Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing
A 24-year-old woman suspected of Lynch syndrome was found to carry a BRCA1 pathogenic variant, based on germline multigene panel testing (MGPT). The patient was diagnosed with endometrial carcinoma and underwent modified radical hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy,...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2022-08-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/525941 |
| _version_ | 1798000103289520128 |
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| author | Xiaofei Wang Keika Kaneko Hiromi Arakawa Eri Habano Makiko Omi Eri Nakashima Hiroshi Kawachi Akiko Tonooka Kohei Omatsu Hidetaka Nomura Mayu Yunokawa Hiroyuki Kanao Shunji Takahashi Takeshi Nakajima Arisa Ueki |
| author_facet | Xiaofei Wang Keika Kaneko Hiromi Arakawa Eri Habano Makiko Omi Eri Nakashima Hiroshi Kawachi Akiko Tonooka Kohei Omatsu Hidetaka Nomura Mayu Yunokawa Hiroyuki Kanao Shunji Takahashi Takeshi Nakajima Arisa Ueki |
| author_sort | Xiaofei Wang |
| collection | DOAJ |
| description | A 24-year-old woman suspected of Lynch syndrome was found to carry a BRCA1 pathogenic variant, based on germline multigene panel testing (MGPT). The patient was diagnosed with endometrial carcinoma and underwent modified radical hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy, and omentectomy at the age of 23. Based on her father’s history of colorectal cancer and her history of early onset endometrial cancer, mismatch repair protein immunohistochemistry analysis was performed. However, no loss of expression for mismatch repair proteins was found. Given her family history of ovarian and breast cancers, MGPT was recommended to identify the presence of any hereditary tumor syndromes. This testing revealed a BRCA1 pathogenic variant (exon13: c.1016delA, p.Lys339ArgfsX2) and diagnosed as hereditary breast and ovarian cancer syndrome (HBOC). Subsequently, the patient’s mother also underwent single-site analysis for this variant, and the same pathogenic variant was detected. The patient and her mother are at high risk of developing BRCA1-associated HBOC-related cancers. Based on family history, clinical surveillance is currently underway for this patient and her mother. Currently, MGPT offers the potential for comprehensive genetic cancer risk assessment and may provide a more rational approach for the genetic assessment of those individuals whose personal and family cancer histories do not fit neatly into a single syndrome. This case suggests that if a patient is at high risk for hereditary tumor syndromes, MGPT should be considered to improve disease management strategies in clinical settings. |
| first_indexed | 2024-04-11T11:14:54Z |
| format | Article |
| id | doaj.art-4515355e887943b7843016e0cf77c768 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-04-11T11:14:54Z |
| publishDate | 2022-08-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-4515355e887943b7843016e0cf77c7682022-12-22T04:27:16ZengKarger PublishersCase Reports in Oncology1662-65752022-08-0115279279710.1159/000525941525941Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel TestingXiaofei Wang0https://orcid.org/0000-0002-1471-4560Keika Kaneko1https://orcid.org/0000-0002-1412-6523Hiromi Arakawa2Eri Habano3Makiko Omi4Eri Nakashima5Hiroshi Kawachi6https://orcid.org/0000-0002-8270-791XAkiko Tonooka7Kohei Omatsu8Hidetaka Nomura9https://orcid.org/0000-0002-2742-5282Mayu Yunokawa10Hiroyuki Kanao11Shunji Takahashi12Takeshi Nakajima13Arisa Ueki14Department of Medical Oncology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Clinical Genetics, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Clinical Genetics, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Clinical Genetics, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Gynecology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Breast Surgery, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDivision of Pathology, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, JapanDivision of Pathology, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Gynecology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Gynecology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Gynecology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Gynecology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Medical Oncology, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Clinical Genetics, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanDepartment of Clinical Genetics, The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, JapanA 24-year-old woman suspected of Lynch syndrome was found to carry a BRCA1 pathogenic variant, based on germline multigene panel testing (MGPT). The patient was diagnosed with endometrial carcinoma and underwent modified radical hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy, and omentectomy at the age of 23. Based on her father’s history of colorectal cancer and her history of early onset endometrial cancer, mismatch repair protein immunohistochemistry analysis was performed. However, no loss of expression for mismatch repair proteins was found. Given her family history of ovarian and breast cancers, MGPT was recommended to identify the presence of any hereditary tumor syndromes. This testing revealed a BRCA1 pathogenic variant (exon13: c.1016delA, p.Lys339ArgfsX2) and diagnosed as hereditary breast and ovarian cancer syndrome (HBOC). Subsequently, the patient’s mother also underwent single-site analysis for this variant, and the same pathogenic variant was detected. The patient and her mother are at high risk of developing BRCA1-associated HBOC-related cancers. Based on family history, clinical surveillance is currently underway for this patient and her mother. Currently, MGPT offers the potential for comprehensive genetic cancer risk assessment and may provide a more rational approach for the genetic assessment of those individuals whose personal and family cancer histories do not fit neatly into a single syndrome. This case suggests that if a patient is at high risk for hereditary tumor syndromes, MGPT should be considered to improve disease management strategies in clinical settings.https://beta.karger.com/Article/FullText/525941endometrial cancerbrca1multigene panel testinghereditary breast and ovariancancer syndromelynch syndrome |
| spellingShingle | Xiaofei Wang Keika Kaneko Hiromi Arakawa Eri Habano Makiko Omi Eri Nakashima Hiroshi Kawachi Akiko Tonooka Kohei Omatsu Hidetaka Nomura Mayu Yunokawa Hiroyuki Kanao Shunji Takahashi Takeshi Nakajima Arisa Ueki Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing Case Reports in Oncology endometrial cancer brca1 multigene panel testing hereditary breast and ovarian cancer syndrome lynch syndrome |
| title | Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing |
| title_full | Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing |
| title_fullStr | Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing |
| title_full_unstemmed | Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing |
| title_short | Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing |
| title_sort | detection of brca1 pathogenic variant in a 24 year old endometrial cancer patient risks of several hereditary tumor syndromes assessed using germline multigene panel testing |
| topic | endometrial cancer brca1 multigene panel testing hereditary breast and ovarian cancer syndrome lynch syndrome |
| url | https://beta.karger.com/Article/FullText/525941 |
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