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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| Veröffentlicht in: | Genes 2023-10, Vol.14 (11), p.1999 |
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| creator | Dos Santos, Jennifer Thalita Targino Rosa, Reginaldo Cruz Alves Pereira, Alison Luis Eburneo Assunção-Luiz, Alan Vinicius Bacalá, Bruna Tavares Ferraz, Victor Evangelista de Faria Flória, Milena |
| 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. |
| doi_str_mv | 10.3390/genes14111999 |
| format | Article |
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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.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes14111999</identifier><identifier>PMID: 38002942</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adenomatous Polyposis Coli ; Antimitotic agents ; Antineoplastic agents ; Breast cancer ; Cancer ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology ; DNA Mismatch Repair - genetics ; DNA repair ; Endometrial cancer ; Endometrial Neoplasms - diagnosis ; Endometrium ; Familial adenomatous polyposis ; Family medical history ; Female ; Genetic aspects ; Genetic Predisposition to Disease ; Humans ; Malignancy ; Mismatch repair ; Ovarian cancer</subject><ispartof>Genes, 2023-10, Vol.14 (11), p.1999</ispartof><rights>COPYRIGHT 2023 MDPI AG</rights><rights>2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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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.</description><subject>Adenomatous Polyposis Coli</subject><subject>Antimitotic agents</subject><subject>Antineoplastic agents</subject><subject>Breast cancer</subject><subject>Cancer</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - pathology</subject><subject>DNA Mismatch Repair - genetics</subject><subject>DNA repair</subject><subject>Endometrial cancer</subject><subject>Endometrial Neoplasms - diagnosis</subject><subject>Endometrium</subject><subject>Familial adenomatous polyposis</subject><subject>Family medical history</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Malignancy</subject><subject>Mismatch repair</subject><subject>Ovarian cancer</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpt0c1PFTEQAPDGSIQAR6-miRcvi9Mvd3skLyAmIAY1HjfddgrF3fbZ9sXw31s-NGBoD500v5lMZgh5zeBACA3vLzFiYZIxprV-QXY49KKTkquXj-Jtsl_KNbQjgQOoV2RbDABcS75D3EUoP6lPmZ5gRheqyTf0M6b1bEoNln69iS6nBQsNkf5oQaS_Q72iZ6EsptoreoFrE3L3JScfbMBY6VF0zdUczExXJlrMe2TLm7ng_sO7S74fH31bnXSn5x8_rQ5POysGUTvskQvlmBoGhMFrB2biXlqrNQ4SLTABXk6c-0lNXIlJOhQgG5SAk7Jil7y7r7vO6dcGSx2XUCzOs4mYNmXkgxaDlAxUo2__o9dpk2Pr7k6BlL16pC7NjGOIPtVs7G3R8bDvpWgz7j80dfCMatfhEmyK6EP7f5LQ3SfYnErJ6Md1Dkub_MhgvF3s-GSxzb95aHYzLej-6b9rFH8A0TSdTg</recordid><startdate>20231026</startdate><enddate>20231026</enddate><creator>Dos Santos, Jennifer Thalita Targino</creator><creator>Rosa, Reginaldo Cruz Alves</creator><creator>Pereira, Alison Luis Eburneo</creator><creator>Assunção-Luiz, Alan Vinicius</creator><creator>Bacalá, Bruna Tavares</creator><creator>Ferraz, Victor Evangelista de Faria</creator><creator>Flória, Milena</creator><general>MDPI AG</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-1733-5790</orcidid><orcidid>https://orcid.org/0000-0002-0656-1736</orcidid><orcidid>https://orcid.org/0000-0003-3644-3981</orcidid><orcidid>https://orcid.org/0000-0002-0910-3976</orcidid></search><sort><creationdate>20231026</creationdate><title>Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer</title><author>Dos Santos, Jennifer Thalita Targino ; 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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. 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| subjects | Adenomatous Polyposis Coli Antimitotic agents Antineoplastic agents Breast cancer Cancer Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - pathology DNA Mismatch Repair - genetics DNA repair Endometrial cancer Endometrial Neoplasms - diagnosis Endometrium Familial adenomatous polyposis Family medical history Female Genetic aspects Genetic Predisposition to Disease Humans Malignancy Mismatch repair Ovarian cancer |
| title | Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer |
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