Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity

JCO Precis Oncol. 2021 Nov:5:1044-1047. doi: 10.1200/PO.20.00454.

Authors

Ava Kwong^{1

2

3}, Chun Hang Au⁴, Vivian Y Shin¹, Dona N Ho⁴, Elaine Y L Wong⁴, Cecilia Y S Ho⁴, Yvonne Chung⁴, Tsun Leung Chan^{3

4}, Edmond S K Ma^{3

4}

Affiliations

¹ Department of Surgery, The University of Hong Kong and The University of Hong Kong-Shenzhen Hospital, Hong Kong, China.
² Department of Surgery and Cancer Genetics Centre, Hong Kong Sanatorium and Hospital, Hong Kong, China.
³ Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong Sanatorium and Hospital, Hong Kong, China.
⁴ Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium and Hospital, Hong Kong, China.

PMID: 34994627
DOI: 10.1200/PO.20.00454

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Breast Neoplasms / genetics*
Chromosome Mapping / methods
Fanconi Anemia Complementation Group N Protein / genetics*
Female
Gene Duplication
Germ Cells*
Humans
Polymerase Chain Reaction / methods
Time Factors

Substances

Fanconi Anemia Complementation Group N Protein
PALB2 protein, human