- Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
- Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
- Eur J Cancer. 2022 Nov 8 [2023 Jan 1];179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.
- PMID: 36495689
- PubMed abstract
- Source abstract
- Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
- Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
- Eur J Cancer. 2022 Nov 13 [2023 Jan 1];179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.
- PMID: 36509001
- PubMed abstract
- Concordance between single-nucleotide polymorphism-based genomic instability assays and a next-generation sequencing-based homologous recombination deficiency test.
- Cristescu R, Liu XQ, Arreaza G, Chen C, Albright A, Qiu P, Marton MJ.
- BMC Cancer. 2022 Dec 14;22(1):1310. doi: 10.1186/s12885-022-10197-z.
- PMID: 36517748
- PubMed abstract
- The performance of multi-gene panels for breast/ovarian cancer predisposition.
- Nunziato M, Luca Scaglione G, Di Maggio F, Nardelli C, Capoluongo E, Salvatore F.
- Clin Chim Acta. 2022 Dec 12:S0009-8981(22)01409-7. doi: 10.1016/j.cca.2022.12.007. Epub ahead of print.
- PMID: 36521553
- PubMed abstract
- Source abstract
- RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- Evans DG, Woodward ER.
- J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.
- PMID: 36495190
- PubMed abstract
- .sa
- Letter, Commentary
- Free Full Text (PDF)
•• Letter, Reply:
Reply to Evans and Woodward.
- PMID: 36495208
- PubMed abstract
- Source abstract
•• Original research:
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- PMID: 35980168
- PubMed abstract
- Free Full Text
- Clinicopathological features, genetic alterations, and BRCA1 promoter methylation in Japanese male patients with breast cancer.
- Shimomura A, Yoshida M, Kubo T, Yamashita S, Noguchi E, Nagayama A, Hanamura T, Okazaki M, Mukohara T, Tsuruga A, Tanaka K, Kawamura Y, Higuchi T, Takahashi Y, Kurozumi S, Hayashida T, Ichikawa H, Ushijima T, Suto A.
- Breast Cancer Res Treat. 2022 Dec 9. doi: 10.1007/s10549-022-06822-x. Epub ahead of print.
- PMID: 36494460
- PubMed abstract
- Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
- Matsubayashi H, Todaka A, Kawakami T, Hamauchi S, Yokota T, Higashigawa S, Kiyozumi Y, Harada R, Kado N, Nishimura S, Ishiwatari H, Sato J, Niiya F, Ono H, Sugiura T, Sasaki K, Yasui H, Yamazaki K.
- J Hum Genet. 2022 Dec 8. doi: 10.1038/s10038-022-01097-y. Epub ahead of print.
- PMID: 36482120
- PubMed abstract
- Source abstract
- Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
- Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
- EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.
- PMID: 36493725
- PubMed abstract