Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Issued Date
2024-12-01
Resource Type
eISSN
20567944
Scopus ID
2-s2.0-85185099640
Journal Title
npj Genomic Medicine
Volume
9
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
npj Genomic Medicine Vol.9 No.1 (2024)
Suggested Citation
Kansuttiviwat C., Lertwilaiwittaya P., Roothumnong E., Nakthong P., Dungort P., Meesamarnpong C., Tansa-Nga W., Pongsuktavorn K., Wiboonthanasarn S., Tititumjariya W., Phuphuripan N., Lertbussarakam C., Wattanarangsan J., Sritun J., Punuch K., Kammarabutr J., Mutirangura P., Thongnoppakhun W., Limwongse C., Pithukpakorn M. Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. npj Genomic Medicine Vol.9 No.1 (2024). doi:10.1038/s41525-024-00400-4 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/97356
Title
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Author(s)
Kansuttiviwat C.
Lertwilaiwittaya P.
Roothumnong E.
Nakthong P.
Dungort P.
Meesamarnpong C.
Tansa-Nga W.
Pongsuktavorn K.
Wiboonthanasarn S.
Tititumjariya W.
Phuphuripan N.
Lertbussarakam C.
Wattanarangsan J.
Sritun J.
Punuch K.
Kammarabutr J.
Mutirangura P.
Thongnoppakhun W.
Limwongse C.
Pithukpakorn M.
Lertwilaiwittaya P.
Roothumnong E.
Nakthong P.
Dungort P.
Meesamarnpong C.
Tansa-Nga W.
Pongsuktavorn K.
Wiboonthanasarn S.
Tititumjariya W.
Phuphuripan N.
Lertbussarakam C.
Wattanarangsan J.
Sritun J.
Punuch K.
Kammarabutr J.
Mutirangura P.
Thongnoppakhun W.
Limwongse C.
Pithukpakorn M.
Corresponding Author(s)
Other Contributor(s)
Abstract
Multi-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.