Endometrial adenosarcoma in the setting of a germline mutation: A case report.

• mutations play a significant role in gynecologic malignancy.• may be involved in the sarcomagenesis of endometrial adenosarcoma.•The knowledge of a genetic mutation can help clarify a patient's medical history.

Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.

Objective: Evaluate effects of a Lynch syndrome universal screening protocol in newly diagnosed endometrial cancers on subsequent genetic counseling (GC) and germline testing (GT) referral and acceptance rates.

Methods: We performed a retrospective cohort study of women who underwent a hysterectomy for endometrial cancer at Barnes Jewish Hospital in St. Louis, MO between 1/1/2011 and 12/31/2013 (n=637).

Underestimation of risk of a BRCA1 or BRCA2 mutation in women with high-grade serous ovarian cancer by BRCAPRO: a multi-institution study.

Purpose: Identification of the 10% to 15% of patients with ovarian cancer who have germline BRCA1 or BRCA2 mutations is important for management of both patients and relatives. The BRCAPRO model, which estimates mutation likelihood based on personal and family cancer history, can inform genetic testing decisions. This study's purpose was to assess the accuracy of BRCAPRO in women with ovarian cancer.

Timing of referral for genetic counseling and genetic testing in patients with ovarian, fallopian tube, or primary peritoneal carcinoma.

Objective: The objective of this study was to assess patients' preferences of the timing of referral for genetic counseling and testing in relation to the diagnosis, treatment, and recurrence of ovarian, tubal, or primary peritoneal cancers.

Methods: Ninety-two patients who underwent counseling and testing by 1 certified genetic counselor were identified. An introductory letter, consent form, and questionnaire were mailed to gather information regarding factors influencing the decision to undergo genetic counseling and testing and opinions regarding optimal timing.

Uterine serous carcinoma: increased familial risk for lynch-associated malignancies.

Serous uterine cancer is not a feature of any known hereditary cancer syndrome. This study evaluated familial risk of cancers for patients with serous uterine carcinoma, focusing on Lynch syndrome malignancies. Fifty serous or mixed serous endometrial carcinoma cases were prospectively enrolled.

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister's colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect.

Clustering of Lynch syndrome malignancies with no evidence for a role of DNA mismatch repair.

Objectives: We ascertained a large kindred with an excess of Lynch syndrome-associated cancers. Our objective was to determine if a defect in one of the DNA mismatch repair (DMMR) genes was the probable cause of cancer susceptibility as microsatellite instability (MSI) and immunohistochemical (IHC) analysis of the probands' tumors did not provide a clear indication.

Methods: A detailed history and review of medical records was undertaken to construct a four-generation pedigree.

Excess of early onset multiple myeloma in endometrial cancer probands and their relatives suggests common susceptibility.

Objective: Determine whether there is an association between uterine cancer and multiple myeloma.

Methods: Data on second malignancies were obtained for 368 uterine corpus cancer patients treated between 1992 and 2005. Detailed family histories were devised for 192 probands.

Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by inherited mutations in DNA mismatch-repair genes, most commonly MLH1 or MSH2. The role MSH6 plays in inherited cancer susceptibility is less well defined. The aim of this study was to investigate the penetrance and expressivity of MSH6 mutations in kindreds ascertained through endometrial cancer probands unselected for family history.

MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers.

Loss of DNA mismatch repair occurs in a variety of malignancies and is associated with genome-wide instability of microsatellite repeats, a molecular phenotype referred to as microsatellite instability (MSI). MSI is a consistent feature of colorectal and endometrial tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC). Sporadic colorectal and endometrial cancers that exhibit MSI frequently have methylation of the MLH1 promoter.

Evaluation of the family history collection process and the accuracy of cancer reporting among a series of women with endometrial cancer.

Unlabelled: Family history data are critical in the study of hereditary cancer syndromes and the identification of cancer modifier genes.

Purpose: The purpose of this study was to analyze the process for collecting and verifying reported cancer family histories and identify reporting inaccuracies among a series of women with endometrial cancer.

Experimental Design: Detailed family histories were obtained from 80 women enrolled in a research study.

Qualitative Evaluation of Medical Information Processing Needs of 60 Women Choosing Ovarian Cancer Surveillance or Prophylactic Oophorectomy.

Thirty women who had prophylactic oophorectomy (PO) and thirty women undergoing ovarian cancer surveillance (OCS) completed a one-time in-depth telephone interview exploring information gathering and decision-making processes. There were close similarities between groups, including age, race, marital status, education, menopausal status, number undergoing genetic testing for BRCA mutations, and number of prophylactic mastectomies. The majority of participants indicated overall satisfaction with their final decision.