• Journal of the korean academy of Pediatric Dentistry
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• v.50 no.2
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• pp.179-191
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• 2023

The purpose of this study was to investigate the prevalence and patterns of congenitally missing teeth in permanent teeth excluding third molars, in patients aged 8 to 16 years who visited Pusan National University Dental Hospital from January 2010 to February 2021. This retrospective study evaluated tooth agenesis and the pattern of missing teeth represented by the tooth agenesis code by reviewing panoramic radiographs and electronic medical records of 11,759 patients, including 5,548 females and 6,211 males. The prevalence of congenitally missing teeth was 10.74% (females 11.95%, males 9.66%, p < 0.0001). Patients with tooth agenesis had an average of 2.22 missing teeth, and congenitally missing teeth occurred more frequently in the mandible (8.39%) than in the maxilla (4.52%, p < 0.0001). The mandibular second premolar (58.19%) was the most frequently missing tooth. The second premolar was the most frequently missing tooth in all quadrants (30.10%, 31.67%, 43.14%, and 35.59%) when a single tooth was absent, while the first and second premolars were the most commonly absent teeth (11.69%, 11.47%, 5.94%, and 5.24%) when two or more teeth were missing. In the relationship between maxillary-mandibular antagonistic quadrants and full mouth, the 1st to 4th place of the missing patterns were all involved with the 1st and 2nd premolars. This study can be clinically helpful in establishing a treatment plan for patients with missing teeth. In addition, it can be used as basic data for molecular biological research to find out the relationship between tooth agenesis and specific genes.

• Radiation Oncology Journal
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• v.26 no.1
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• pp.65-73
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• 2008

Purpose: Women with breast cancer diagnosed at an age of 40 years or younger have a greater prevalence of germline BRCA1 and BRCA2 mutations than the prevalence of women with breast cancer diagnosed at older ages. Several immunohistochemical characteristics have been identified in breast cancers from studies of Caucasian women with BRCA1/2 mutations having familial or early-onset breast cancers. The aim of this study is to determine whether early-onset breast cancer in BRCA1 or BRCA2 mutation carriers, who were not selected from a family history, could be distinguished by the use of immunohistochemical methods and could be distinguished from breast cancer in women of a similar age without a germline BRCA1 or BRCA2 mutation. We also analyzed the prognostic difference between BRCA1/2 related and BRCA1/2 non-related patients by the use of univariate and multivariate analysis. Materials and Methods: Breast cancer tissue specimens from Korean women with early-onset breast cancers were studied using a tumor tissue microarray. Immunohistochemical staining of estrogen receptor(ER), progesterone receptor(PR) and HER-2, as well as the histology and grade of these specimens, were compared. The prognostic impact of immunohistochemical and histological factors as well as the BRCA1/2 mutation status was investigated separately. Results: There were 14 cases and 16 deleterious BRCA1/2 mutations among 101 patients tested. A family history(4/14) and bilateral breast cancers(3/9) were high risk factors for BRCA1/2 mutations. BRCA1/2-associated cancers demonstrated more expression of ER-negative(19.4% versus 5.1%, p=0.038) and HER-2 negative than BRCA1/2 negative tumors, especially for tumors with BRCA1 tumors The BRCA1/2 mutation rate for patients with triple negative tumors(negative expression of ER, PR and HER-2) was 24.2%. Tumor size, nodal status, and HER-2 expression status were significantly associated with disease free survival, as determined by univariate and multivariate analysis, but the BRCA1/2 status was not a prognostic factor. Conclusion: Breast cancer that occurs in women with a germline BRCA1 or BRCA2 mutations have recognizable immunohistochemical features, which may be useful in identifying individuals that are more likely to carry germline mutations. Although the BRCA1/2 mutation status was not a prognostic factor in Korean women with early-onset breast cancer, more cases with a longer follow-up period are needed for further study.