BGPT: Meta-analysis: What is the reported prevalence of mosaic loss of chromosome Y across different human tissues and cancer types?

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Reported mLOY prevalence varies strongly by tissue/source and treatment: in blood-derived BioBank Japan data, prevalence ranged from 1.08% (gastric cancer) to 2.14% (prostate cancer), rising to ~21–22% in prostate/lung cancer patients exposed to radiotherapy, while prostate cancer patients overall showed 8.0% (13.7% with radiotherapy vs 4.0% without) . Saliva-derived mLOY is far rarer in younger cohorts (0.44–0.50% between smokers and never-smokers) .

Long Analysis Plan

Reported mLOY prevalence across tissues and cancer types

The supplied evidence contains directly comparable prevalence figures from one large study: 348 prostate cancer patients at Juntendo University Hospital (blood-derived, SNP-array mLRR-Y) and ~30,000 BioBank Japan patients across four cancer types . A separate saliva study shows tissue of origin matters: saliva-derived mLOY prevalence was 0.50% (never-smokers) vs 0.44% (current smokers), with only 96 mLOY-positive subjects because most participants were below ages where mLOY is frequent — inconsistent with ~3-fold smoking effects reported for blood-derived mLOY .

Critical caveats: (1) Thresholds for defining mLOY differ across datasets (e.g., mLRR-Y ≤ -0.15 in saliva), inflating cross-study heterogeneity ; (2) the radiotherapy association is observational (OR 2.55, 95% CI 1.08–6.50, P=0.04) and vulnerable to confounding and reverse causation; (3) the eLife cardiovascular study of 446 patients reported mLOY prevalence but did not supply comparable extracted prevalence values, so no independent blood estimate from that source can be plotted . What would change these conclusions: age-stratified prevalence tables, harmonized mLOY thresholds, and non-cancer male controls are missing from the supplied records; a sufficiently powered replication showing no radiotherapy–mLOY association would falsify the OR 2.55 finding.

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Updated: September 13, 2026

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1. This study investigates the association between local radiotherapy and mosaic loss of chromosome Y (mLOY) in cancer patients, finding that radiotherapy significantly increases the prevalence of mLOY, which may indicate a vulnerability to DNA damage in certain cancer patients. [2025]

8QualityResults Limitations Context Blindspots Methods Sample Conflict Data

↗ Paper Review ↗ Full Paper

2. This study evaluates the prevalence and impact of clonal hematopoiesis and mosaic loss of the Y chromosome on cardiovascular risk in patients with a history of myocardial infarction, finding no significant association with increased cardiovascular events despite high prevalence rates. [2024]

7QualityResults Limitations Context Blindspots Methods Sample

↗ Paper Review ↗ Full Paper

3. Using short-read sequencing mapped to a canine Y-chromosome reference, this study defines Y-chromosome haplogroups in 118 canids, reveals deep Y-chromosome splits and distinct Neolithic European dog lineages, and provides divergence-time estimates and ancestry relationships across modern and ancient samples. [2018]

9QualityResults Limitations Context Blindspots Methods Sample Conflict Data

↗ Paper Review ↗ Full Paper

4. This study investigates the effects of the SHR Y-chromosome on testosterone levels, aggression, and serotonin levels in a rat model, revealing that the SHR Y-chromosome increases testosterone and aggression while decreasing serotonin compared to the WKY Y-chromosome. [2004]

7QualityResults Limitations Context Blindspots Methods Sample Conflict

↗ Paper Review ↗ Full Paper

5. This study evaluated whether saliva-derived mosaic loss of chromosome Y (mLOY) can be detected and used for association studies, finding associations with aging and physical activity but not smoking, and validating a threshold against experimental noise. [2021]

6QualityResults Limitations Blindspots Methods Sample Conflict Data

↗ Paper Review ↗ Full Paper

Key Insight

mLOY prevalence is not an intrinsic property of a tissue but of the detection method, age distribution, and mutagenic exposures (e.g., radiotherapy multiplies prevalence ~5–10x), so any cross-tissue comparison without harmonized thresholds and age adjustment is largely confounded.

Keep Exploring

Does mLOY prevalence in prostate cancer patients without radiotherapy differ from age-matched cancer-free men in the BioBank Japan cohort?

What clone fraction thresholds (mLRR-Y cutoffs) most strongly affect reported mLOY prevalence estimates across tissues?

Does time since radiotherapy exposure predict mLOY prevalence in longitudinal blood samples of prostate cancer patients?

Analysis Wizard

Building a random-effects meta-analysis pooling reported mLOY prevalences across BioBank Japan cancer types, computing heterogeneity (I²) and forest plots from the extracted quantitative values.

Hypothesis Graveyard

mLOY prevalence differences between cancer types reflect cancer biology per se — unlikely: cancer-type differences (1.08–2.14%) collapse once radiotherapy exposure is stratified out, implicating treatment rather than tumor type.

Saliva mLOY is discordant with blood because saliva captures a different clone — unsupported: modest power (42%) and few older subjects mean the smoking null result is likely underpowered rather than a true tissue difference.

Potential Experiments

Longitudinal SNP-array mLRR-Y measurement pre- and post-radiotherapy (0, 6, 24 months) in matched prostate cancer patients with non-irradiated surgical controls, directly separating radiation effect from age drift.

Cross-tissue sampling (blood, saliva, buccal) from the same mLOY-positive individuals with targeted ddPCR quantification of clone fractions, testing whether blood and epithelial mLOY clones are concordant.

Science Art

Science Movie

Make a narrated HD Science movie for this answer ($32 per minute)

Discussion

BGPT Bias

My training data over-represents large cohort studies like UK Biobank and BioBank Japan, potentially over-weighting blood-derived mLOY estimates relative to under-sampled tissue-specific data.

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Ask questions across claims linked to experiments, exact results, limitations, and sources.Know what the science actually supports before you trust the answer.

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Quick Analysis Plan Copied

Long Analysis Plan

Reported mLOY prevalence across tissues and cancer types

Top Data Sources Export MCP

1. This study investigates the association between local radiotherapy and mosaic loss of chromosome Y (mLOY) in cancer patients, finding that radiotherapy significantly increases the prevalence of mLOY, which may indicate a vulnerability to DNA damage in certain cancer patients. [2025]

2. This study evaluates the prevalence and impact of clonal hematopoiesis and mosaic loss of the Y chromosome on cardiovascular risk in patients with a history of myocardial infarction, finding no significant association with increased cardiovascular events despite high prevalence rates. [2024]

4. This study investigates the effects of the SHR Y-chromosome on testosterone levels, aggression, and serotonin levels in a rat model, revealing that the SHR Y-chromosome increases testosterone and aggression while decreasing serotonin compared to the WKY Y-chromosome. [2004]

5. This study evaluated whether saliva-derived mosaic loss of chromosome Y (mLOY) can be detected and used for association studies, finding associations with aging and physical activity but not smoking, and validating a threshold against experimental noise. [2021]

6. This study investigates the emergence and stabilization of a neo-Y chromosome in Mesorhabditis nematodes, revealing its association with a unique reproductive mode called autopseudogamy, where males are rare and genetically 'useless' except for their Y chromosome. [2025]

7. This study presents the construction of a Y-chromosomal ancestral-like reference sequence (Y-ARS) to enhance the detection of evolutionarily informative variants on the Y chromosome, addressing the limitations of current reference sequences that are evolutionarily young. [2025]

8. This study identifies an extremely ancient Y chromosome lineage (A00) in an African American individual, suggesting a TMRCA of 338,000 years, which challenges existing models of human Y chromosome diversity and origins. [2013]

9. This study investigates the temporal dynamics of Y chromosome degeneration, highlighting the varying roles of Muller's ratchet, background selection, and genetic hitchhiking throughout the evolutionary history of Y chromosomes. [2008]

Ask a Follow-Up

Key Insight

mLOY prevalence is not an intrinsic property of a tissue but of the detection method, age distribution, and mutagenic exposures (e.g., radiotherapy multiplies prevalence ~5–10x), so any cross-tissue comparison without harmonized thresholds and age adjustment is largely confounded.

Keep Exploring

Does mLOY prevalence in prostate cancer patients without radiotherapy differ from age-matched cancer-free men in the BioBank Japan cohort?

What clone fraction thresholds (mLRR-Y cutoffs) most strongly affect reported mLOY prevalence estimates across tissues?

Does time since radiotherapy exposure predict mLOY prevalence in longitudinal blood samples of prostate cancer patients?

Analysis Wizard

Building a random-effects meta-analysis pooling reported mLOY prevalences across BioBank Japan cancer types, computing heterogeneity (I²) and forest plots from the extracted quantitative values.

Hypothesis Graveyard

mLOY prevalence differences between cancer types reflect cancer biology per se — unlikely: cancer-type differences (1.08–2.14%) collapse once radiotherapy exposure is stratified out, implicating treatment rather than tumor type.

Saliva mLOY is discordant with blood because saliva captures a different clone — unsupported: modest power (42%) and few older subjects mean the smoking null result is likely underpowered rather than a true tissue difference.

Potential Experiments

Longitudinal SNP-array mLRR-Y measurement pre- and post-radiotherapy (0, 6, 24 months) in matched prostate cancer patients with non-irradiated surgical controls, directly separating radiation effect from age drift.

Cross-tissue sampling (blood, saliva, buccal) from the same mLOY-positive individuals with targeted ddPCR quantification of clone fractions, testing whether blood and epithelial mLOY clones are concordant.

Science Art

Science Movie

Make a narrated HD Science movie for this answer ($32 per minute)

Discussion

BGPT Bias

My training data over-represents large cohort studies like UK Biobank and BioBank Japan, potentially over-weighting blood-derived mLOY estimates relative to under-sampled tissue-specific data.

Stay current without chasing every paper.

My BGPT

Trending

The Evidence Layer for Scientific AI

Ask questions across claims linked to experiments, exact results, limitations, and sources.Know what the science actually supports before you trust the answer.

Explore by Goal

Quick Analysis Plan Copied

Long Analysis Plan

Reported mLOY prevalence across tissues and cancer types

Top Data Sources ExportMCP

1. This study investigates the association between local radiotherapy and mosaic loss of chromosome Y (mLOY) in cancer patients, finding that radiotherapy significantly increases the prevalence of mLOY, which may indicate a vulnerability to DNA damage in certain cancer patients. [2025]

2. This study evaluates the prevalence and impact of clonal hematopoiesis and mosaic loss of the Y chromosome on cardiovascular risk in patients with a history of myocardial infarction, finding no significant association with increased cardiovascular events despite high prevalence rates. [2024]

4. This study investigates the effects of the SHR Y-chromosome on testosterone levels, aggression, and serotonin levels in a rat model, revealing that the SHR Y-chromosome increases testosterone and aggression while decreasing serotonin compared to the WKY Y-chromosome. [2004]

5. This study evaluated whether saliva-derived mosaic loss of chromosome Y (mLOY) can be detected and used for association studies, finding associations with aging and physical activity but not smoking, and validating a threshold against experimental noise. [2021]

6. This study investigates the emergence and stabilization of a neo-Y chromosome in Mesorhabditis nematodes, revealing its association with a unique reproductive mode called autopseudogamy, where males are rare and genetically 'useless' except for their Y chromosome. [2025]

7. This study presents the construction of a Y-chromosomal ancestral-like reference sequence (Y-ARS) to enhance the detection of evolutionarily informative variants on the Y chromosome, addressing the limitations of current reference sequences that are evolutionarily young. [2025]

8. This study identifies an extremely ancient Y chromosome lineage (A00) in an African American individual, suggesting a TMRCA of 338,000 years, which challenges existing models of human Y chromosome diversity and origins. [2013]

9. This study investigates the temporal dynamics of Y chromosome degeneration, highlighting the varying roles of Muller's ratchet, background selection, and genetic hitchhiking throughout the evolutionary history of Y chromosomes. [2008]

Ask a Follow-Up

Key Insight

mLOY prevalence is not an intrinsic property of a tissue but of the detection method, age distribution, and mutagenic exposures (e.g., radiotherapy multiplies prevalence ~5–10x), so any cross-tissue comparison without harmonized thresholds and age adjustment is largely confounded.

Keep Exploring

Does mLOY prevalence in prostate cancer patients without radiotherapy differ from age-matched cancer-free men in the BioBank Japan cohort?

What clone fraction thresholds (mLRR-Y cutoffs) most strongly affect reported mLOY prevalence estimates across tissues?

Does time since radiotherapy exposure predict mLOY prevalence in longitudinal blood samples of prostate cancer patients?

Analysis Wizard

Building a random-effects meta-analysis pooling reported mLOY prevalences across BioBank Japan cancer types, computing heterogeneity (I²) and forest plots from the extracted quantitative values.

Hypothesis Graveyard

mLOY prevalence differences between cancer types reflect cancer biology per se — unlikely: cancer-type differences (1.08–2.14%) collapse once radiotherapy exposure is stratified out, implicating treatment rather than tumor type.

Saliva mLOY is discordant with blood because saliva captures a different clone — unsupported: modest power (42%) and few older subjects mean the smoking null result is likely underpowered rather than a true tissue difference.

Potential Experiments

Longitudinal SNP-array mLRR-Y measurement pre- and post-radiotherapy (0, 6, 24 months) in matched prostate cancer patients with non-irradiated surgical controls, directly separating radiation effect from age drift.

Cross-tissue sampling (blood, saliva, buccal) from the same mLOY-positive individuals with targeted ddPCR quantification of clone fractions, testing whether blood and epithelial mLOY clones are concordant.

Science Art

Science Movie

Make a narrated HD Science movie for this answer ($32 per minute)

Discussion

BGPT Bias

My training data over-represents large cohort studies like UK Biobank and BioBank Japan, potentially over-weighting blood-derived mLOY estimates relative to under-sampled tissue-specific data.

Stay current without chasing every paper.

My BGPT

Trending

Top Data Sources Export MCP