Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand

Author:

Kansuttiviwat ChalermkiatORCID,Lertwilaiwittaya Pongtawat,Roothumnong Ekkapong,Nakthong Panee,Dungort Peerawat,Meesamarnpong Chutima,Tansa-Nga Warisara,Pongsuktavorn Khontawan,Wiboonthanasarn Supakit,Tititumjariya Warunya,Phuphuripan Nannipa,Lertbussarakam Chittapat,Wattanarangsan Jantanee,Sritun Jiraporn,Punuch Kittiporn,Kammarabutr Jirayu,Mutirangura Pornthira,Thongnoppakhun WannaORCID,Limwongse Chanin,Pithukpakorn ManopORCID

Abstract

AbstractMulti-gene panel testing has led to the detection of pathogenic/likely pathogenic (P/LP) variants in many cancer susceptibility genes in patients with breast-ovarian cancer spectrum. However, the clinical and genomic data of Asian populations, including Thai cancer patients, was underrepresented, and the clinical significance of multi-gene panel testing in Thailand remains undetermined. In this study, we collected the clinical and genetic data from 4567 Thai patients with cancer in the hereditary breast-ovarian cancer (HBOC) spectrum who underwent multi-gene panel testing. Six hundred and ten individuals (13.4%) had germline P/LP variants. Detection rates of germline P/LP variants in breast, ovarian, pancreatic, and prostate cancer were 11.8%, 19.8%, 14.0%, and 7.1%, respectively. Non-BRCA gene mutations accounted for 35% of patients with germline P/LP variants. ATM was the most common non-BRCA gene mutation. Four hundred and thirty-two breast cancer patients with germline P/LP variants (80.4%) met the current NCCN genetic testing criteria. The most common indication was early-onset breast cancer. Ten patients harbored double pathogenic variants in this cohort. Our result showed that a significant proportion of non-BRCA P/LP variants were identified in patients with HBOC-related cancers. These findings support the benefit of multi-gene panel testing for inherited cancer susceptibility among Thai HBOC patients. Some modifications of the testing policy may be appropriate for implementation in diverse populations.

Funder

Health Systems Research Institute Grant, Siriraj Core Research Facility (SiCRF) Grant, Strategic Project Grant, Siriraj Chalermphrakiat Grant, Thanapat Fund

Health Systems Research Institute Grant, Siriraj Chalermphrakiat Grant

Publisher

Springer Science and Business Media LLC

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