Experience of Risk-reducing Salpingo-oophorectomy for a BRCA1 Mutation Carrier and Establishment of a System Performing a Preventive Surgery for Hereditary Breast and Ovarian Cancer Syndrome in Japan: Our Challenges for the Future

Hirasawa, Akira; Masuda, Kenta; Akahane, Tomoko; Tsuruta, Tomohiko; Banno, Kouji; Makita, Kazuya; Susumu, Nobuyuki; Jinno, Hiromitsu; Kitagawa, Yuko; Sugano, Kokichi; Kosaki, Kenjiro; Aoki, Daisuke

doi:10.1093/jjco/hyt036

Cited by 16 publications

(14 citation statements)

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“…Ovarian deficiency symptoms may develop and they present a major concern, particularly in premenopausal women (24). These symptoms begin with vasomotor effects and mood disorders caused by menopausal symptoms and lead to atrophic vaginitis, incontinence, osteoporosis, dyslipidemia and associated arteriosclerotic diseases.…”

Section: Complications and Surveillance Following Rrsmentioning

confidence: 99%

“…Therefore, the preferred regimen in these patients is EPT, comprising 0.625 mg of conjugated estrogen daily and 5-10 mg of medroxyprogesterone acetate for ≥10 days over 28 days (47). However, EPT may increase the risk of breast cancer and HRT in patients with breast cancer may induce tumor cell proliferation; therefore, its use is contraindicated (24). In a study with a follow-up of 11 years, an increased risk of breast cancer was found with EPT, but not with ET (48), with hazard ratios of 1.25 (95% CI: 1.07-1.46) with EPT and 0.77 (95% CI: 0.62-0.95) with ET.…”

Section: Complications and Surveillance Following Rrsmentioning

confidence: 99%

“…Regarding costs, in the US, the rate of prophylactic oophorectomy covered by health insurance was 18% in women with an ovarian cancer family history and 20% in women with a known BRCA mutation (60). Anderson et al (61) (24) and a case at the Cancer Institute Hospital in 2011 (64). In Lynch syndrome, modified radical hysterectomy and BSO were performed as an early intervention at the stage of atypical endometrial hyperplasia in a case at Keio University Hospital in 2011 (65).…”

Section: Current Status Of Rrs Worldwidementioning

confidence: 99%

“…In that case, a woman aged 46 years with an MLH1 mutation, who wanted to bear children, did not undergo surgery after endometrial hyperplasia was found in initial screening, but underwent surgery following a histological examination that detected complex endometrial hyperplasia with atypia. RRS is not common in Japan, due to the limited number of genetic counseling units and facilities that perform BRCA1/2 genetic tests, the lack of coverage of RRS for HBOC and Lynch syndrome by the health insurance system and insufficient knowledge and experience of medical staff regarding genetic diagnosis (24). In China, 12 patients with BRCA mutations were treated with RRSO (66), but RRS for Lynch syndrome has not yet been reported.…”

Section: Current Status Of Rrs Worldwidementioning

confidence: 99%

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Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer

Adachi

Banno

Yanokura

et al. 2014

Molecular and Clinical Oncology

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Abstract. Risk-reducing surgery (RRS) is defined as a prophylactic approach with removal of organs at high risk of developing cancer, which is performed in cases without lesions or absence of clinically significant lesions. Hereditary gynecological cancers for which RRS is performed include hereditary breast and ovarian cancer (HBOC) and Lynch syndrome. For HBOC, RRS in the United States (US) is recommended for women with mutations in the breast cancer susceptibility (BRCA)1 and BRCA2 genes and bilateral salpingo-oophorectomy (BSO) is generally performed. This procedure may reduce the risk of breast, ovarian, Fallopian tube and primary peritoneal cancer, although ovarian deficiency symptoms occur postoperatively. For Lynch syndrome, RRS in the US is considered for postmenopausal women or for women who do not desire to bear children and BSO and hysterectomy are usually performed. This approach may reduce the risk of endometrial and ovarian cancer, although ovarian deficiency symptoms also occur. For RRS, there are several issues that must be addressed to reduce the risk of cancer development in patients with HBOC or Lynch syndrome. To the best of our knowledge, this is the first review to discuss RRS with a focus on hereditary gynecological cancer. IntroductionHereditary gynecological cancers include ovarian cancer associated with hereditary breast and ovarian cancer (HBOC); endometrial and ovarian cancer associated with Lynch syndrome; endometrial, cervical and ovarian cancer associated with Peutz-Jeghers syndrome; and ovarian cancer associated with Cowden disease. HBOC is an autosomal dominant hereditary disease that may cause breast, ovarian, Fallopian tube and peritoneal cancer.Mutations of the breast cancer susceptibility (BRCA)1 and BRCA2 genes have been identified in ~8-13% of patients with ovarian cancer (1,2). By the age of 70 years, the estimated risks of developing ovarian cancer are 35-60 and 10-27% in BRCA1 and BRCA2 mutation carriers, respectively (2). The mean ages at diagnosis of ovarian cancer are 54, 62 and 63 years for BRCA1 and BRCA2 mutation carriers and non-carriers, respectively, indicating that BRCA1 mutation carriers are more likely to be affected by ovarian cancer at a younger age (3). Clinicopathologically, the majority of ovarian cancers that are BRCA1/2 mutation-positive are of serous histology and are poorly differentiated (grade 3) stage III-IV tumors, according to the International Federation of Gynecology and Obstetrics (FIGO) staging criteria, as defined in 1988 (4,5). In BRCA1/2 mutation-positive and -negative cases, the rates of serous adenocarcinoma are 63-86 and 57-58%, those of poorly differentiated tumors 68-87 and 48-58% and those of stage III-IV tumors 72-88 and 62-70%, respectively.Lynch syndrome, also referred to as hereditary non-polyposis colorectal cancer, is an autosomal dominant hereditary disease that may lead to colorectal, endometrial, gastric and ovarian cancer. Lynch syndrome is caused by germline mutations in DNA mismatch repair (MMR) genes, which include mu...

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Section: Complications and Surveillance Following Rrsmentioning

confidence: 99%

Section: Complications and Surveillance Following Rrsmentioning

confidence: 99%

Section: Current Status Of Rrs Worldwidementioning

confidence: 99%

Section: Current Status Of Rrs Worldwidementioning

confidence: 99%

See 2 more Smart Citations

Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer

Adachi

Banno

Yanokura

et al. 2014

Molecular and Clinical Oncology

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“…BRCA1/2 testing has been performed for Japanese kindred suspicious of HBOC in association with the Center for Medical Genetics, Keio University School of Medicine (Tokyo, Japan) (36,37).…”

Section: Brca1/2 Testingmentioning

confidence: 99%

Family History and BRCA1/BRCA2 Status Among Japanese Ovarian Cancer Patients and Occult Cancer in a BRCA1 Mutant Case

Hirasawa

Masuda

Akahane

et al. 2013

Japanese Journal of Clinical Oncology

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Background: This study aimed to examine family history among Japanese ovarian cancer patients and to investigate the TP53 status of fallopian tube epithelial and ovarian cancer cells in a Japanese BRCA1 mutant case that may be associated with the transformed state in hereditary ovarian cancer. Methods: One hundred and two primary ovarian cancer patients were retrospectively evaluated in this cross-sectional study. The family history of cancer was determined in probands. In a BRCA1 mutant case, p53 immunostaining and direct sequencing, followed by laser-capture microdissection, were performed for the fallopian tube, considered the origin of ovarian cancer. Results: Nine of 102 (8.8%) families were regarded as having hereditary breast -ovarian cancer syndrome, two families (2.0%) were diagnosed with Lynch syndrome and six patients harbored BRCA1 or BRCA2 mutations. One case underwent risk-reductive salpingooophorectomy as a BRCA1 mutant carrier was retrospectively diagnosed as occult cancer. Common TP53 mutations were detected in cancer and fallopian tube epithelial cells in the case. Conclusions: Here, we integrate family cancer history and histology in ovarian cancer cases as well as TP53 status in a BRCA1 mutant case into a discussion regarding carcinogenesis in a Japanese population. The TP53 status for the BRCA1 mutant case examined here supports the recently proposed theory that ovarian cancer develops because of BRCA1 or BRCA2 inactivation and/or TP53 mutations.

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Germline BRCA1‐Mutated Synchronous and Metachronous Pancreatic Acinar Cell Carcinoma With Long‐Term Survival

Kubo,

Ikeda,

Muramatu

et al. 2024

Cancer Reports

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BackgroundPancreatic acinar cell carcinoma (PACC) is a rare pancreatic neoplasm. Recently, molecular analysis revealed that PACC shows a high frequency of the BRCA1/2 mutation and is likely to be considered a cancer associated with hereditary breast and ovarian cancer (HBOC). Hereditary cancers, including HBOC, are characterized by multifocal and/or metachronous tumors. However, no case reports exist of germline BRCA1‐mutated synchronous and metachronous PACC.CaseA 58‐year‐old man was diagnosed with synchronous and metachronous PACC at the age of 56 and underwent two surgeries. Ten months after the second surgery, the patient developed multiple liver metastases. Gemcitabine plus nab‐paclitaxel therapy was administered as first‐line chemotherapy. After seven cycles, computed tomography examination revealed progressive disease (PD). Therefore, modified FOLFIRINOX (mFFX) was administered as second‐ line chemotherapy. After 19 cycles of mFFX, comprehensive cancer genomic profiling (CGP) identified a BRCA1 pathogenic variant that was confirmed to be germline origin. Accordingly, we treated the patient with olaparib; however, he was diagnosed with PD after 4 months. He subsequently died 5 years and 9 months after the initial surgery, and 3 years and 10 months after chemotherapy. Based on the genetic data of the patients, his family members received genetic counseling followed by cascade testing. Consequently, the same gBRCA1 pathogenic variant was detected in the son and his surveillance for HBOC‐related cancers was initiated.ConclusionWe diagnosed a 58‐year‐old man with a synchronous and metachronous PACC with germline BRCA1 pathogenic variant. Considering that PACC is likely to have BRCA1/2 mutations responsible for HBOC, we need to be aware of the possible presence of multifocal and/or metachronous tumors in patients with PACC. Additionally, patients with PACC should undergo genetic examinations, which would be beneficial in determining treatment strategies and health care for blood relatives.

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Experience of Risk-reducing Salpingo-oophorectomy for a BRCA1 Mutation Carrier and Establishment of a System Performing a Preventive Surgery for Hereditary Breast and Ovarian Cancer Syndrome in Japan: Our Challenges for the Future

Cited by 16 publications

References 28 publications

Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer

Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer

Family History and BRCA1/BRCA2 Status Among Japanese Ovarian Cancer Patients and Occult Cancer in a BRCA1 Mutant Case

Germline BRCA1‐Mutated Synchronous and Metachronous Pancreatic Acinar Cell Carcinoma With Long‐Term Survival

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