Homologous recombination deficiency: cancer predispositions and treatment implications

MR Toh, J Ngeow - The oncologist, 2021 - academic.oup.com
Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR
genes are established cancer susceptibility genes with clinically actionable pathogenic …

Identifying breast cancer susceptibility genes–a review of the genetic background in familial breast cancer

C Wendt, S Margolin - Acta Oncologica, 2019 - Taylor & Francis
Introduction: Heritage is the most important risk factor for breast cancer. About 15–20% of
breast cancer is familial, referring to affected women who have one or more first-or second …

A decade of RAD51C and RAD51D germline variants in cancer

J Boni, A Idani, C Roca, L Feliubadaló… - Human …, 2022 - Wiley Online Library
Defects in DNA repair genes have been extensively associated with cancer susceptibility.
Germline pathogenic variants (GPV) in genes involved in homologous recombination repair …

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

B Pardini, A Corrado, E Paolicchi… - … journal of cancer, 2020 - Wiley Online Library
Interindividual differences in DNA repair systems may play a role in modulating the
individual risk of developing colorectal cancer. To better ascertain the role of DNA repair …

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

N Li, SM Rowley, ER Thompson, S McInerny… - Breast Cancer …, 2018 - Springer
Background Genome-wide association studies (GWASs) have identified numerous single-
nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk …

RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination

RA Baldock, CA Pressimone, JM Baird, A Khodakov… - DNA repair, 2019 - Elsevier
The proficiency of cancer cells to repair DNA double-strand breaks (DSBs) by homologous
recombination (HR) is a key determinant in predicting response to targeted therapies such …

Update breast cancer 2018 (part 2)–advanced breast cancer, quality of life and prevention

A Schneeweiss, MP Lux, W Janni… - Geburtshilfe und …, 2018 - thieme-connect.com
Die Behandlung des metastasierten Mammakarzinoms hat bei immer neu zu testenden
Therapien deutlich an Komplexität zugenommen. Therapien werden nunmehr nur noch für …

Dissecting the heritable risk of breast cancer: from statistical methods to susceptibility genes

V Fanfani, M Zatopkova, AL Harris, F Pezzella… - Seminars in cancer …, 2021 - Elsevier
Decades of research have shown that rare highly penetrant mutations can promote
tumorigenesis, but it is still unclear whether variants observed at high-frequency in the …

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition

M Cavaillé, N Uhrhammer, M Privat… - Genes …, 2021 - Wiley Online Library
Hereditary predisposition to cancer concerns between 5% and 10% of cancers. The main
genes involved in the most frequent syndromes (hereditary breast and ovarian cancer …

Recommandations françaises du Groupe Génétique et Cancer pour l'analyse en panel de gènes dans les prédispositions héréditaires au cancer du sein ou de l' …

J Moretta, P Berthet, V Bonadona, O Caron… - Bulletin Du Cancer, 2018 - Elsevier
Résumé Introduction Dans le contexte d'une suspicion de prédisposition aux cancers du
sein et de l'ovaire, le séquençage haut débit permet désormais d'analyser de nombreux …