Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome

Q: What was the objective of the study?

The study aimed to compare the germline mutational spectrum across hereditary breast, ovarian, and pancreatic cancer as one syndrome and address the lack of comparative data among these cancer types.

Q: How many probands and cancer types were enrolled?

A total of 730 probands were enrolled: 418 with breast cancer, 185 with ovarian cancer, and 145 with pancreatic cancer.

Q: Which genes were most dominant for different cancer types?

BRCA1 and BRCA2 were most dominant for hereditary breast and ovarian cancer, while ATM was the most prevalent gene for hereditary pancreatic cancer.

Sep 24, 2026

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Genetic high-risk assessment can integrate hereditary breast, ovarian, and pancreatic cancer into a single syndrome, yet comparative germline data across these three cancer types remain limited. In this study, 730 probands meeting hereditary criteria underwent multi-gene sequencing. Results quantify mutation prevalence by cancer type, identify differential double-cancer risks, and highlight dominant genes including BRCA1/BRCA2 for breast-ovarian and ATM for pancreatic disease, alongside observed colon-cancer–related findings. Conclusions support genetic counseling guidance based on mutation spectra and family history.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages15

Reading Time38 min

AccessFree to download

Abstract

Objective

Methods

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Author Contributions

J Gynecol Oncol. 2023 Sep;34(5):e66 [https://doi.org/10.3802/jgo.2023.34.e66](https://doi.org/10.3802/jgo.2023.34.e66)[ ](https://doi.org/10.3802/jgo.2023.34.e66)pISSN 2005-0380·eISSN 2005-0399 Original Article Received: Dec 31, 2022 Revised: Mar 6, 2023 Accepted: Apr 16, 2023 Published online: May 2, 2023 Correspondence to Chiun-Sheng Huang Department of Surgery, College of Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Email: [huangcs@ntu.edu.tw](huangcs@ntu.edu.tw) © 2023. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology, and Japan Society of Gynecologic Oncology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ([https://](https://)[ ](https://)[creativecommons.org/licenses/by-nc/4.0/](creativecommons.org/licenses/by-nc/4.0/)) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ORCID iDs Po-Han Lin [https://orcid.org/0000-0001-6066-398X](https://orcid.org/0000-0001-6066-398X)[ ](https://orcid.org/0000-0001-6066-398X)Yun-Wen Tien [https://orcid.org/0000-0002-9126-2705](https://orcid.org/0000-0002-9126-2705)[ ](https://orcid.org/0000-0002-9126-2705)[Wen-Fang Cheng](Wen-Fang Cheng) [https://orcid.org/0000-0002-3282-6304](https://orcid.org/0000-0002-3282-6304)[ ](https://orcid.org/0000-0002-3282-6304)[Ying-Cheng Chiang](Ying-Cheng Chiang) [https://orcid.org/0000-0002-8958-5222](https://orcid.org/0000-0002-8958-5222) Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome Po-Han Lin ,1,2 Yun-Wen Tien ,3 Wen-Fang Cheng ,4 Ying-Cheng Chiang ,4 Chien-Huei Wu ,3 Karen Yang ,5 Chiun-Sheng Huang 3 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan 2Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan 3Department of Surgery, National Taiwan University Hospital and Medical College of the National Taiwan University, Taipei, Taiwan 4Department of Gynecology and Obstetrics, National Taiwan University Hospital, Taipei, Taiwan 5Department of Molecular Biology, Princeton University, Princeton, NJ, USA ABSTRACT Objective: Genetic high-risk assessment combines hereditary breast, ovarian and pancreatic cancer into one syndrome. However, there is a lack of data for comparing the germline mutational spectrum of the cancer predisposing genes between these three cancers. Methods: Patients who met the criteria of the hereditary breast, ovarian and pancreatic cancer were enrolled and received multi-gene sequencing. Results: We enrolled 730 probands: 418 developed breast cancer, 185 had ovarian cancer, and 145 had pancreatic cancer. Out of the 18 patients who had two types of cancer, 16 had breast and ovarian cancer and 2 had breast and pancreatic cancer. A total of 167 (22.9%) patients had 170 mutations. Mutation frequency in breast, ovarian and pancreatic cancer was 22.3%, 33.5% and 17.2%, respectively. The mutation rate was significantly higher in patients with double cancers than those with a single cancer (p<0.001) . BRCA1 and BRCA2 were the most dominant genes associated with hereditary breast and ovarian cancer, whereas ATM was the most prevalent gene related to hereditary pancreatic cancer. Genes of hereditary colon cancer such as lynch syndrome were presented in a part of patients with pancreatic or ovarian cancer but seldom in those with breast cancer. Families with a history of both ovarian and breast cancer were associated with a higher mutation rate than those with other histories. Conclusion: The mutation spectrum varies across the three cancer types and family histories. Our analysis provides guidance for physicians, counsellors, and counselees on the offer and uptake of genetic couns

FAQs

What was the objective of the study?

The study aimed to compare the germline mutational spectrum across hereditary breast, ovarian, and pancreatic cancer as one syndrome and address the lack of comparative data among these cancer types.

How many probands and cancer types were enrolled?

A total of 730 probands were enrolled: 418 with breast cancer, 185 with ovarian cancer, and 145 with pancreatic cancer.

Which genes were most dominant for different cancer types?

BRCA1 and BRCA2 were most dominant for hereditary breast and ovarian cancer, while ATM was the most prevalent gene for hereditary pancreatic cancer.

Sep 24, 2026

Uploaded by Putri