BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping

Sharma, M.B.; Carus, Andreas; Sunde, Lone; Hamilton-Dutoit, Stephen; Ladekarl, Morten

doi:10.3109/0284186x.2015.1044023

Cited by 16 publications

(10 citation statements)

References 19 publications

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“…Sharma et al described three cases of BRCA mutated PDAC responding to platinum based chemotherapy. Two patients have responded to oxaliplatin in combination regimen FOLFIRINOX administered in neoadjuvant setting, and one patient had a partial response after first line chemotherapy gemcitabine plus cisplatin [20]. Retrospective analysis by Tran et al of five patients with BRCA mutated PDAC from Ontario Pancreatic Cancer Study and pharmacy database supports previously reported effectiveness of platinum-based chemotherapy in BRCA-mutated PDAC [21].…”

Section: Discussionsupporting

confidence: 52%

Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Lemstrova¹,

Melichar²,

Beatrice³

2017

Pancreat Disord Ther

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Section: Discussionsupporting

confidence: 52%

Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Lemstrova¹,

Melichar²,

Beatrice³

2017

Pancreat Disord Ther

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“…Given the patient's two presumed independent primary cancers and his family history of maternal breast cancer, he was referred for genetic testing (Invitae, Palo Alto, CA). He was found to carry a germline BRCA1 splice site mutation (c.213‐11T>G, ClinVar variation ID: 37449), previously described in association with hereditary breast and ovarian cancer syndrome and, less commonly, with other cancers including pancreaticobiliary tumors .…”

Section: Molecular Tumor Boardmentioning

confidence: 99%

“…This is also a rare case of cholangiocarcinoma in the setting of a germline BRCA1 mutation . The BRCA1 gene, involved in DNA repair by homologous recombination, was discovered in association with hereditary breast and ovarian cancer syndrome and has been shown to confer increased risk for colon, gastric, and pancreatic cancer, although its impact on biliary cancer is not well established .…”

Section: Functional and Clinical Significancementioning

confidence: 99%

Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion

et al. 2018

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Biliary tract cancers such as cholangiocarcinoma represent a heterogeneous group of cancers that can be difficult to diagnose. Recent comprehensive genomic analyses in large cholangiocarcinoma cohorts have defined important molecular subgroups within cholangiocarcinoma that may relate to anatomic location and etiology [1-4] and may predict responsiveness to targeted therapies in development [5][6][7]. These emerging data highlight the potential for tumor genomics to inform diagnosis and treatment options in this challenging tumor type. We report the case Correspondence: Robin K.

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“…Importantly, defective DNA repair enhances tumor heterogeneity and promotes tumor progression [ 68 ]. Hence, BRCAm generally correlate with poor response to standard treatments, although notable responses to platinum-based treatment or PARPi have been reported [ 69 ]. In 2017, Golan and colleagues published a retrospective analysis of 18 patients with confirmed BRCAm CCA [ 15 ].…”

Section: Ddr Deficiency and Brcam In Btcmentioning

confidence: 99%

PARP Inhibitors in Biliary Tract Cancer: A New Kid on the Block?

et al. 2020

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Poly adenosine diphosphate-ribose polymerase inhibitors (PARPi) represent an effective therapeutic strategy for cancer patients harboring germline and somatic aberrations in DNA damage repair (DDR) genes. BRCA1/2 mutations occur at 1–7% across biliary tract cancers (BTCs), but a broader spectrum of DDR gene alterations is reported in 28.9–63.5% of newly diagnosed BTC patients. The open question is whether alterations in genes that are well established to have a role in DDR could be considered as emerging predictive biomarkers of response to platinum compounds and PARPi. Currently, data regarding PARPi in BTC patients harboring BRCA and DDR mutations are sparse and anecdotal; nevertheless, a variety of clinical trials are testing PARPi as monotherapy or in combination with other anticancer agents. In this review, we provide a comprehensive overview regarding the genetic landscape of DDR pathway deficiency, state of the art and future therapeutic implications of PARPi in BTC, looking at combination strategies with immune-checkpoint inhibitors and other anticancer agents in order to improve survival and quality of life in BTC patients.

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BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping

Cited by 16 publications

References 19 publications

Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion

PARP Inhibitors in Biliary Tract Cancer: A New Kid on the Block?

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