TY - JOUR
T1 - Homologous Recombination Deficiency Scar
T2 - Mutations and Beyond-Implications for Precision Oncology
AU - van der Wiel, Alexander M A
AU - Schuitmaker, Lesley
AU - Cong, Ying
AU - Theys, Jan
AU - Van Hoeck, Arne
AU - Vens, Conchita
AU - Lambin, Philippe
AU - Yaromina, Ala
AU - Dubois, Ludwig J
PY - 2022/8/27
Y1 - 2022/8/27
N2 - Homologous recombination deficiency (HRD) is a prevalent in approximately 17% of tumors and is associated with enhanced sensitivity to anticancer therapies inducing double-strand DNA breaks. Accurate detection of HRD would therefore allow improved patient selection and outcome of conventional and targeted anticancer therapies. However, current clinical assessment of HRD mainly relies on determining germline BRCA1/2 mutational status and is insufficient for adequate patient stratification as mechanisms of HRD occurrence extend beyond functional BRCA1/2 loss. HRD, regardless of BRCA1/2 status, is associated with specific forms of genomic and mutational signatures termed HRD scar. Detection of this HRD scar might therefore be a more reliable biomarker for HRD. This review discusses and compares different methods of assessing HRD and HRD scar, their advances into the clinic, and their potential implications for precision oncology.
AB - Homologous recombination deficiency (HRD) is a prevalent in approximately 17% of tumors and is associated with enhanced sensitivity to anticancer therapies inducing double-strand DNA breaks. Accurate detection of HRD would therefore allow improved patient selection and outcome of conventional and targeted anticancer therapies. However, current clinical assessment of HRD mainly relies on determining germline BRCA1/2 mutational status and is insufficient for adequate patient stratification as mechanisms of HRD occurrence extend beyond functional BRCA1/2 loss. HRD, regardless of BRCA1/2 status, is associated with specific forms of genomic and mutational signatures termed HRD scar. Detection of this HRD scar might therefore be a more reliable biomarker for HRD. This review discusses and compares different methods of assessing HRD and HRD scar, their advances into the clinic, and their potential implications for precision oncology.
U2 - 10.3390/cancers14174157
DO - 10.3390/cancers14174157
M3 - (Systematic) Review article
C2 - 36077694
SN - 2072-6694
VL - 14
JO - Cancers
JF - Cancers
IS - 17
M1 - 4157
ER -