Benign neoplasm: Rectum, anus and anal canal

CD2_BENIGN_RECTUM_ANAL

rectum cancer: A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

None

0 out of 7 registries used, show all original rules.

0

4. Check minimum number of events

None

0

5. Include endpoints

7152

6. Filter based on genotype QC (FinnGen only)

6913

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2

Similar endpoints

List of similar endpoints to Benign neoplasm: Rectum, anus and anal canal based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 46435 23043 23086
Only index persons 41450 21048 20402
Unadjusted period prevalence (%)
Whole population 0.65 0.66 0.65
Only index persons 0.78 0.77 0.78
Median age at first event (years)
Whole population 65.74 65.69 65.75
Only index persons 65.19 65.09 65.30

-FinnGen-

Key figures

All Female Male
Number of individuals 6913 3287 3626
Unadjusted period prevalence (%) 1.57 1.29 1.82
Median age at first event (years) 65.16 63.46 66.69

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

Association

Association between endpoint CD2_BENIGN_RECTUM_ANAL and mortality.

Females

Parameter HR [95% CI] p-value
CD2_BENIGN_RECTUM_ANAL 1.132 [1.04, 1.23] 0.005
Birth year 0.996 [0.99, 1.0] 0.264

During the follow-up period (1.1.1998 — 31.12.2019), 3757 out of 17553 females with CD2_BENIGN_RECTUM_ANAL died.

Males

Parameter HR [95% CI] p-value
CD2_BENIGN_RECTUM_ANAL 1.235 [1.13, 1.35] < 0.001
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 4969 out of 17500 males with CD2_BENIGN_RECTUM_ANAL died.

Mortality risk

Mortality risk for people of age

years, who have CD2_BENIGN_RECTUM_ANAL.

N-year risk Females Males
1 0.127% 0.226%
5 0.703% 1.476%
10 1.868% 3.671%
15 3.512% 6.876%
20 5.84% 11.146%

Relationships between endpoints

Index endpoint: CD2_BENIGN_RECTUM_ANAL – Benign neoplasm: Rectum, anus and anal canal

GWS hits: 5

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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