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Related Experiment Video

Updated: Jan 1, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Published on: October 6, 2014

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Xin Yang¹, Goska Leslie¹, Alicja Doroszuk²

¹Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology

|December 17, 2019

Summary

This summary is machine-generated.

Germline PALB2 pathogenic variants (PVs) significantly increase risks for female breast, ovarian, pancreatic, and male breast cancers. These findings aid in managing cancer risks for PALB2 PV carriers.

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Published on: February 28, 2021

Area of Science:

Genetics
Oncology
Cancer Epidemiology

Background:

Germline pathogenic variants (PVs) in DNA repair genes like PALB2 are associated with hereditary cancer syndromes.
The specific cancer risks, particularly for less common malignancies, linked to PALB2 PVs require further detailed characterization.

Purpose of the Study:

To estimate age-specific relative and absolute cancer risks associated with germline PALB2 PVs.
To investigate risks for breast, ovarian, pancreatic, male breast, prostate, and colorectal cancers in individuals with PALB2 PVs.

Main Methods:

Analysis of data from 524 families with PALB2 PVs across 21 countries.
Utilized complex segregation analysis to estimate relative risks (RRs) and absolute cancer risks.
Models were adjusted for residual familial aggregation and ascertainment schemes.

Main Results:

Significant associations found between PALB2 PVs and increased risks for female breast cancer (RR=7.18), ovarian cancer (RR=2.91), pancreatic cancer (RR=2.37), and male breast cancer (RR=7.34).
No evidence of increased risk for prostate or colorectal cancers.
Estimated lifetime risks by age 80 include 53% for female breast cancer, 5% for ovarian cancer, 2-3% for pancreatic cancer, and 1% for male breast cancer.

Conclusions:

PALB2 is confirmed as a major breast cancer susceptibility gene.
Substantial associations are established between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers.
Findings support the integration of PALB2 into cancer risk prediction models and clinical management strategies for carriers.