Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer
Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endom...
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MDPI AG
2023-10-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/11/1999 |
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| author | Jennifer Thalita Targino dos Santos Reginaldo Cruz Alves Rosa Alison Luis Eburneo Pereira Alan Vinicius Assunção-Luiz Bruna Tavares Bacalá Victor Evangelista de Faria Ferraz Milena Flória |
| author_facet | Jennifer Thalita Targino dos Santos Reginaldo Cruz Alves Rosa Alison Luis Eburneo Pereira Alan Vinicius Assunção-Luiz Bruna Tavares Bacalá Victor Evangelista de Faria Ferraz Milena Flória |
| author_sort | Jennifer Thalita Targino dos Santos |
| collection | DOAJ |
| description | Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone. The final sample comprised 42 women who responded to the Primary Screening Questionnaire. Their family pedigrees were drawn and categorized according to internationally standardized criteria for the risk of HNS. Results showed that 26 women (61%) were found to be at risk for HNS, with Bethesda criteria being met by 23%, Amsterdam criteria by 15%, and 4% met the attenuated familial adenomatous polyposis criteria. Our results emphasize the importance of FH and the need to encourage healthcare professionals to collect and document FH more frequently, even if it is self-reported. By identifying individuals with HNS, we can improve their outcomes and reduce the burden of cancer in families with a predisposition to cancer. |
| first_indexed | 2024-03-09T16:47:53Z |
| format | Article |
| id | doaj.art-6836d64ba0674851b0bca3a2993e97ed |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T16:47:53Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-6836d64ba0674851b0bca3a2993e97ed2023-11-24T14:43:38ZengMDPI AGGenes2073-44252023-10-011411199910.3390/genes14111999Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial CancerJennifer Thalita Targino dos Santos0Reginaldo Cruz Alves Rosa1Alison Luis Eburneo Pereira2Alan Vinicius Assunção-Luiz3Bruna Tavares Bacalá4Victor Evangelista de Faria Ferraz5Milena Flória6Ribeirão Preto College of Nursing, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilRibeirão Preto College of Nursing, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilRibeirão Preto College of Nursing, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilRibeirão Preto College of Nursing, University of São Paulo, Ribeirão Preto 14040-901, SP, BrazilEndometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone. The final sample comprised 42 women who responded to the Primary Screening Questionnaire. Their family pedigrees were drawn and categorized according to internationally standardized criteria for the risk of HNS. Results showed that 26 women (61%) were found to be at risk for HNS, with Bethesda criteria being met by 23%, Amsterdam criteria by 15%, and 4% met the attenuated familial adenomatous polyposis criteria. Our results emphasize the importance of FH and the need to encourage healthcare professionals to collect and document FH more frequently, even if it is self-reported. By identifying individuals with HNS, we can improve their outcomes and reduce the burden of cancer in families with a predisposition to cancer.https://www.mdpi.com/2073-4425/14/11/1999uterine neoplasmslineagepatterns of inheritanceriskfamily history |
| spellingShingle | Jennifer Thalita Targino dos Santos Reginaldo Cruz Alves Rosa Alison Luis Eburneo Pereira Alan Vinicius Assunção-Luiz Bruna Tavares Bacalá Victor Evangelista de Faria Ferraz Milena Flória Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer Genes uterine neoplasms lineage patterns of inheritance risk family history |
| title | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
| title_full | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
| title_fullStr | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
| title_full_unstemmed | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
| title_short | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
| title_sort | risk for hereditary neoplastic syndromes in women with mismatch repair proficient endometrial cancer |
| topic | uterine neoplasms lineage patterns of inheritance risk family history |
| url | https://www.mdpi.com/2073-4425/14/11/1999 |
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