Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art

ABSTRACT

Introduction

A genetic predisposition seems to be involved in biliary tract cancer, but the prevalence of germline mutations in BTC remains unclear, and the therapeutic role of the germline pathologic variants is still unknown.

Area covered

The aim of the present work is to systematically review the data available on the hereditary predisposition of biliary tract cancer by a specific research on PubMed, in order to highlight the most important critical points and to define the current possible role of germinal testing and genetic counseling in this setting of patients.

Expert opinion

Basing on data already available, we decided to start in our institution a specific genetic protocol focused on biliary tract cancer patients, which includes genetic counseling and, if indicated, germline test. The inclusion criteria are: 1) Patient with personal history of oncologic disease other than BTC, 2) Patient with familiar history of oncologic disease (considering relatives of first and second grade), 3) Patient with ≤ 50 years old, 4) Patient presenting a somatic mutation in genes involved in DNA damage repair pathways and mismatch repair. The aim of the presented protocol is to identify germline pathogenic variants with prophylactic and therapeutic impact, and to collect and integrate a significant amount of clinical, familial, somatic, and genetic data.

KEYWORDS:

• Biliary tract cancer
• germline test
• Genetic predisposition
• genetic syndrome
• familiar predisposition

Article highlights

• A genetic predisposition seems to underlie a number of cases of Biliary tract cancer, but no conclusive data are available.

• Further data are mandatory.

• We design a focused protocol in our institution in order to improve knowledge in this setting.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Authors’ contributions

All authors contributed to conception and design, acquisition of data (acquired and managed patients), analysis and interpretation of data, writing, review, and/or revision of the manuscript and final approval of manuscript.

Additional information

Funding

This paper was not funded.