Ovarian and Endometrial Cancer in Patients with Hereditary Non-polyposis Colorectal Cancer Syndrome

2009 ◽  
pp. 163-181
Author(s):  
Kimberly Resnick ◽  
David Cohn
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Cancer Syndrome

scholarly journals Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome

2006 ◽  
Vol 120 (4) ◽  
pp. 821-824 ◽  
Author(s):  
Laura Renkonen-Sinisalo ◽  
Ralf Bützow ◽  
Arto Leminen ◽  
Pentti Lehtovirta ◽  
Jukka-Pekka Mecklin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Cancer Syndrome ◽  
Hereditary Nonpolyposis

The detection of microsatellite instability in blind endometrial samples—a potential novel screening tool for endometrial cancer in women from hereditary nonpolyposis colorectal cancer families?

2006 ◽  
Vol 16 (3) ◽  
pp. 1393-1400
Author(s):  
M. J. Hewitt ◽  
N. Wood ◽  
N. D. Quinton ◽  
R. Charlton ◽  
G. Taylor ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Microsatellite Instability ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Screening Tool ◽  
Endometrial Biopsy ◽  
Cancer Syndrome ◽  
Normal Endometrium ◽  
Increased Risk ◽  
Hereditary Nonpolyposis

Microsatellite instability (MSI) is the phenotypic molecular characteristic of the majority of tumors associated with the hereditary nonpolyposis colorectal cancer syndrome (HNPCC). Women in this group have an increased risk of endometrial cancer (EC). This study aimed to determine whether MSI could be demonstrated in blind endometrial samples from women with EC, HNPCC kindreds undergoing screening for EC, and women with normal endometrium. Twenty-four women with EC, 20 women from HNPCC kindreds, and 20 women undergoing gynecological surgery for benign indications underwent blind sampling. MSI analysis was performed by conventional polymerase chain reaction using fluorescent-labeled primers and automated analysis. Twelve microsatellites were studied with MSI defined as evident when novel alleles were seen in endometrial biopsy samples compared to genomic DNA. Of the 24 EC samples obtained, sufficient DNA for analysis was extracted in 17 cases. Three cases had evidence of MSI in at least 7/12 loci. None of the endometrium from the two other study groups revealed evidence of MSI. This is the first demonstration of MSI in blind endometrial biopsies. The ability to demonstrate MSI in heterogenous endometrial samples suggests potential for the development of a novel EC screening tool for women in HNPCC kindreds.

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

scholarly journals Uterine serous carcinoma: key advances and novel treatment approaches

2021 ◽  
pp. ijgc-2021-002753
Author(s):  
J Stuart Ferriss ◽  
Britt K Erickson ◽  
Ie-Ming Shih ◽  
Amanda N Fader
Keyword(s):  
Endometrial Cancer ◽  
Black Women ◽  
Treatment Options ◽  
Molecular Genetic ◽  
Serous Carcinoma ◽  
Cancer Syndrome ◽  
Her2 Positive ◽  
Incidence And Mortality ◽  
History Of ◽  
Uterine Serous Carcinoma

The incidence and mortality rates from endometrial cancer continue to increase worldwide, while rates in most other cancers have either plateaued or declined considerably. Uterine serous carcinoma represents a fraction of all endometrial malignancies each year, yet this histology is responsible for nearly 40% of all endometrial cancer-related deaths. These deaths disproportionately affect black women, who have higher rates of advanced disease at diagnosis. Molecular genetic analyses reveal major alterations including TP53 mutation, PIK3CA mutation/amplification, ERBB2 amplification, CCNE1 amplification, FBXW7 mutation/deletion, PPP2R1A mutation, and somatic mutations involving homologous recombination genes. Clinical risk factors for uterine serous carcinoma include advancing age, a history of breast cancer, tamoxifen usage, and the hereditary breast–ovarian cancer syndrome. Surgery remains the cornerstone of treatment. Recent advances in our understanding of uterine serous carcinoma molecular drivers have led to development of targeted therapeutics that promise improved outcomes for patients. Overexpression or amplification of HER2 in uterine serous carcinoma carries a poor prognosis; yet this actionable target has led to the incorporation of several anti-HER2 therapies, including trastuzumab which, when added to conventional chemotherapy, is associated with improved survival for women with advanced and recurrent HER2-positive disease. The combination of pembrolizumab and lenvatinib is also a promising targeted treatment strategy for women with uterine serous carcinoma, with a recent phase II study suggesting a 50% response rate in women with recurrent disease. Several trials examining additional targeted agents are ongoing. Despite years of stalled progress, meaningful, tailored treatment options are emerging for patients with this uncommon and biologically aggressive endometrial cancer subtype.

T2033 Colorectal Cancer Screening in Women with Endometrial Cancer: Are We Following the Guidelines?

2009 ◽  
Vol 136 (5) ◽  
pp. A-624
Author(s):  
Marvin Singh ◽  
Emily Singh ◽  
Heather Miller ◽  
Williamson Strum ◽  
Walter Coyle
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Cancer Screening ◽  
Colorectal Cancer Screening

scholarly journals Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

2007 ◽  
Vol 122 (5) ◽  
pp. 1077-1081 ◽  
Author(s):  
Sang Nam Yoon ◽  
Ja-Lok Ku ◽  
Young-Kyoung Shin ◽  
Kyung-Hee Kim ◽  
Jin-Sung Choi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

Contribution of Ultrasonography to Endometrial Cancer Screening in Patients With Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome

2010 ◽  
Vol 20 (4) ◽  
pp. 583-587 ◽  
Author(s):  
Fabrice Lécuru ◽  
Cyrille Huchon ◽  
Ulrike Metzger ◽  
Anne Sophie Bats ◽  
Marie Aude Le Frère Belda ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Cancer Screening ◽  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

scholarly journals Epidemiology Study for Cancer Incidences among Patients from Baghdad Carrying Different Types of Cancer.

2018 ◽  
Vol 9 (SPL1) ◽  
Author(s):  
Dawood Salim Edan ◽  
HamedH Khamees
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Bladder Cancer ◽  
Endometrial Cancer ◽  
Cancer Colorectal ◽  
Cancer Epidemiology ◽  
The Other ◽  
Epidemiology Study ◽  
Different Types ◽  
Prevalence Of Cancer

This study was carried out in Al-Yarmook hospital,laboratories department,Baghdad- Iraq; One hundred thirty three Iraqi patients have been recorded during period May 2014 until December 2014.The current study has demonstrated that five different types of the following cancers: Breast cancer,Skin cancer,colorectal cancer,Bladder cancer and endometrial cancer were enrolled in this study. Comparison among each type of cancer was regarded in age, sex and number. The majority results in cancer epidemiology for the present study were fluctuated between the skin and breast cancer,which showed 33.1% and this,represented the prevalence of cancer among all the other types of cancers. In case of other types,the result has showed 16.5 %,13.5% and 3.7 % for endometrial cancer,Bladder cancer and colorectal cancer,respectively.

scholarly journals Hereditary non-polyposis colorectal cancer syndrome: an analysis of 13 pedigrees

2004 ◽  
Vol 13 (2) ◽  
pp. 180
Author(s):  
Da Wang ◽  
Ying-Wei Xue ◽  
Xian-Jun Zhou ◽  
Feng Qiao ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Syndrome
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