Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study

Golan, Talia; Raitses‐Gurevich, Maria; Kelley, Robin K.; Bocobo, Andrea Grace; Borgida, Ayelet; Shroff, Rachna T.; Holter, Spring; Gallinger, Steven; Ahn, Daniel H.; Aderka, Dan; Jain, Apurva; Bekaii-Saab, T.; Friedman, Eitan; Javle, Milind

doi:10.1634/theoncologist.2016-0415

Cited by 105 publications

(85 citation statements)

References 45 publications

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“…Therefore, bile duct cancer was considered as a female hormone‐related cancer, especially gallbladder cancer. Golan et al . reported that BRCA1/2 mutations were detected in patients with bile duct cancer, commonly known as cholangiocarcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…36 Therefore, bile duct cancer was considered as a female hormone-related cancer, especially gallbladder cancer. Golan et al 37 reported that BRCA1/2 mutations were detected in patients with bile duct cancer, commonly known as cholangiocarcinoma. However, in this study, patients with MPC associated with ovarian cancer had a lower risk of developing gallbladder and bile duct cancers.…”

Section: Discussionmentioning

confidence: 99%

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Multiple primary cancers associated with endometrial and ovarian cancers: An analysis based upon the Japan Autopsy Annual Database from 2002 to 2010

Miki

Sugawara

Shibahara

et al. 2019

J of Obstet and Gynaecol

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Aim A thorough analysis of multiple primary cancers (MPC) could provide important information as to the pathogenesis of human malignancies. Analysis of MPC using clinical databases has been performed, but little has been done using autopsy cases. Therefore, in this study, we first retrospectively analyzed MPC associated with endometrial and ovarian cancers using the Japan Autopsy Annual Database. Methods The Japan Autopsy Annual Database from 2002 to 2010 was established by the Japanese Society of Pathology, Tokyo, Japan. Among the 164 211 autopsy cases registered, 9142 were cases of primary cancers. Results The patients with endometrial cancer‐associated MPC did have a lower risk of harboring colorectal cancer (odds ratio [OR], 0.63; 95% confidence interval [CI], 0.45–0.89) but had a higher risk of ovarian cancer (OR, 3.15; 95% CI, 2.11–4.71). Those with ovarian cancer‐associated MPC had a lower risk of harboring gallbladder cancer including bile ductal cancer (OR, 0.47; 95% CI, 0.27–0.80) but a higher risk of harboring breast (OR, 1.69; 95% CI, 1.20–2.38) and endometrial cancers (OR, 3.48; 95% CI, 2.33–5.20). Conclusion Both endogenous and exogenous factors are associated with the incidence of MPC. Results of our present study based on Japanese Autopsy Base first demonstrated that female hormones had a strong influence on the incidence of MPC. This study also demonstrated that the analysis of MPC using an autopsy database could have advantages over clinical database analysis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Multiple primary cancers associated with endometrial and ovarian cancers: An analysis based upon the Japan Autopsy Annual Database from 2002 to 2010

Miki

Sugawara

Shibahara

et al. 2019

J of Obstet and Gynaecol

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“…BRCA -mutated tumours are often sensitive to poly [ADP-ribose] polymerase (PARP) inhibition. Accordingly, in a retrospective clinical analysis in patients with BRCA -mutated cholangiocarcinoma ( n = 18), one of the four patients who received PARP inhibitors had a sustained disease response with a PFS duration of 42.6 months 146 . Although PARP inhibitors and inhibitors of ataxia-telangiectasia mutated (ATM), another DNA-repair protein, are currently being evaluated in multiple clinical trials for BRCA -mutated breast cancer, they have yet to be prospectively evaluated in patients with cholangiocarcinoma.…”

Section: Emerging Molecularly-directed Therapiesmentioning

confidence: 99%

Cholangiocarcinoma — evolving concepts and therapeutic strategies

et al. 2017

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Cholangiocarcinoma is a disease entity comprising diverse epithelial tumours with features of cholangiocyte differentiation: cholangiocarcinomas are categorized according to anatomical location as intrahepatic (iCCA), perihilar (pCCA), or distal (dCCA). Each subtype has a distinct epidemiology, biology, prognosis, and strategy for clinical management. The incidence of cholangiocarcinoma, particularly iCCA, has increased globally over the past few decades. Surgical resection remains the mainstay of potentially curative treatment for all three disease subtypes, whereas liver transplantation after neoadjuvant chemoradiation is restricted to a subset of patients with early stage pCCA. For patients with advanced-stage or unresectable disease, locoregional and systemic chemotherapeutics are the primary treatment options. Improvements in external-beam radiation therapy have facilitated the treatment of cholangiocarcinoma. Moreover, advances in comprehensive whole-exome and transcriptome sequencing have defined the genetic landscape of each cholangiocarcinoma subtype. Accordingly, promising molecular targets for precision medicine have been identified, and are being evaluated in clinical trials, including those exploring immunotherapy. Biomarker-driven trials, in which patients are stratified according to anatomical cholangiocarcinoma subtype and genetic aberrations, will be essential in the development of targeted therapies. Targeting the rich tumour stroma of cholangiocarcinoma in conjunction with targeted therapies might also be useful. Herein, we review the evolving developments in the epidemiology, pathogenesis, and management of cholangiocarcinoma.

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“…In addition, guidelines for genetic counseling and testing are not established for these tumor types. Germline mutations in BRCA1/2 mutations have been identified in a small subset of cholangiocarcinoma cases, and these influence the choice of targeted therapy for these tumors . Here, we aimed to define the prevalence of pathogenic germline mutations in an unselected group of patients with biliary tract cancers with or without a personal or family history of cancer to better understand the frequency and spectrum of pathogenic germline mutations in known cancer susceptibility genes.…”

Section: Introductionmentioning

confidence: 99%

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings

Maynard

Stadler

Berger

et al. 2020

Cancer

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BACKGROUND: With limited information on germline mutations in biliary tract cancers, this study performed somatic and germline testing for patients at Memorial Sloan Kettering Cancer Center with known biliary tract carcinoma with the aim of determining the frequency and range of pathogenic germline alterations (PGAs). METHODS: Patients with biliary tract carcinoma were consented for somatic tumor and matched blood testing of up to 468 genes via the Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets next-generation sequencing platform. A germline variant analysis was performed on a panel of up to 88 genes associated with an increased predisposition for cancer. Demographic and diagnostic details were collected. RESULTS: Germline mutations were tested in 131 patients. Intrahepatic cholangiocarcinoma was the most common cancer (63.4%), and it was followed by gallbladder adenocarcinoma (16.8%), extrahepatic cholangiocarcinoma (16%), and otherwise unspecified biliary tract cancer (3.8%). Known and likely PGAs were present in 21 patients (16.0%), with 9.9% harboring a PGA in a high/moderate-penetrance cancer predisposition gene. Among high-penetrance cancer susceptibility genes, PGAs were most commonly observed in BRCA1 and BRCA2 (33.3%), which made up 5.3% of the entire cohort, and they were followed by PALB2, BAP1, and PMS2. Mutations in ATM, MITF, and NBN, moderate-penetrance cancer susceptibility genes, were identified in 1 patient each. There was no observed difference in the types of mutations among the subtypes of biliary tract cancer. CONCLUSIONS: The frequency of PGAs found was comparable to existing data on the prevalence of germline mutations in other solid tumor types with matched tumor analysis. This provides support for the role of the BRCA1/2, ATM, and BAP1 genes in biliary tract cancer susceptibility.

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Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study

Cited by 105 publications

References 45 publications

Multiple primary cancers associated with endometrial and ovarian cancers: An analysis based upon the Japan Autopsy Annual Database from 2002 to 2010

Multiple primary cancers associated with endometrial and ovarian cancers: An analysis based upon the Japan Autopsy Annual Database from 2002 to 2010

Cholangiocarcinoma — evolving concepts and therapeutic strategies

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings

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