Reproductive endocrinology

Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency

J Clin Endocrinol MetabPublished Population-based case-control study

Main finding · Breast cancer in women with POIResult — go to the resultOdds ratio 2.20 95% CI 1.30–3.47

Authors' conclusion

Data suggest common genetic risk for POI and reproductive cancers. Tools are needed to predict cancer risk in women with POI and potentially to counsel about risks of hormone replacement therapy.

Study context

Population
Women with primary ovarian insufficiency (POI) and their relatives, two major Utah academic health care systems serving 85% of the statewomen with POI
Participants
613 women
Comparison
Cancer risk in women with POI and their relatives vs population rates
  • POIn = 613
Outcome
Relative risk of cancer in women with POI and relatives vs population rates
Methodological detailsrecords 1995–2022, linked to Utah Population Database and Utah Cancer Registry, whole genome sequencing in a subset
  • Records 1995–2022
  • Linked to Utah Population Database and Utah Cancer Registry
  • Whole genome sequencing in a subset

Main finding

Breast cancer in women with POI

Odds ratio

2.20

95% CI 1.30–3.47

P = 0.0023

POIvs Population rates
OR 2.20 (95% CI 1.30–3.47); P = 0.0023

As reported in the abstract

Observational data: associations, not effects.

Further findings

OutcomeOR (95% CI)P value
Breast cancer in second-degree relativesSecond-degree relativesvs Population rates1.28 (1.08–1.52)P = 0.0078
Colon cancer in second-degree relativesSecond-degree relativesvs Population rates1.50 (1.14–1.94)P = 0.0036
Prostate cancer in relativesFirst-degree relativesvs Population rates1.64 (1.18–2.23)P = 0.0026
Prostate cancer in relativesSecond-degree relativesvs Population rates1.54 (1.32–1.79)P < 0.001
Prostate cancer in relativesThird-degree relativesvs Population rates1.33 (1.20–1.48)P < 0.001

Age at diagnosis in probands with POI

Age at POI diagnosis
36.5 ± 4.3 years
Age at cancer diagnosis
59.5 ± 12.7 years

Genetics

Causal and candidate gene variants for cancer and POI were identified

Original publication

Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency. J Clin Endocrinol Metab. Published 12 July 2024. doi:10.1210/clinem/dgae480

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