scholarly journals Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report

2018 ◽  
Author(s):  
Takashi Takeda ◽  
Kouji Banno ◽  
Megumi Yanokura ◽  
Mayuka Anko ◽  
Arata Kobayashi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Germline Mutation

scholarly journals PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Xiaoqing Guo ◽  
Weimin Wu ◽  
Hao Gao ◽  
Xiaofeng Li ◽  
Qizhi He ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lynch Syndrome ◽  
Germline Mutation

scholarly journals Identifying Lynch Syndrome in Two Families with Classical Hereditary Breast and Ovarian Cancer Syndrome Phenotype: A Case Report

2018 ◽  
Vol 10 (9) ◽  
Author(s):  
Salha Bujassoum ◽  
Reem Alsulaiman ◽  
Hind Elmalik ◽  
Kulssom Junejo ◽  
Ahmed Mahfouz ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer

Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report

2016 ◽  
Vol 43 (2) ◽  
pp. 416-420 ◽  
Author(s):  
Masataka Adachi ◽  
Kouji Banno ◽  
Kenta Masuda ◽  
Megumi Yanokura ◽  
Moito Iijima ◽  
...  
Keyword(s):  
Case Report ◽  
Lynch Syndrome ◽  
Germline Mutation ◽  
Lower Uterine Segment

Case report of a rare variant of BRCA2 germline mutation in an ovarian cancer patient

2020 ◽  
Vol 18 (4) ◽  
Author(s):  
Sudha S. Murthy ◽  
Vaishnavi Kunteepuram ◽  
Krishna Mohan Mallavarapu ◽  
T. Nageswara Rao ◽  
B. Vishal Rao ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Cancer Patient ◽  
Rare Variant ◽  
Germline Mutation ◽  
Ovarian Cancer Patient

Monozygotic Twins with Ovarian Cancer Carrying a Pathogenic BRCA1 Germline Mutation: a Case Report

2020 ◽  
Vol 2 (7) ◽  
pp. 1012-1015
Author(s):  
Takuya Yokoe ◽  
Katsuhiko Yasuda ◽  
Tomoo Yoshimura ◽  
Aoi Hattori ◽  
Tomomi Mizokami ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Germline Mutation ◽  
Monozygotic Twins

Women With Synchronous Primary Cancers of the Endometrium and Ovary: Do They Have Lynch Syndrome?

2005 ◽  
Vol 23 (36) ◽  
pp. 9344-9350 ◽  
Author(s):  
Pamela T. Soliman ◽  
Russell R. Broaddus ◽  
Kathleen M. Schmeler ◽  
Molly S. Daniels ◽  
Delia Gonzalez ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Lynch Syndrome ◽  
Germline Mutation ◽  
Risk Groups ◽  
Prior History ◽  
Degree Relative ◽  
Cancer Predisposition Syndrome ◽  
Amsterdam Criteria ◽  
Medium Risk

Purpose Lynch syndrome (hereditary nonpolyposis colorectal cancer; HNPCC) is an autosomal-dominant cancer predisposition syndrome that increases risk for multiple cancers, including colon, endometrial, and ovarian cancer. Revised Bethesda Criteria recommend that patients with two HNPCC-associated cancers undergo molecular evaluation to determine whether they have a mismatch repair (MMR) defect associated with HNPCC. The purpose of our study was to determine the likelihood of MMR defects (MSH2, MSH6, MLH1) in women with synchronous endometrial and ovarian cancer. Patients and Methods Between 1989 and 2004, 102 women with synchronous endometrial and ovarian cancers were identified; 59 patients had tumor blocks available for analysis. Patients were divided into risk groups based on family history: high (met Amsterdam criteria), medium (personal history or first-degree relative with an HNPCC-associated cancer), and low (all others). Protein expression for MSH2, MSH6, and MLH1 was evaluated by immunohistochemistry. Microsatellite instability and MLH1 promoter methylation analyses were performed on a subset of cases. Results Median age was 50 years. Two patients met Amsterdam criteria for HNPCC. Five additional patients, all medium-risk, had molecular findings consistent with a germline mutation of either MSH2 or MLH1. None of the low-risk patients had molecular results consistent with a germline mutation. Conclusion Overall, 7% of women in our cohort met either clinical or molecular criteria for Lynch syndrome. All of these women had a prior history or a first-degree relative with an HNPCC-associated cancer. Limiting genetic evaluation to women with synchronous endometrial and ovarian cancer who have a family history suggestive of HNPCC may appropriately identify women with Lynch syndrome.

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