Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.
2/5 보강
TL;DR
Findings highlight variant- and sex-specific patterns and underscore the relevance of population-based data in refining cancer risk assessment and management of CHEK2 carriers.
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
추출되지 않음
I · Intervention 중재 / 시술
multigene panel testing
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
Recurrent c.470T > C and c.1427C > T variants comprised 41.6% of all cases. Our findings highlight variant- and sex-specific patterns and underscore the relevance of population-based data in refining cancer risk assessment and management of carriers.
OpenAlex 토픽 ·
BRCA gene mutations in cancer
Thyroid Cancer Diagnosis and Treatment
Wnt/β-catenin signaling in development and cancer
Findings highlight variant- and sex-specific patterns and underscore the relevance of population-based data in refining cancer risk assessment and management of CHEK2 carriers.
APA
Zehra Manav Yigit, Osman Semih Dikbas, et al. (2026). Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.. Cancer investigation, 44(4), 363-371. https://doi.org/10.1080/07357907.2025.2600078
MLA
Zehra Manav Yigit, et al.. " Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.." Cancer investigation, vol. 44, no. 4, 2026, pp. 363-371.
PMID
41416706 ↗
Abstract 한글 요약
is a moderate-penetrance tumor suppressor gene primarily linked to hereditary breast cancer, yet growing evidence implicates it in a wider tumor spectrum. Data from underrepresented populations, such as Türkiye, remains limited. We retrospectively analyzed 895 individuals referred for hereditary cancer evaluation between 2019 and 2025 who underwent multigene panel testing. Germline variants were identified using the Hereditary Cancer Solution Kit (Sophia Genetics) and classified per ACMG guidelines. Clinical, tumor, and histopathological data were reviewed. Twenty-four carriers (83.3% female) were detected: 45.8% harbored pathogenic, 41.6% likely pathogenic, and 12.5% variant of uncertain significance. Breast cancer was the most frequent (66.6%), followed by bladder cancer (8.3%), with isolated cases of ovarian, cervical, lung, papillary thyroid cancers, parathyroid adenoma, and thymoma. Missense variants predominated (75%), clustering in the FHA (66.6%) and kinase (33.4%) domains. Recurrent c.470T > C and c.1427C > T variants comprised 41.6% of all cases. Our findings highlight variant- and sex-specific patterns and underscore the relevance of population-based data in refining cancer risk assessment and management of carriers.
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🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
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