Adult granulosa cell tumors of the ovary in two first-degree relatives

Stevens, Tobey A.; Brown, Jubilee; Zander, Dani S.; Bevers, Michael W.; Gershenson, David M.; Ramondetta, Lois M.

doi:10.1016/j.ygyno.2005.04.041

Cited by 7 publications

(5 citation statements)

References 3 publications

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“…Despite the fact that rare autosomal disorders are associated with the development of granulosa cell tumors, there is no known genetic predisposition that is specific for AGCT. To date, there has been only one reported case of a family in which both mother and daughter were diagnosed with a granulosa cell tumor [ 13 ]. This was seen as a coincidental finding and DNA analysis was not performed.…”

Section: Introductionmentioning

confidence: 99%

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

Roze

Kutzera

Koole

et al. 2021

Cancers

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Adult granulosa cell tumor (AGCT) is a rare ovarian cancer subtype, with a peak incidence around 50–55 years. Although AGCT can occur in specific syndromes, a genetic predisposition for AGCT has not been identified. The aim of this study is to identify a genetic variant in families with AGCT patients, potentially contributing to tumor evolution. We identified four families, each including two women diagnosed with AGCT. Whole-genome sequencing was performed to identify overlapping germline variants or affected genes. Familial relationship was evaluated using genealogy and genomic analyses. Patient characteristics, medical (family) history, and pedigrees were collected. Findings were compared to a reference group of 33 unrelated AGCT patients. Mean age at diagnosis was 38 years (range from 17 to 60) versus 51 years in the reference group, and seven of eight patients were premenopausal. In two families, three first degree relatives were diagnosed with breast cancer. Furthermore, polycystic ovary syndrome (PCOS) and subfertility was reported in three families. Predicted deleterious variants in PIK3C2G, BMP5, and LRP2 were identified. In conclusion, AGCTs occur in families and could potentially be hereditary. In these families, the age of AGCT diagnosis is lower and cases of breast cancer, PCOS, and subfertility are present. We could not identify an overlapping genetic variant or affected locus that may explain a genetic predisposition for AGCT.

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Section: Introductionmentioning

confidence: 99%

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

Roze

Kutzera

Koole

et al. 2021

Cancers

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“…There have been controversial reports on the effect of race . Sex cord–stromal tumours are not thought to have a hereditary component, although at least one case of adult GCT in first‐degree relatives has been reported …”

Section: Introductionmentioning

confidence: 99%

“…6,13 Sex cord-stromal tumours are not thought to have a hereditary component, although at least one case of adult GCT in first-degree relatives has been reported. 15 Occupation-related risks for ovarian cancer have seldom been studied. Evidence has shown a possible association between teaching occupations, 10 nursing, 16 occupations involving shift work, 17 exposure to silica dust, 18 and a risk for developing ovarian cancer.…”

Section: Introductionmentioning

confidence: 99%

Incidence and occupational variation of ovarian granulosa cell tumours in Finland, Iceland, Norway and Sweden during 1953–2012: a longitudinal cohort study

Bryk

Pukkala

Martinsen

et al. 2016

BJOG

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Objective To determine the incidence and occupational variation of granulosa cell tumours (GCTs) in Finland, Iceland, Norway and Sweden over a 60-year period, 1953-2012. Design A longitudinal cohort study.Setting and population Finland, Iceland, Norway and Sweden and a total of 249 million women over a 60-year period . The NOCCA (Nordic Occupational Cancer Study) included 6.4 million women with 776 incident GCT cases diagnosed until the end of follow up.Methods Incidence rates were calculated from the national cancer registries and compared using quasi-Poisson regression models. Occupation-specific standardised incidence ratios (SIRs) were calculated from the Nordic Occupational Cancer (NOCCA) database.Main outcome measures Incidence rates and standardised incidence ratios.Results The age-adjusted (World Standard) incidence rates remained quite constant: about 0.6-0.8 per 100 000 for most of the study period. The age-specific incidence was highest at 50-64 years of age. There were no occupations with significantly increased risk of GCT. Major changes in the use of oral contraceptives, postmenopausal hormonal therapy, fertility rate and lifestyle in general during the study period and among different occupational categories do not appear to have a marked effect on the incidence of GCT.Conclusion Our findings support the concept of GCT as a primarily sporadic, not exposure-related, cancer.Keywords Epidemiology, granulosa cell tumour, incidence, Nordic, occupational.Tweetable abstract The Nordic incidence rates of GCTs show stability over time and among different occupational categories.

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“…One case has been reported of an adult granulosa cell tumor in two first-degree relatives, which was seen as a coincidental finding. 195 Although syndromes associated with sex cord-stromal tumors exist, a known inherited predisposition for the development of granulosa cell tumors has not yet been detected.…”

Section: Granulosa Cell Tumors Can Occur In Families and May Be Assoc...mentioning

confidence: 99%

“…To date, there has been only one reported case of a family in which both mother and daughter were diagnosed with a granulosa cell tumor. 195 This was seen as a coincidental finding and DNA analysis was not performed. We identified four different families in which two relatives were diagnosed with a granulosa cell tumor.…”

Section: Introductionmentioning

confidence: 99%

Precision medicine for granulosa cell tumors of the ovary

Roze¹

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Adult granulosa cell tumors of the ovary in two first-degree relatives

Cited by 7 publications

References 3 publications

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

Incidence and occupational variation of ovarian granulosa cell tumours in Finland, Iceland, Norway and Sweden during 1953–2012: a longitudinal cohort study

Precision medicine for granulosa cell tumors of the ovary

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