg175Leu)	likely pathogenic	true	true	PHY3112	Dr. Adam Green	Great Lakes Cancer Genetics	Cleveland	OH	USA
TEST00015	moderate	1.8	true	blank	PAT1015	Ava	Robinson	1983-12-08	female	White	false	2022-08-17	BRCA1/2	BRCA1,BRCA2	false	blank	not detected	false	blank	PHY3124	Dr. Karen Young	Southern Oncology Center	Miami	FL	USA
TEST00016	high	7.7	true	PTEN	PAT1016	David	Martinez	1962-06-29	male	Hispanic	true	2022-10-29	PTEN	PTEN	true	c.422G>A (p.Arg141Gln)	pathogenic	true	false	PHY3137	Dr. Carlos Perez	Mountain Cancer Genetics	Denver	CO	USA
TEST00017	low	0.7	false	blank	PAT1017	Emily	Clark	1992-03-04	female	White	false	2022-09-10	Other	NBN,ATM	false	blank	benign	false	blank	PHY3143	Dr. Jason Lee	Urban Genetics Group	Boston	MA	USA
TEST00018	low	1.2	false	blank	PAT1018	Michael	Taylor	1996-06-16	male	White	false	2023-01-22	Lynch syndrome	EPCAM,PMS2	false	blank	not detected	false	blank	PHY3158	Dr. Susan Carter	Central Genetics Clinic	Indianapolis	IN	USA
TEST00019	high	9.1	true	BRCA1	PAT1019	Sandra	Evans	1979-01-26	female	Black	true	2022-12-18	BRCA1/2	BRCA1,BRCA2	true	c.5266dupC (p.Gln1756Profs)	pathogenic	true	false	PHY3162	Dr. Ashley Thomas	Southern Cancer Genetics	Charlotte	NC	USA
TEST00020	low	1.6	false	blank	PAT1020	William	Adams	1966-09-17	male	White	false	2023-02-03	TP53	TP53	false	blank	likely benign	false	blank	PHY3176	Dr. Nancy Williams	Western Genetics Center	Portland	OR	USA

What the 100 rows show

from the 100-row sample

High (risk assessment category) stands out: mean risk_assessment_score is 7.7, against 1.7 for the rest.

54%family_history_cancer = true
1.9median risk_assessment_score
3patient genders
4institution countries
5test types
6variant classifications

Mean risk_assessment_score by risk_assessment_category100 rows

risk_assessment_score100 rows, in bands of 1

Median 1.9, from 0.50 to 9.2.

variant_gene25 rows with a value · 75 left blank

BRCA27
BRCA15
TP534
MSH23
PTEN2
MSH62
PMS21
MLH11

26 columns by typefrom the column list below

string 18
float 1
date 2
boolean 5

Columns

26 columns in four groups

blueprint · 26 columns
column	type	description	example
Text 18 columns
`test_id`	string	Unique identifier for each genetic test performedunique	TEST00001
`patient_id`	string	Unique identifier for the patient undergoing testing	PAT1001
`patient_first_name`	string	Patient's first name	Jennifer
`patient_last_name`	string	Patient's last name	Miller
`patient_gender`	string	Patient's gendermale · female · other · unknown	female
`patient_ethnicity`	string	Patient's self-reported ethnicityoptional	White
`test_type`	string	Type of hereditary cancer syndrome test performedBRCA1/2 · Lynch syndrome · TP53 · PTEN · Other	BRCA1/2
`genes_tested`	string	Comma-separated list of genes tested in this panel	BRCA1,BRCA2
`variant_gene`	string	Gene in which the pathogenic variant was detected (if any)8 genes · optional	MSH2
`variant_description`	string	Description of the detected variant (HGVS nomenclature or similar)optional	c.942+3A>T
`variant_classification`	string	Classification of the variant (e.g., pathogenic, likely pathogenic, VUS, benign)6 values · optional	not detected
`risk_assessment_category`	string	Categorical risk assessment (e.g., high, moderate, low)high · moderate · low · unknown · optional	low
`referring_physician_id`	string	Unique identifier for the referring physicianoptional	PHY3001
`referring_physician_name`	string	Name of the referring physicianoptional	Dr. Rachel Ford
`institution_name`	string	Name of the institution where testing was performedoptional	Midwest Oncology Center
`institution_city`	string	City of the institutionoptional	Chicago
`institution_state`	string	State/province of the institutionoptional	IL
`institution_country`	string	Country of the institution4 countries · optional	USA
Numbers 1 column
`risk_assessment_score`	float	Quantitative risk assessment score for hereditary cancer (if available)0 or more · optional	1.3
Dates and times 2 columns
`patient_date_of_birth`	date	Patient's date of birth	1974-08-15
`test_date`	date	Date when the genetic test was performed	2022-09-13
True or false 5 columns
`family_history_cancer`	boolean	Indicates if the patient has a family history of cancer	true
`personal_history_cancer`	boolean	Indicates if the patient has a personal history of cancer	false
`pathogenic_variant_detected`	boolean	Indicates if a pathogenic variant was detected	false
`cascade_testing_recommended`	boolean	Indicates if cascade testing is recommended for family members	false
`cascade_testing_completed`	boolean	Indicates if cascade testing has been completed for family membersoptional	false

Use it for

A healthcare dashboard
The family_history_cancer rate, risk_assessment_score by risk_assessment_category and a breakdown of variant_gene. Excel, Power BI or Tableau.
Why do the 25 high rows have a mean risk_assessment_score of 7.7?
A root-cause class exercise
Hand out the rows and one question. The answer is in the data, not in the brief.
Tests100
TEST000011.3low
TEST000027.5high
TEST000030.9low
A software demo
Believable tests with patient_id, patient_first_name and patient_last_name to fill a screen in front of a buyer.

This dataset100 rows26 columns

Yours1,000 rows26 columnsinstitution_city: UK only

blueprint · hereditary-cancer-syndrome-testing

Behind this dataset

Same schema. As many rows as you need.

These 100 rows came out of a blueprint — 26 columns with generation rules behind each one. Open it in Data Factory to retune a column, add your own, wire in foreign keys, and run it at the size you actually need.

Rules it was built with

Test ID unique per individual
Genes tested: BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, TP53, PTEN, etc.
Indication: personal cancer history, family history, Ashkenazi ancestry
Pathogenic variant identified or negative
Variant of uncertain significance (VUS)
Cancer risk estimates for carriers
BRCA1/2: breast, ovarian, prostate, pancreatic cancer risk
Lynch syndrome: colorectal, endometrial, gastric, ovarian cancer risk

Rows1,000 rows10,000 rows100,000 rows1,000,000 rows

Open the blueprint in Data Factory

1 credit per row. Preview 20 rows free. Buy rows for the full run.

Exports: CSV, JSON, JSONL, Parquet, SQL, Excel, TSV, XML
Licence: yours to use, including commercially
API slug: hereditary-cancer-syndrome-testing

What should your data show?

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Sample rows

What the 100 rows show

Columns

Use it for

A healthcare dashboard

A root-cause class exercise

A software demo

Make it yours.

Same schema. As many rows as you need.

More in Healthcare

What should your data show?