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Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.

Breast cancer research and treatment

Saghatchian M, Abehsera M, Yamgnane A, Geyl C, Gauthier E, Hélin V, Bazire M, Villoing-Gaudé L, Reyes C, Gentien D, Golmard L, Stoppa-Lyonnet D.
PMID: 34994879
Breast Cancer Res Treat. 2022 Jan 07; doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 07.

PURPOSE: A personalized approach to prevention and early detection based on known risk factors should contribute to early diagnosis and treatment of breast cancer. We initiated a risk assessment clinic for all women wishing to undergo an individual breast...

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Saghatchian M, Abehsera M, Yamgnane A, et al. Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic. Breast Cancer Res Treat. 2022;doi: 10.1007/s10549-021-06445-8.
Saghatchian, M., Abehsera, M., Yamgnane, A., Geyl, C., Gauthier, E., Hélin, V., Bazire, M., Villoing-Gaudé, L., Reyes, C., Gentien, D., Golmard, L., & Stoppa-Lyonnet, D. (2022). Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic. Breast cancer research and treatment, . https://doi.org/10.1007/s10549-021-06445-8
Saghatchian, Mahasti, et al. "Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic." Breast cancer research and treatment vol. (2022). doi: https://doi.org/10.1007/s10549-021-06445-8
Saghatchian M, Abehsera M, Yamgnane A, Geyl C, Gauthier E, Hélin V, Bazire M, Villoing-Gaudé L, Reyes C, Gentien D, Golmard L, Stoppa-Lyonnet D. Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic. Breast Cancer Res Treat. 2022 Jan 07; doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 07. PMID: 34994879.
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Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.

European journal of medical genetics

Villy MC, Masliah-Planchon J, Buecher B, Beaulaton C, Vincent-Salomon A, Stoppa-Lyonnet D, Colas C.
PMID: 34775073
Eur J Med Genet. 2021 Nov 11;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11.

The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of...

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Villy MC, Masliah-Planchon J, Buecher B, et al. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2021;65(1):104385doi: 10.1016/j.ejmg.2021.104385.
Villy, M. C., Masliah-Planchon, J., Buecher, B., Beaulaton, C., Vincent-Salomon, A., Stoppa-Lyonnet, D., & Colas, C. (2021). Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. European journal of medical genetics, 65(1), 104385. https://doi.org/10.1016/j.ejmg.2021.104385
Villy, Marie-Charlotte, et al. "Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum." European journal of medical genetics vol. 65,1 (2021): 104385. doi: https://doi.org/10.1016/j.ejmg.2021.104385
Villy MC, Masliah-Planchon J, Buecher B, Beaulaton C, Vincent-Salomon A, Stoppa-Lyonnet D, Colas C. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2021 Nov 11;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11. PMID: 34775073.
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Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant.

Breast (Edinburgh, Scotland)

Brédart A, De Pauw A, Anota A, Tüchler A, Dick J, Müller A, Kop JL, Rhiem K, Schmutzler R, Devilee P, Stoppa-Lyonnet D, Dolbeault S.
PMID: 34455229
Breast. 2021 Aug 23;60:38-44. doi: 10.1016/j.breast.2021.08.011. Epub 2021 Aug 23.

OBJECTIVES: Comprehensive breast cancer (BC) risk models integrating effects of genetic (GRF) and non-genetic risk factors (NGRF) may refine BC prevention recommendations. We explored the perceived information received on BC risk factors, and related characteristics, in female relatives of...

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Brédart A, De Pauw A, Anota A, et al. Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant. Breast. 2021;60:38-44doi: 10.1016/j.breast.2021.08.011.
Brédart, A., De Pauw, A., Anota, A., Tüchler, A., Dick, J., Müller, A., Kop, J. L., Rhiem, K., Schmutzler, R., Devilee, P., Stoppa-Lyonnet, D., & Dolbeault, S. (2021). Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant. Breast (Edinburgh, Scotland), 6038-44. https://doi.org/10.1016/j.breast.2021.08.011
Brédart, Anne, et al. "Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant." Breast (Edinburgh, Scotland) vol. 60 (2021): 38-44. doi: https://doi.org/10.1016/j.breast.2021.08.011
Brédart A, De Pauw A, Anota A, Tüchler A, Dick J, Müller A, Kop JL, Rhiem K, Schmutzler R, Devilee P, Stoppa-Lyonnet D, Dolbeault S. Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant. Breast. 2021 Aug 23;60:38-44. doi: 10.1016/j.breast.2021.08.011. Epub 2021 Aug 23. PMID: 34455229; PMCID: PMC8403756.
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Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Hereditary cancer in clinical practice

Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A.
PMID: 22713736
Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7.

Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5-10 % of all BC cases, and germline mutations in BRCA1...

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Jalkh N, Nassar-Slaba J, Chouery E, et al. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract. 2012;10(1):7doi: 10.1186/1897-4287-10-7.
Jalkh, N., Nassar-Slaba, J., Chouery, E., Salem, N., Uhrchammer, N., Golmard, L., Stoppa-Lyonnet, D., Bignon, Y. J., & Mégarbané, A. (2012). Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hereditary cancer in clinical practice, 10(1), 7. https://doi.org/10.1186/1897-4287-10-7
Jalkh, Nadine, et al. "Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon." Hereditary cancer in clinical practice vol. 10,1 (2012): 7. doi: https://doi.org/10.1186/1897-4287-10-7
Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7. PMID: 22713736; PMCID: PMC3441239.
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Biallelic inactivation of REV7 is associated with Fanconi anemia.

The Journal of clinical investigation

Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, d'Enghien CD, Bluteau O, Cuccuini W, Gachet S, de Latour RP, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J.
PMID: 28248207
J Clin Invest. 2017 Mar 01;127(3):1117. doi: 10.1172/JCI92946. Epub 2017 Mar 01.

No abstract available.

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Bluteau D, Masliah-Planchon J, Clairmont C, et al. Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2017;127(3):1117doi: 10.1172/JCI92946.
Bluteau, D., Masliah-Planchon, J., Clairmont, C., Rousseau, A., Ceccaldi, R., d'Enghien, C. D., Bluteau, O., Cuccuini, W., Gachet, S., de Latour, R. P., Leblanc, T., Socié, G., Baruchel, A., Stoppa-Lyonnet, D., D'Andrea, A. D., & Soulier, J. (2017). Biallelic inactivation of REV7 is associated with Fanconi anemia. The Journal of clinical investigation, 127(3), 1117. https://doi.org/10.1172/JCI92946
Bluteau, Dominique, et al. "Biallelic inactivation of REV7 is associated with Fanconi anemia." The Journal of clinical investigation vol. 127,3 (2017): 1117. doi: https://doi.org/10.1172/JCI92946
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, d'Enghien CD, Bluteau O, Cuccuini W, Gachet S, de Latour RP, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2017 Mar 01;127(3):1117. doi: 10.1172/JCI92946. Epub 2017 Mar 01. PMID: 28248207; PMCID: PMC5330734.
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Co-occurrence of germline .

Journal of medical genetics

Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D.
PMID: 32576655
J Med Genet. 2021 Jun;58(6):357-361. doi: 10.1136/jmedgenet-2020-106972. Epub 2020 Jun 23.

INTRODUCTION: We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in both RESULTS: A large deletion of CONCLUSION: This complex situation is challenging for genetic counselling and management of at-risk...

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Villy MC, Mouret-Fourme E, Golmard L, et al. Co-occurrence of germline . J Med Genet. 2020;58(6):357-361doi: 10.1136/jmedgenet-2020-106972.
Villy, M. C., Mouret-Fourme, E., Golmard, L., Becette, V., Callet, N., Marx, G., Colas, C., Lamarque, D., Rouleau, E., & Stoppa-Lyonnet, D. (2021). Co-occurrence of germline . Journal of medical genetics, 58(6), 357-361. https://doi.org/10.1136/jmedgenet-2020-106972
Villy, Marie-Charlotte, et al. "Co-occurrence of germline ." Journal of medical genetics vol. 58,6 (2021): 357-361. doi: https://doi.org/10.1136/jmedgenet-2020-106972
Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D. Co-occurrence of germline . J Med Genet. 2021 Jun;58(6):357-361. doi: 10.1136/jmedgenet-2020-106972. Epub 2020 Jun 23. PMID: 32576655.
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The Spectrum of .

Cancers

Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P.
PMID: 31991861
Cancers (Basel). 2020 Jan 26;12(2). doi: 10.3390/cancers12020292.

Germline protein truncating variants (PTVs) in the

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Figlioli G, Kvist A, Tham E, et al. The Spectrum of . Cancers (Basel). 2020;12(2)doi: 10.3390/cancers12020292.
Figlioli, G., Kvist, A., Tham, E., Soukupova, J., Kleiblova, P., Muranen, T. A., Andrieu, N., Azzollini, J., Balmaña, J., Barroso, A., Benítez, J., Bertelsen, B., Blanco, A., Bonanni, B., Borg, �. �., Brunet, J., Calistri, D., Calvello, M., Chvojka, S., Cortesi, L., Darder, E., Del Valle, J., Diez, O., Eon-Marchais, S., Fostira, F., Gensini, F., Houdayer, C., Janatova, M., Kiiski, J. I., Konstantopoulou, I., Kubelka-Sabit, K., Lázaro, C., Lesueur, F., Manoukian, S., Marcinkute, R., Mickys, U., Moncoutier, V., Myszka, A., Nguyen-Dumont, T., Nielsen, F. C., Norvilas, R., Olah, E., Osorio, A., Papi, L., Peissel, B., Peixoto, A., Plaseska-Karanfilska, D., Pócza, T., Rossing, M., Rudaitis, V., Santamariña, M., Santos, C., Smichkoska, S., Southey, M. C., Stoppa-Lyonnet, D., Teixeira, M., Törngren, T., Toss, A., Urioste, M., Vega, A., Vlckova, Z., Yannoukakos, D., Zampiga, V., Kleibl, Z., Radice, P., Nevanlinna, H., Ehrencrona, H., Janavicius, R., & Peterlongo, P. (2020). The Spectrum of . Cancers, 12(2), . https://doi.org/10.3390/cancers12020292
Figlioli, Gisella, et al. "The Spectrum of ." Cancers vol. 12,2 (2020). doi: https://doi.org/10.3390/cancers12020292
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. The Spectrum of . Cancers (Basel). 2020 Jan 26;12(2). doi: 10.3390/cancers12020292. PMID: 31991861; PMCID: PMC7073216.
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Non-Coding Variants in .

Cancers

Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
PMID: 30453575
Cancers (Basel). 2018 Nov 16;10(11). doi: 10.3390/cancers10110453.

No abstract available.

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Santana Dos Santos E, Lallemand F, Burke L, et al. Non-Coding Variants in . Cancers (Basel). 2018;10(11)doi: 10.3390/cancers10110453.
Santana Dos Santos, E., Lallemand, F., Burke, L., Stoppa-Lyonnet, D., Brown, M., Caputo, S. M., & Rouleau, E. (2018). Non-Coding Variants in . Cancers, 10(11), . https://doi.org/10.3390/cancers10110453
Santana Dos Santos, Elizabeth, et al. "Non-Coding Variants in ." Cancers vol. 10,11 (2018). doi: https://doi.org/10.3390/cancers10110453
Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E. Non-Coding Variants in . Cancers (Basel). 2018 Nov 16;10(11). doi: 10.3390/cancers10110453. PMID: 30453575; PMCID: PMC6266896.
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Value of the loss of heterozygosity to BRCA1 variant classification.

NPJ breast cancer

Santana Dos Santos E, Spurdle AB, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P, Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Folgueira MAAK, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E.
PMID: 35039532
NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2.

At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. As a typical tumor suppressor gene, the inactivation of the second wild-type...

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Santana Dos Santos E, Spurdle AB, Carraro DM, et al. Value of the loss of heterozygosity to BRCA1 variant classification. NPJ Breast Cancer. 2022;8(1):9doi: 10.1038/s41523-021-00361-2.
Santana Dos Santos, E., Spurdle, A. B., Carraro, D. M., Briaux, A., Southey, M., Torrezan, G., Petitalot, A., Leman, R., Lafitte, P., Meseure, D., Driouch, K., Side, L., Brewer, C., Beck, S., Melville, A., Callaway, A., Revillion, F., Folgueira, M. A. A. K., Parsons, M. T., Thorne, H., Vincent-Salomon, A., Stoppa-Lyonnet, D., Bieche, I., Caputo, S. M., & Rouleau, E. (2022). Value of the loss of heterozygosity to BRCA1 variant classification. NPJ breast cancer, 8(1), 9. https://doi.org/10.1038/s41523-021-00361-2
Santana Dos Santos, Elizabeth, et al. "Value of the loss of heterozygosity to BRCA1 variant classification." NPJ breast cancer vol. 8,1 (2022): 9. doi: https://doi.org/10.1038/s41523-021-00361-2
Santana Dos Santos E, Spurdle AB, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P, Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Folgueira MAAK, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E. Value of the loss of heterozygosity to BRCA1 variant classification. NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2. PMID: 35039532.
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ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing.

Bioinformatics (Oxford, England)

Eeckhoutte A, Houy A, Manié E, Reverdy M, Bièche I, Marangoni E, Goundiam O, Vincent-Salomon A, Stoppa-Lyonnet D, Bidard FC, Stern MH, Popova T.
PMID: 32315385
Bioinformatics. 2020 Jun 01;36(12):3888-3889. doi: 10.1093/bioinformatics/btaa261.

SUMMARY: We introduce shallowHRD, a software tool to evaluate tumor homologous recombination deficiency (HRD) based on whole genome sequencing (WGS) at low coverage (shallow WGS or sWGS; ∼1X coverage). The tool, based on mining copy number alterations profile, implements...

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Eeckhoutte A, Houy A, Manié E, et al. ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing. Bioinformatics. 2020;36(12):3888-3889doi: 10.1093/bioinformatics/btaa261.
Eeckhoutte, A., Houy, A., Manié, E., Reverdy, M., Bièche, I., Marangoni, E., Goundiam, O., Vincent-Salomon, A., Stoppa-Lyonnet, D., Bidard, F. C., Stern, M. H., & Popova, T. (2020). ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing. Bioinformatics (Oxford, England), 36(12), 3888-3889. https://doi.org/10.1093/bioinformatics/btaa261
Eeckhoutte, Alexandre, et al. "ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing." Bioinformatics (Oxford, England) vol. 36,12 (2020): 3888-3889. doi: https://doi.org/10.1093/bioinformatics/btaa261
Eeckhoutte A, Houy A, Manié E, Reverdy M, Bièche I, Marangoni E, Goundiam O, Vincent-Salomon A, Stoppa-Lyonnet D, Bidard FC, Stern MH, Popova T. ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing. Bioinformatics. 2020 Jun 01;36(12):3888-3889. doi: 10.1093/bioinformatics/btaa261. PMID: 32315385; PMCID: PMC7320600.
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Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey.

Journal of community genetics

Brédart A, Kop JL, Antoniou AC, Cunningham AP, De Pauw A, Tischkowitz M, Ehrencrona H, Schmidt MK, Dolbeault S, Rhiem K, Easton DF, Devilee P, Stoppa-Lyonnet D, Schmutlzer R.
PMID: 29508368
J Community Genet. 2019 Jan;10(1):61-71. doi: 10.1007/s12687-018-0362-8. Epub 2018 Mar 05.

The BOADICEA breast cancer (BC) risk assessment model and its associated Web Application v3 (BWA) tool are being extended to incorporate additional genetic and non-genetic BC risk factors. From an online survey through the BOADICEA website and UK, Dutch,...

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Brédart A, Kop JL, Antoniou AC, et al. Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey. J Community Genet. 2018;10(1):61-71doi: 10.1007/s12687-018-0362-8.
Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., De Pauw, A., Tischkowitz, M., Ehrencrona, H., Schmidt, M. K., Dolbeault, S., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D., & Schmutlzer, R. (2019). Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey. Journal of community genetics, 10(1), 61-71. https://doi.org/10.1007/s12687-018-0362-8
Brédart, Anne, et al. "Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey." Journal of community genetics vol. 10,1 (2019): 61-71. doi: https://doi.org/10.1007/s12687-018-0362-8
Brédart A, Kop JL, Antoniou AC, Cunningham AP, De Pauw A, Tischkowitz M, Ehrencrona H, Schmidt MK, Dolbeault S, Rhiem K, Easton DF, Devilee P, Stoppa-Lyonnet D, Schmutlzer R. Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey. J Community Genet. 2019 Jan;10(1):61-71. doi: 10.1007/s12687-018-0362-8. Epub 2018 Mar 05. PMID: 29508368; PMCID: PMC6325038.
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Full in-frame exon 3 skipping of .

Oncotarget

Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
PMID: 29707112
Oncotarget. 2018 Apr 03;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 03.

Germline pathogenic variants in the

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Caputo SM, Léone M, Damiola F, et al. Full in-frame exon 3 skipping of . Oncotarget. 2018;9(25):17334-17348doi: 10.18632/oncotarget.24671.
Caputo, S. M., Léone, M., Damiola, F., Ehlen, A., Carreira, A., Gaidrat, P., Martins, A., Brandão, R. D., Peixoto, A., Vega, A., Houdayer, C., Delnatte, C., Bronner, M., Muller, D., Castera, L., Guillaud-Bataille, M., Søkilde, I., Uhrhammer, N., Demontety, S., Tubeuf, H., Castelain, G., Jensen, U. B., Petitalot, A., Krieger, S., Lefol, C., Moncoutier, V., Boutry-Kryza, N., Nielsen, H. R., Sinilnikova, O., Stoppa-Lyonnet, D., Spurdle, A. B., Teixeira, M. R., Coulet, F., Thomassen, M., & Rouleau, E. (2018). Full in-frame exon 3 skipping of . Oncotarget, 9(25), 17334-17348. https://doi.org/10.18632/oncotarget.24671
Caputo, Sandrine M, et al. "Full in-frame exon 3 skipping of ." Oncotarget vol. 9,25 (2018): 17334-17348. doi: https://doi.org/10.18632/oncotarget.24671
Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E. Full in-frame exon 3 skipping of . Oncotarget. 2018 Apr 03;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 03. PMID: 29707112; PMCID: PMC5915120.
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