{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T12:01:46Z","timestamp":1784721706020,"version":"3.55.0"},"reference-count":36,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Multilocus Inherited Neoplasia Alleles Syndrome (MINAS) is defined by the presence of germline pathogenic or likely pathogenic variants in two or more distinct cancer susceptibility genes (CSGs) in the same individual. Although carriers may present more complex phenotypes, the clinical and molecular spectrum of MINAS remains poorly characterized, particularly in underrepresented populations. We aim to describe this phenomenon in a cohort of individuals from a Chilean institution. Methods: We retrospectively reviewed individuals evaluated at the Oncogenetic Counseling Unit of Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez (FALP) between 2020 and 2026 who underwent hereditary cancer multi-gene panel testing. Cases fulfilling MINAS criteria were described. We analyzed the association between MINAS and age at cancer diagnosis or multiple primary cancers, and reviewed reported cases with the same gene combinations. Results: From 1962 individuals tested, 398 harbored a pathogenic or likely pathogenic variant, and 14 fulfilled MINAS criteria, yielding a prevalence of 3.51% among positive cases. Breast cancer was the most common tumor type (76.9%), and ATM and CDKN2A were the most frequently involved genes. MINAS was significantly associated with a younger age at cancer diagnosis, but not with multiple primary cancers. Conclusions: MINAS prevalence in our cohort and the association with a younger diagnosis of cancer was consistent with published series. We identified seven previously unreported gene combinations, and common founder variants shifted the pattern away from predominantly BRCA-associated combinations. Despite the small sample size, this study adds relevant data from an underrepresented Latin American population.<\/jats:p>","DOI":"10.3390\/genes17070839","type":"journal-article","created":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:48:28Z","timestamp":1784717308000},"page":"839","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Report of Multilocus Inherited Neoplasia Alleles Syndrome in a Chilean Oncology Institute: New Combinations and Genetic Landscape"],"prefix":"10.3390","volume":"17","author":[{"given":"Francisca","family":"Sep\u00falveda Bustos","sequence":"first","affiliation":[{"name":"Secci\u00f3n Gen\u00e9tica, Departamento de Medicina, Hospital Cl\u00ednico Universidad de Chile, Santiago 8380456, Chile"},{"name":"Unidad Asesoramiento Gen\u00e9tico Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500000, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7167-8850","authenticated-orcid":false,"given":"Fernanda","family":"Martin Merlez","sequence":"additional","affiliation":[{"name":"Unidad Asesoramiento Gen\u00e9tico Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500000, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5074-1118","authenticated-orcid":false,"given":"Danitza","family":"Campos Jadrijevic","sequence":"additional","affiliation":[{"name":"Unidad Asesoramiento Gen\u00e9tico Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500000, Chile"},{"name":"Unidad de Gen\u00e9tica, Hospital del Salvador, Santiago 7500000, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Paz","family":"Saavedra","sequence":"additional","affiliation":[{"name":"Unidad Asesoramiento Gen\u00e9tico Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500000, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Selman Bravo","sequence":"additional","affiliation":[{"name":"Unidad Asesoramiento Gen\u00e9tico Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500000, Chile"},{"name":"Subgerencia Unidades de Diagn\u00f3stico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez OECI Cancer Center, Santiago 7500921, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1001\/jamaoncol.2015.4771","article-title":"Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review: A Case Series and Review","volume":"2","author":"Whitworth","year":"2016","journal-title":"JAMA Oncol."},{"key":"ref_2","unstructured":"(2026, March 17). 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