Analysis of <i>BRCA1</i>- and <i>BRCA2</i>-Related Pancreatic Cancer and Survival

Boursi, Ben; Wileyto, E. Paul; Mamtani, Ronac; Domchek, Susan M.; Golan, Talia; Hood, Ryan; Reiss, Kim A.

doi:10.1001/jamanetworkopen.2023.45013

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…As previously mentioned, a cohort of 234 patients studied by Boursi B. et al (2023) indicated that there was no significant difference in overall survival between BRCA1/2-associated familial pancreatic cancer (FPC) with and without platinum exposure. However, there were differences in outcomes, underscoring the need to assess the association of BRCA1/2 mutations with platinum-based therapy in a larger cohort to determine its sensitivity and specificity [ 37 ]. The effectiveness of platinum-based therapy was reinforced by another cohort of 262 patients, which reported a median progression-free survival advantage for FPC patients with BRCA mutations compared to those not receiving platinum [ 38 ].…”

Section: Discussionmentioning

confidence: 99%

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis

Limijadi,

Muniroh,

Prajoko

et al. 2024

PLoS ONE

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Background Familial Pancreatic Cancer (FPC) presents a notable risk, with 3–10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC, suggesting BRCA1/BRCA2 mutations play a role. BRCA gene functions in DNA repair impact FPC management, influencing sensitivity to therapies like PARP inhibitors. Identifying mutations not only aids FPC treatment but also reveals broader cancer risks. However, challenges persist in selectively applying genetic testing due to cost constraints. This Systematic Review focuses on BRCA1/BRCA2 significance in FPC, diagnostic criteria, prognostic value, and limitations. Method Original articles published from 2013 to January 2023 were sourced from databases such as Scopus, PubMed, ProQuest, and ScienceDirect. Inclusion criteria comprised observational cohort or diagnostic studies related to the role of BRCA1/2 mutation in correlation to familial pancreatic cancer (FPC), while article reviews, narrative reviews, and non-relevant content were excluded. The assessment of bias used ROBINS-I, and the results were organized using PICOS criteria in a Google spreadsheet table. The systematic review adhered to the PRISMA 2020 checklist. Result We analyzed 9 diagnostic studies encompassing 1325 families and 4267 patients from Italy, USA, and Poland. Despite the limitation of limited homogenous PICO studies, our findings effectively present evidence. BRCA1/2 demonstrates benefits in detecting first-degree relatives FPC involvement with 2.26–10 times higher risk. These mutation findings also play an important role since with the BRCA1/2 targeted therapy, Poly-ADP Ribose Polymerase inhibitors (PARP) may give better outcomes of FPC treatment. Analysis of BRCA1 and BRCA2 administration’s impact on odds ratio (OR) based on six and five studies respectively. BRCA1 exhibited non-significant effects (OR = 1.26, P = 0.51), while BRCA2 showed significance (OR = 1.68, P = 0.04). No heterogeneity observed, indicating consistent results. Further research on BRCA1 is warranted. Conclusion Detecting the BRCA1/2 mutation gene offers numerous advantages, particularly in its correlation with FPC. For diagnostic and prognostic purposes, testing is strongly recommended for first-degree relatives, who face a significantly higher risk (2.26–10 times) of being affected. Additionally, FPC patients with identified BRCA1/2 mutations exhibit a more favorable prognosis compared to the non-mutated population. This is attributed to the availability of targeted BRCA1/2 therapy, which maximizes treatment outcomes.

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Section: Discussionmentioning

confidence: 99%

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis

Limijadi,

Muniroh,

Prajoko

et al. 2024

PLoS ONE

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The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation

Katona,

Lubinski,

Pal

et al. 2024

Cancer

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BackgroundThe lifetime risk of pancreatic cancer in women with a germline mutation in BRCA1 and BRCA2 is not well established. In an international prospective cohort of female carriers of BRCA1 and BRCA2 mutations, the cumulative incidence of pancreatic cancer from age 40 until 80 years was estimated.MethodsA total of 8295 women with a BRCA1 or BRCA2 mutation were followed for new cases of pancreatic cancer. Subjects were followed from the date of baseline questionnaire or age 40 years (whichever came last) until a new diagnosis of pancreatic cancer, death from another cause, or date of last follow‐up.ResultsThirty‐four incident pancreatic cancer cases were identified in the cohort. The annual risk of pancreatic cancer between age 40 and 80 years was 0.04% for BRCA1 carriers and 0.09% for BRCA2 carriers. Via the Kaplan–Meier method, the cumulative incidence from age 40 to 80 years was 2.2% (95% CI, 1.1%–4.3%) for BRCA1 carriers and 2.7% (95% CI, 1.3%–5.4%) for BRCA2 carriers. Only two of the 34 cases reported a first‐degree relative with pancreatic cancer (hazard ratio, 4.75; 95% CI, 1.13–19.9; p = .03). Risk factors for pancreatic cancer included alcohol intake and a history of diabetes. The 5‐year survival rate for the 34 cases was 8.8%.ConclusionsThe lifetime risk of pancreatic cancer is approximately 2% in women with a BRCA1 mutation and 3% for women with a BRCA2 mutation. The poor survival in hereditary pancreatic cancer underscores the need for novel antitumoral strategies.

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Analysis of BRCA1- and BRCA2-Related Pancreatic Cancer and Survival

Abstract: This cohort study compares the outcomes of patients with BRCA1 and BRCA-related pancreatic cancers using 2 large data sets.

Cited by 2 publications

References 6 publications

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis

The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation

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