Category: All HBOC

LitAlert ~~ GeneLit.com

    • 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. 2023 Jan 1;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • 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 S, 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 CE, 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. 2023 Jan 1;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.

    • Lessons learned with a longer follow-up from SOLO 1.
    • Paulino E.
    • J Gynecol Oncol. 2023 Jan;34:e29. doi: 10.3802/jgo.2023.34.e29. Epub 2022 Dec 7.

    • Evaluation of external validity of the OVHIPEC-1 trial in a real-world population.
    • van Stein RM, Sikorska K, van der Aa MA, Sonke GS, van Driel WJ; Dutch OVHIPEC-1 trial group.
    • Int J Gynaecol Obstet. 2022 Dec 10. doi: 10.1002/ijgo.14618. Epub ahead of print.

    • 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.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • 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.

    • CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
    • Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, Wilcox N, Dadaev T, Govindasami K, Lush M, Leslie G, Lophatananon A, Muir K, Bancroft E, Easton DF, Tischkowitz M, Kote-Jarai Z, Eeles R, Antoniou AC.
    • J Clin Oncol. 2022 Dec 9:JCO2201453. doi: 10.1200/JCO.22.01453. Epub ahead of print.

    • BRCA1 deficiency in triple-negative breast cancer: Protein stability as a basis for therapy.
    • Choi E, Mun GI, Lee J, Lee H, Cho J, Lee YS.
    • Biomed Pharmacother. 2022 Dec 6;158:114090. doi: 10.1016/j.biopha.2022.114090. Epub ahead of print.

    • 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.

    • The BRCAness Landscape of Cancer.
    • Guo M, Wang SM.
    • Cells. 2022 Dec 1;11(23):3877. doi: 10.3390/cells11233877.

    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.

    • Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability.
    • Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, Zhang X, Lu X, Zhu C, Dong H, Yang S, Wu X, Chen X.
    • BJOG. 2022 Nov;129 Suppl 2:14-22. doi: 10.1111/1471-0528.17324.

    • The first Chinese National Union of Real-world Gynaecological Oncology Research and Patient Management Platform: A retrospective study.
    • Zeng S, Chi J, Liu J, Jiao X, Liu X, Yu Y, Li R, Huo Y, Ma G, Zhao Y, Wang L, Zhou Q, Zou D, Cheng X, Li Q, Wang J, Yao S, Zhao W, Xia B, Chen Y, Fan J, Wang W, Hong L, Guo R, Liu Z, Gao Y, Li J, Zhang B, Yu J, Hu T, Zhang W, Shan W, Peng Z, Li M, Xie X, Ma D, Gao Q.
    • BJOG. 2022 Nov;129 Suppl 2:60-69. doi: 10.1111/1471-0528.17328.

    • LitAlert ~~ GeneLit.com

    • 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. 2023 Jan 1;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • 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 S, 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 CE, 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. 2023 Jan 1;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.

    • Lessons learned with a longer follow-up from SOLO 1.
    • Paulino E.
    • J Gynecol Oncol. 2023 Jan;34:e29. doi: 10.3802/jgo.2023.34.e29. Epub 2022 Dec 7.

    • Evaluation of external validity of the OVHIPEC-1 trial in a real-world population.
    • van Stein RM, Sikorska K, van der Aa MA, Sonke GS, van Driel WJ; Dutch OVHIPEC-1 trial group.
    • Int J Gynaecol Obstet. 2022 Dec 10. doi: 10.1002/ijgo.14618. Epub ahead of print.

    • 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.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • 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.

    • CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
    • Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, Wilcox N, Dadaev T, Govindasami K, Lush M, Leslie G, Lophatananon A, Muir K, Bancroft E, Easton DF, Tischkowitz M, Kote-Jarai Z, Eeles R, Antoniou AC.
    • J Clin Oncol. 2022 Dec 9:JCO2201453. doi: 10.1200/JCO.22.01453. Epub ahead of print.

    • BRCA1 deficiency in triple-negative breast cancer: Protein stability as a basis for therapy.
    • Choi E, Mun GI, Lee J, Lee H, Cho J, Lee YS.
    • Biomed Pharmacother. 2022 Dec 6;158:114090. doi: 10.1016/j.biopha.2022.114090. Epub ahead of print.

    • 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.

    • The BRCAness Landscape of Cancer.
    • Guo M, Wang SM.
    • Cells. 2022 Dec 1;11(23):3877. doi: 10.3390/cells11233877.

    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.

    • Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability.
    • Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, Zhang X, Lu X, Zhu C, Dong H, Yang S, Wu X, Chen X.
    • BJOG. 2022 Nov;129 Suppl 2:14-22. doi: 10.1111/1471-0528.17324.

    • The first Chinese National Union of Real-world Gynaecological Oncology Research and Patient Management Platform: A retrospective study.
    • Zeng S, Chi J, Liu J, Jiao X, Liu X, Yu Y, Li R, Huo Y, Ma G, Zhao Y, Wang L, Zhou Q, Zou D, Cheng X, Li Q, Wang J, Yao S, Zhao W, Xia B, Chen Y, Fan J, Wang W, Hong L, Guo R, Liu Z, Gao Y, Li J, Zhang B, Yu J, Hu T, Zhang W, Shan W, Peng Z, Li M, Xie X, Ma D, Gao Q.
    • BJOG. 2022 Nov;129 Suppl 2:60-69. doi: 10.1111/1471-0528.17328.

    • LitAlert ~~ GeneLit.com

    • 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. 2023 Jan 1;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • 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 S, 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 CE, 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. 2023 Jan 1;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.

    • Lessons learned with a longer follow-up from SOLO 1.
    • Paulino E.
    • J Gynecol Oncol. 2023 Jan;34:e29. doi: 10.3802/jgo.2023.34.e29. Epub 2022 Dec 7.

    • Evaluation of external validity of the OVHIPEC-1 trial in a real-world population.
    • van Stein RM, Sikorska K, van der Aa MA, Sonke GS, van Driel WJ; Dutch OVHIPEC-1 trial group.
    • Int J Gynaecol Obstet. 2022 Dec 10. doi: 10.1002/ijgo.14618. Epub ahead of print.

    • 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.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • 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.

    • CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
    • Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, Wilcox N, Dadaev T, Govindasami K, Lush M, Leslie G, Lophatananon A, Muir K, Bancroft E, Easton DF, Tischkowitz M, Kote-Jarai Z, Eeles R, Antoniou AC.
    • J Clin Oncol. 2022 Dec 9:JCO2201453. doi: 10.1200/JCO.22.01453. Epub ahead of print.

    • BRCA1 deficiency in triple-negative breast cancer: Protein stability as a basis for therapy.
    • Choi E, Mun GI, Lee J, Lee H, Cho J, Lee YS.
    • Biomed Pharmacother. 2022 Dec 6;158:114090. doi: 10.1016/j.biopha.2022.114090. Epub ahead of print.

    • 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.

    • The BRCAness Landscape of Cancer.
    • Guo M, Wang SM.
    • Cells. 2022 Dec 1;11(23):3877. doi: 10.3390/cells11233877.

    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.

    • Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability.
    • Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, Zhang X, Lu X, Zhu C, Dong H, Yang S, Wu X, Chen X.
    • BJOG. 2022 Nov;129 Suppl 2:14-22. doi: 10.1111/1471-0528.17324.

    • The first Chinese National Union of Real-world Gynaecological Oncology Research and Patient Management Platform: A retrospective study.
    • Zeng S, Chi J, Liu J, Jiao X, Liu X, Yu Y, Li R, Huo Y, Ma G, Zhao Y, Wang L, Zhou Q, Zou D, Cheng X, Li Q, Wang J, Yao S, Zhao W, Xia B, Chen Y, Fan J, Wang W, Hong L, Guo R, Liu Z, Gao Y, Li J, Zhang B, Yu J, Hu T, Zhang W, Shan W, Peng Z, Li M, Xie X, Ma D, Gao Q.
    • BJOG. 2022 Nov;129 Suppl 2:60-69. doi: 10.1111/1471-0528.17328.

    • LitAlert ~~ GeneLit.com

    • 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. 2023 Jan 1;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • 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 S, 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 CE, 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. 2023 Jan 1;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.

    • Lessons learned with a longer follow-up from SOLO 1.
    • Paulino E.
    • J Gynecol Oncol. 2023 Jan;34:e29. doi: 10.3802/jgo.2023.34.e29. Epub 2022 Dec 7.

    • 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.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • 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.

    • CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
    • Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, Wilcox N, Dadaev T, Govindasami K, Lush M, Leslie G, Lophatananon A, Muir K, Bancroft E, Easton DF, Tischkowitz M, Kote-Jarai Z, Eeles R, Antoniou AC.
    • J Clin Oncol. 2022 Dec 9:JCO2201453. doi: 10.1200/JCO.22.01453. Epub ahead of print.

    • BRCA1 deficiency in triple-negative breast cancer: Protein stability as a basis for therapy.
    • Choi E, Mun GI, Lee J, Lee H, Cho J, Lee YS.
    • Biomed Pharmacother. 2022 Dec 6;158:114090. doi: 10.1016/j.biopha.2022.114090. Epub ahead of print.

    • 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.

    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.

    • Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability.
    • Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, Zhang X, Lu X, Zhu C, Dong H, Yang S, Wu X, Chen X.
    • BJOG. 2022 Nov;129 Suppl 2:14-22. doi: 10.1111/1471-0528.17324.

    • The first Chinese National Union of Real-world Gynaecological Oncology Research and Patient Management Platform: A retrospective study.
    • Zeng S, Chi J, Liu J, Jiao X, Liu X, Yu Y, Li R, Huo Y, Ma G, Zhao Y, Wang L, Zhou Q, Zou D, Cheng X, Li Q, Wang J, Yao S, Zhao W, Xia B, Chen Y, Fan J, Wang W, Hong L, Guo R, Liu Z, Gao Y, Li J, Zhang B, Yu J, Hu T, Zhang W, Shan W, Peng Z, Li M, Xie X, Ma D, Gao Q.
    • BJOG. 2022 Nov;129 Suppl 2:60-69. doi: 10.1111/1471-0528.17328.

    • LitAlert ~~ GeneLit.com

    • Providers' perspectives on the reproductive decision-making of BRCA-positive women.
    • Dason ES, Drost L, Greenblatt EM, Scheer AS, Han J, Sobel M, Allen L, Jacobson M, Doshi T, Wolff E, McMahon E, Jones CA.
    • BMC Womens Health. 2022 Dec 8;22(1):506. doi: 10.1186/s12905-022-02093-2.

    • Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10.
    • Kristeleit RS, Drew Y, Oza AM, Domchek SM, Banerjee S, Glasspool RM, Balmaña J, Chen LM, Patel MR, Burris HA, Safra T, Borrow J, Lin KK, Goble S, Maloney L, Shapira-Frommer R.
    • Br J Cancer. 2022 Dec 8. doi: 10.1038/s41416-022-02022-y. Epub ahead of print.

    • Second-line therapy in pancreatic ductal adenocarcinoma (PDAC) patients with germline BRCA1-2 pathogenic variants (gBRCA1-2pv).
    • Orsi G, Cavaliere A, Tortora G, Lonardi S, Macchini M, Di Marco M, Giordano G, Vasile E, Scartozzi M, Bozzarelli S, Noventa S, Rodriquenz MG, Militello AM, Rapposelli IG, Garajova I, De Lorenzo S, Merelli B, Bittoni A, Salvatore L, Procaccio L, Paratore C, Spallanzani A, Peretti U, Niger M, Giommoni E, Bernardini I, Tamburini E, Bernardino K, Forti L, Valente MM, Cascinu S, Milella M, Reni M.
    • Br J Cancer. 2022 Dec 8. doi: 10.1038/s41416-022-02086-w. Epub ahead of print.

    • 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.

    • BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
    • Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y.
    • J Clin Oncol. 2022 Dec 8:JCO2200833. doi: 10.1200/JCO.22.00833. Epub ahead of print.

    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
    • Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
    • Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
    • Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y.
    • J Clin Oncol. 2022 Dec 8:JCO2200833. doi: 10.1200/JCO.22.00833. Epub ahead of print.

    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
    • Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
    • Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Is Sentinel Lymph Node Biopsy Necessary in Patients who Undergo Prophylactic Mastectomy?
    • Madan V, Mamounas EP.
    • Clin Breast Cancer. 2022 Dec 7:S1526-8209(22)00271-3. doi: 10.1016/j.clbc.2022.12.003. Epub ahead of print.

    • Patient-reported outcomes associated with reflex BRCA1/2 tumor and subsequent germline panel genetic testing for high-grade serous ovarian cancer.
    • McCuaig JM, Stockley TL, Ferguson SE, Vicus D, Brennenstuhl S, Ott K, Kim RH, Metcalfe KA.
    • J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1661. Epub ahead of print.

    • Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
    • Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL.
    • J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1665. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Detection of BRCA1, and BRCA2 in Matched Tumor Tissue and Circulating Cell-Free DNA in Patients with Prostate Cancer in a Real-World Setting.
    • McFarland TR, Thomas VM, Nussenzveig R, Gebrael G, Sayegh N, Tripathi N, Sahu KK, Goel D, Maughan BL, Sirohi D, Agarwal N, Swami U.
    • Biomedicines. 2022 Dec 7;10(12):3170. doi: 10.3390/biomedicines10123170.

    • Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?
    • Ain Q, Richardson C, Mutebi M, George A, Kemp Z, Rusby JE.
    • Breast. 2022 Dec 6:S0960-9776(22)00193-X. doi: 10.1016/j.breast.2022.12.001. Epub ahead of print.

    • Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience.
    • Cassani C, Rossi C, Camnasio CA, Urtis M, Fiandrino G, Grasso M, Zanellini F, Lucioni M, D’Ambrosio G, Di Toro A, Rossi M, Roccio M, Ferrari A, Secondino S, Nappi RE, Arbustini E, Paulli M, Spinillo A, Cesari S.
    • Diagnostics (Basel). 2022 Dec 6;12(12):3054. doi: 10.3390/diagnostics12123054.

    • A Single Variant in Pri-miRNA-155 Associated with Susceptibility to Hereditary Breast Cancer Promotes Aggressiveness in Breast Cancer Cells.
    • Landeros N, Gonzalez-Hormazabal P, Pérez-Moreno P, Tapia JC, Jara L.
    • Int J Mol Sci. 2022 Dec 6;23(23):15418. doi: 10.3390/ijms232315418.

    • Non-parametric estimation of the age-at-onset distribution from a cross-sectional sample.
    • Mandal S, Qin J, Pfeiffer RM.
    • Biometrics. 2022 Dec 5. doi: 10.1111/biom.13804. Epub ahead of print.

    • Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
    • Sivakumar S, Jin DX, Tukachinsky H, Murugesan K, McGregor K, Danziger N, Pavlick D, Gjoerup O, Ross JS, Harmon R, Chung J, Decker B, Dennis L, Frampton GM, Molinero L, Oesterreich S, Venstrom JM, Oxnard GR, Hegde PS, Sokol ES.
    • Nat Commun. 2022 Dec 5;13(1):7495. doi: 10.1038/s41467-022-35245-x.

    • Targeting DNA damage response pathways in cancer.
    • Groelly FJ, Fawkes M, Dagg RA, Blackford AN, Tarsounas M.
    • Nat Rev Cancer. 2022 Dec 5. doi: 10.1038/s41568-022-00535-5. Epub ahead of print.
    • Review

    • CHEK2 Pathogenic Germline Variants in Patients With NSCLC.
    • Sorscher S.
    • JTO Clin Res Rep. 2022 Nov 19 [eCollection 2022 Dec];3(12):100439. doi: 10.1016/j.jtocrr.2022.100439.

    Related:

    •• Original research:

    A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.

    • LitAlert ~~ GeneLit.com

    • Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?
    • Ain Q, Richardson C, Mutebi M, George A, Kemp Z, Rusby JE.
    • Breast. 2022 Dec 6:S0960-9776(22)00193-X. doi: 10.1016/j.breast.2022.12.001. Epub ahead of print.

    • Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience.
    • Cassani C, Rossi C, Camnasio CA, Urtis M, Fiandrino G, Grasso M, Zanellini F, Lucioni M, D’Ambrosio G, Di Toro A, Rossi M, Roccio M, Ferrari A, Secondino S, Nappi RE, Arbustini E, Paulli M, Spinillo A, Cesari S.
    • Diagnostics (Basel). 2022 Dec 6;12(12):3054. doi: 10.3390/diagnostics12123054.

    • A Single Variant in Pri-miRNA-155 Associated with Susceptibility to Hereditary Breast Cancer Promotes Aggressiveness in Breast Cancer Cells.
    • Landeros N, Gonzalez-Hormazabal P, Pérez-Moreno P, Tapia JC, Jara L.
    • Int J Mol Sci. 2022 Dec 6;23(23):15418. doi: 10.3390/ijms232315418.

    • Non-parametric estimation of the age-at-onset distribution from a cross-sectional sample.
    • Mandal S, Qin J, Pfeiffer RM.
    • Biometrics. 2022 Dec 5. doi: 10.1111/biom.13804. Epub ahead of print.

    • Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
    • Sivakumar S, Jin DX, Tukachinsky H, Murugesan K, McGregor K, Danziger N, Pavlick D, Gjoerup O, Ross JS, Harmon R, Chung J, Decker B, Dennis L, Frampton GM, Molinero L, Oesterreich S, Venstrom JM, Oxnard GR, Hegde PS, Sokol ES.
    • Nat Commun. 2022 Dec 5;13(1):7495. doi: 10.1038/s41467-022-35245-x.

    • Targeting DNA damage response pathways in cancer.
    • Groelly FJ, Fawkes M, Dagg RA, Blackford AN, Tarsounas M.
    • Nat Rev Cancer. 2022 Dec 5. doi: 10.1038/s41568-022-00535-5. Epub ahead of print.
    • Review

    • CHEK2 Pathogenic Germline Variants in Patients With NSCLC.
    • Sorscher S.
    • JTO Clin Res Rep. 2022 Nov 19 [eCollection 2022 Dec];3(12):100439. doi: 10.1016/j.jtocrr.2022.100439.

    Related:

    •• Original research:

    A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.

    • LitAlert ~~ GeneLit.com

    • Insurance Coverage of Prophylactic Mastectomies: A National Review of the United States.
    • Ha M, Ngaage LM, Finkelstein ER, Klein M, Yang A, Colohan SM, Nurudeen SM, Terhune JH, Slezak S, Rasko YM.
    • Clin Breast Cancer. 2022 Dec 5:S1526-8209(22)00269-5. doi: 10.1016/j.clbc.2022.12.001. Epub ahead of print.

    • Hereditary breast cancer: syndromes, tumour pathology and molecular testing.
    • Sokolova A, Johnstone KJ, McCart Reed AE, Simpson PT, Lakhani SR.
    • Histopathology. 2022 Dec 5. doi: 10.1111/his.14808. Epub ahead of print.

    • The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
    • Wagener R, Walter C, Auer F, Alzoubi D, Hauer J, Fischer U, Varghese J, Dugas M, Borkhardt A, Brozou T.
    • Int J Cancer. 2022 Dec 5. doi: 10.1002/ijc.34390. Epub ahead of print.

    • Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer.
    • Hunter CL, Helft PR.
    • J Clin Oncol. 2022 Dec 5:JCO2200796. doi: 10.1200/JCO.22.00796. Epub ahead of print.