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Gynecol Oncol. 2019 Jan;152(1):20-25. doi: 10.1016/j.ygyno.2018.10.019. Epub 2018 Oct 26.

Cancer susceptibility gene mutations in type I and II endometrial cancer.

Author information

1
Mayo Clinic, Division of Gynecologic Oncology, United States of America. Electronic address: beverly.long.11@gmail.com.
2
Mayo Clinic, Department of Epidemiology, United States of America.
3
Mayo Clinic, Department of Biostatistics, United States of America.
4
Mayo Clinic, Department of Pathology, United States of America.
5
Mayo Clinic, Department of Biomedical Statistics and Informatics, United States of America.
6
Mayo Clinic, Division of Gynecologic Oncology, United States of America.

Abstract

OBJECTIVES:

To determine the incidence of germline cancer predisposition gene mutations in patients with endometrial cancer (EC) subtypes.

METHODS:

Germline DNA was extracted from whole blood collected from consenting patients undergoing primary surgery for EC between 5/2005 and 11/2016. DNA samples were evaluated by product sequencing from a targeted multiplex PCR panel including 21 known/suspected cancer predisposition genes. Variants were classified as pathogenic/likely pathogenic based on allele frequency (<0.003), effects on protein function, and ClinVar assertions.

RESULTS:

Germline panel testing was performed on 1170 cases of EC; 849 (72.6%) were type I, and 321 (27.4%) were type II EC, including 135 (11.5%) uterine serous cancers (USC). BRCA1 mutations were enriched in Type II EC compared to Type I EC (0.93% vs. 0.12%, p = 0.07). Lynch Syndrome (LS) mutations were identified in 1.4% of type I and 1.6% of type II EC (p = 0.79), including 1.5% for USC. In total, predisposition gene mutations were present in 4.2% of type I and 5.3% of type II EC, as well as 6.7% of patients with USC).

CONCLUSIONS:

BRCA1/2 and Lynch mutations were rare in this cohort of unselected patients with type I and II EC, including USC. However, the presence of predisposition gene mutations in 4.2% of EC type I, 5.3% of EC type II, and 6.7% of USC suggests that somatic mutation testing should be considered for all EC patients.

PMID:
30612635
PMCID:
PMC6326093
[Available on 2020-01-01]
DOI:
10.1016/j.ygyno.2018.10.019

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