A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman

Background. Breast cancer (BC) is the most common female malignancy worldwide. Partner And Localizer of BRCA2 gene (PALB2) is directly involved in DNA damage response. Germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1...

Full description

Bibliographic Details
Published in:Ecography
Main Authors: P. A. Gervas, A. Yu. Molokov, A. A. Zarubin, A. A. Ivanova, D. G. Tikhonov, N. S. Kipriyanova, A. N. Egorov, L. D. Zhuikova, N. A. Shefer, E. B. Topolnitskiy, V. A. Belyavskaya, L. F. Pisareva, E. L. Choynzonov, N. V. Cherdyntseva, П. А. Гервас, А. Ю. Молоков, А. А. Зарубин, А. A. Иванова, Д. Г. Тихонов, Н. С. Киприянова, А. Н. Егоров, Л. Д. Жуйкова, Н. А. Шефер, Е. Б. Топольницкий, В. А. Белявская, Л. Ф. Писарева, Е. Л. Чойнзонов, Н. В. Чердынцева
Other Authors: The study was funded by the Russian Science Foundation, project № 22-25-20032, The Core Facility «Medical genomics», Tomsk NRMC., Исследование выполнено при финансовой поддержке РНФ, проект № 22-25-20032, Оборудование ЦКП «Медицинская геномика» Томского НИМЦ.
Format: Article in Journal/Newspaper
Language:English
Published: Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences 2022
Subjects:
PALB2
breast cancer
Asian ancestry ethnic groups in Russia
Yakut
рак молочной железы
этносы России азиатского происхождения
якуты
Circumpolar Health
Online Access:https://www.siboncoj.ru/jour/article/view/2235
https://doi.org/10.21294/1814-4861-2022-21-4-72-79
id ftjsjo:oai:oai.oncotomsk.elpub.ru:article/2235
record_format openpolar
institution Open Polar
collection Siberian journal of oncology
op_collection_id ftjsjo
language English
topic PALB2
breast cancer
Asian ancestry ethnic groups in Russia
Yakut
рак молочной железы
этносы России азиатского происхождения
якуты
spellingShingle PALB2
breast cancer
Asian ancestry ethnic groups in Russia
Yakut
рак молочной железы
этносы России азиатского происхождения
якуты
P. A. Gervas
A. Yu. Molokov
A. A. Zarubin
A. A. Ivanova
D. G. Tikhonov
N. S. Kipriyanova
A. N. Egorov
L. D. Zhuikova
N. A. Shefer
E. B. Topolnitskiy
V. A. Belyavskaya
L. F. Pisareva
E. L. Choynzonov
N. V. Cherdyntseva
П. А. Гервас
А. Ю. Молоков
А. А. Зарубин
А. A. Иванова
Д. Г. Тихонов
Н. С. Киприянова
А. Н. Егоров
Л. Д. Жуйкова
Н. А. Шефер
Е. Б. Топольницкий
В. А. Белявская
Л. Ф. Писарева
Е. Л. Чойнзонов
Н. В. Чердынцева
A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
topic_facet PALB2
breast cancer
Asian ancestry ethnic groups in Russia
Yakut
рак молочной железы
этносы России азиатского происхождения
якуты
description Background. Breast cancer (BC) is the most common female malignancy worldwide. Partner And Localizer of BRCA2 gene (PALB2) is directly involved in DNA damage response. Germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1–2% and 3–4%, respectively. The goal of this report was to describe new PALB2 mutation in a young Yakut breast cancer patient with family history of cancer. Material and Methods. Genomic DNA were isolated from blood samples and used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOP HiA GE NETICS , Switzerland), covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Paired-end sequencing (2 × 150 bp) was conducted using NextSeq 500 system (Illumina, USA ). Results. Here we describe a case of a never-before-reported mutation in the PALB2 gene that led to the early onset breast cancer. We report the case of a 39-year-old breast cancer Yakut woman with a family history of pancreatic cancer. Bioinformatics analysis of the NGS data revealed the presence of the new PALB2 gene germinal frameshift deletion (NM_024675:exon1:c.47delA:p.K16fs). In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. Conclusion. We found a new never-before-reported mutation in PALB2 gene, which probably associated with early onset breast cancer in Yakut indigenous women with a family history of pancreatic cancer. Актуальность. Рак молочной железы занимает лидирующие позиции по уровню заболеваемости во всем мире. Ген онкосупрессор PALB2 наряду с такими генами, как BRCA1, BRCA2, вовлечен в процессы репарации поврежденной ДНК. Частота встречаемости ...
author2 The study was funded by the Russian Science Foundation, project № 22-25-20032
The Core Facility «Medical genomics», Tomsk NRMC.
Исследование выполнено при финансовой поддержке РНФ, проект № 22-25-20032
Оборудование ЦКП «Медицинская геномика» Томского НИМЦ.
format Article in Journal/Newspaper
author P. A. Gervas
A. Yu. Molokov
A. A. Zarubin
A. A. Ivanova
D. G. Tikhonov
N. S. Kipriyanova
A. N. Egorov
L. D. Zhuikova
N. A. Shefer
E. B. Topolnitskiy
V. A. Belyavskaya
L. F. Pisareva
E. L. Choynzonov
N. V. Cherdyntseva
П. А. Гервас
А. Ю. Молоков
А. А. Зарубин
А. A. Иванова
Д. Г. Тихонов
Н. С. Киприянова
А. Н. Егоров
Л. Д. Жуйкова
Н. А. Шефер
Е. Б. Топольницкий
В. А. Белявская
Л. Ф. Писарева
Е. Л. Чойнзонов
Н. В. Чердынцева
author_facet P. A. Gervas
A. Yu. Molokov
A. A. Zarubin
A. A. Ivanova
D. G. Tikhonov
N. S. Kipriyanova
A. N. Egorov
L. D. Zhuikova
N. A. Shefer
E. B. Topolnitskiy
V. A. Belyavskaya
L. F. Pisareva
E. L. Choynzonov
N. V. Cherdyntseva
П. А. Гервас
А. Ю. Молоков
А. А. Зарубин
А. A. Иванова
Д. Г. Тихонов
Н. С. Киприянова
А. Н. Егоров
Л. Д. Жуйкова
Н. А. Шефер
Е. Б. Топольницкий
В. А. Белявская
Л. Ф. Писарева
Е. Л. Чойнзонов
Н. В. Чердынцева
author_sort P. A. Gervas
title A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
title_short A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
title_full A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
title_fullStr A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
title_full_unstemmed A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman
title_sort novel germline mutation of the palb2 gene in a young yakut breast cancer woman
publisher Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences
publishDate 2022
url https://www.siboncoj.ru/jour/article/view/2235
https://doi.org/10.21294/1814-4861-2022-21-4-72-79
genre Circumpolar Health
genre_facet Circumpolar Health
op_source Siberian journal of oncology; Том 21, № 4 (2022); 72-79
Сибирский онкологический журнал; Том 21, № 4 (2022); 72-79
2312-3168
1814-4861
10.21294/1814-4861-2022-21-4
op_relation https://www.siboncoj.ru/jour/article/view/2235/1009
Gifoni A.C.L.V.C., Gifoni M.A.C., Wotroba C.M., Palmero E.I., Costa E.L.V., Dos Santos W., Achatz M.I. Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants. Front Oncol. 2022; 12. doi:10.3389/fonc.2022.932957.
Plon S.E., Eccles D.M., Easton D., Foulkes W.D., Genuardi M., Greenblatt M.S., Hogervorst F.B., Hoogerbrugge N., Spurdle A.B., Tavtigian S.V.; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008; 29(11): 1282–91. doi:10.1002/humu.20880.
Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., Voelkerding K., Rehm H.L.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–24. doi:10.1038/gim.2015.30.
Kononova S., Vinokurova D., Barashkov N.A., Semenova A., Sofronova S., Oksana S., Tatiana D., Struchkov V., Burtseva T., Romanova A., Fedorova S. The attitude of young people in the city of Yakutsk to DNA-testing. Int J Circumpolar Health. 2021; 80(1). doi:10.1080/22423982.2021.1973697.
Kirillina M.P., Loskutova K.S., Lushnikova E.L., Nepomnyashchikh L.M. Expression of molecular biological markers in breast cancer under conditions of the Sakha Republic (Yakutia). Bull Exp Biol Med. 2014; 157(5): 623–7. doi:10.1007/s10517-014-2630-x.
Писарева Л.Ф., Одинцова И.Н., Иванов П.М., Николаева Т.И. Особенности заболеваемости раком молочной железы коренного и пришлого населения Республики Саха (Якутия). Сибирский онкологический журнал. 2007; (3): 69–72.
Eccles D.M. Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Ann Oncol. 2004; 15(4): 133–8. doi:10.1093/annonc/mdh917.
Slatko B.E., Gardner A.F., Ausubel F.M. Overview of Next-Generation Sequencing Technologies. Curr Protoc Mol Biol. 2018; 122(1): 59. doi:10.1002/cpmb.59.
Van der Auwera G.A., Carneiro M.O., Hartl C., Poplin R., Del Angel G., Levy-Moonshine A., Jordan T., Shakir K., Roazen D., Thibault J., Banks E., Garimella, K.V., Altshuler D., Gabriel S., DePristo M.A. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline, Curr Protoc Bioinformatics. 2013; 43(1110): 11.10.1–11.10.33. doi:10.1002/0471250953.bi1110s43.
DePristo M.A., Banks E., Poplin R., Garimella K.V., Maguire J.R., Hartl C., Philippakis A.A., del Angel G., Rivas M.A., Hanna M., McKenna A., Fennell T.J., Kernytsky A.M., Sivachenko A.Y., Cibulskis K., Gabriel S.B., Altshuler D., Daly M.J. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature genetics. 2011; 43(5): 491–8. doi:10.1038/ng.806.
McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9): 1297–303. doi:10.1101/gr.107524.110.
Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248–9. doi:10.1038/nmeth0410-248.
Schwarz J.M., Cooper D.N., Schuelke M., Seelow D. Mutation-Taster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4): 361–2. doi:10.1038/nmeth.2890.
Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4(7): 1073–81. doi:10.1038/nprot.2009.86.
Richards C.S., Bale S., Bellissimo D.B., Das S., Grody W.W., Hegde M.R., Lyon E., Ward B.E.; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008; 10(4): 294–300. doi:10.1097/GIM.0b013e31816b5cae.
Hofstatter E.W., Domchek S.M., Miron A., Garber J., Wang M., Componeschi K., Boghossian L., Miron P.L., Nathanson K.L., Tung N. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 2011; 10(2): 225–31. doi:10.1007/s10689-011-9426-1.
Tischkowitz M.D., Sabbaghian N., Hamel N., Borgida A., Rosner C., Taherian N., Srivastava A., Holter S., Rothenmund H., Ghadirian P., Foulkes W.D., Gallinger S. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009; 137(3): 1183–6. doi:10.1053/j.gastro.2009.06.055.
Jones S., Hruban R.H., Kamiyama M., Borges M., Zhang X., Parsons D.W., Lin J.C., Palmisano E., Brune K., Jaffee E.M., Iacobuzio-Donahue C.A., Maitra A., Parmigiani G., Kern S.E., Velculescu V.E., Kinzler K.W., Vogelstein B., Eshleman J.R., Goggins M., Klein A.P. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009; 324(5924): 217. doi:10.1126/science.1171202.
Slater E.P., Langer P., Niemczyk E., Strauch K., Butler J., Habbe N., Neoptolemos J.P., Greenhalf W., Bartsch D.K. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010; 78(5): 490–4. doi:10.1111/j.1399-0004.2010.01425.x.
Hanenberg H., Andreassen P.R. PALB2 (partner and localizer of BRCA2). Atlas Genet Cytogenet Oncol Haematol. 2018; 22(12): 484–90. doi:10.4267/2042/69016.
Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol. 2017; 130(3): 110–26. doi:10.1097/AOG.0000000000002296.
Grellety T., Peyraud F., Sevenet N., Tredan O., Dohollou N., Barouk-Simonet E., Kind M., Longy M., Blay J.Y., Italiano A. Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA. Ann Oncol. 2020; 31(6): 822–3. doi:10.1016/j.annonc.2020.03.283.
https://www.siboncoj.ru/jour/article/view/2235
doi:10.21294/1814-4861-2022-21-4-72-79
op_rights Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
Авторы, публикующие статьи в данном журнале, соглашаются на следующее:Авторы сохраняют за собой автороские права и предоставляют журналу право первой публикации работы, которая по истечении 6 месяцев после публикации автоматически лицензируется на условиях Creative Commons Attribution License , которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access).
op_rightsnorm CC-BY
op_doi https://doi.org/10.21294/1814-4861-2022-21-4-72-79
https://doi.org/10.21294/1814-4861-2022-21-4
https://doi.org/10.3389/fonc.2022.932957
https://doi.org/10.1002/humu.20880
https://doi.org/10.1038/gim.2015.30
https://doi.org/10.1080/22423982.2021
container_title Ecography
container_volume 35
container_issue 9
container_start_page 839
op_container_end_page 854
_version_ 1766390974316019712
spelling ftjsjo:oai:oai.oncotomsk.elpub.ru:article/2235 2023-05-15T15:55:29+02:00 A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman Новая мутация в гене PALB2, ассоциированная с наследственным раком молочной железы у молодой пациентки, принадлежащей к якутской этнической группе P. A. Gervas A. Yu. Molokov A. A. Zarubin A. A. Ivanova D. G. Tikhonov N. S. Kipriyanova A. N. Egorov L. D. Zhuikova N. A. Shefer E. B. Topolnitskiy V. A. Belyavskaya L. F. Pisareva E. L. Choynzonov N. V. Cherdyntseva П. А. Гервас А. Ю. Молоков А. А. Зарубин А. A. Иванова Д. Г. Тихонов Н. С. Киприянова А. Н. Егоров Л. Д. Жуйкова Н. А. Шефер Е. Б. Топольницкий В. А. Белявская Л. Ф. Писарева Е. Л. Чойнзонов Н. В. Чердынцева The study was funded by the Russian Science Foundation, project № 22-25-20032 The Core Facility «Medical genomics», Tomsk NRMC. Исследование выполнено при финансовой поддержке РНФ, проект № 22-25-20032 Оборудование ЦКП «Медицинская геномика» Томского НИМЦ. 2022-09-01 application/pdf https://www.siboncoj.ru/jour/article/view/2235 https://doi.org/10.21294/1814-4861-2022-21-4-72-79 eng eng Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences https://www.siboncoj.ru/jour/article/view/2235/1009 Gifoni A.C.L.V.C., Gifoni M.A.C., Wotroba C.M., Palmero E.I., Costa E.L.V., Dos Santos W., Achatz M.I. Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants. Front Oncol. 2022; 12. doi:10.3389/fonc.2022.932957. Plon S.E., Eccles D.M., Easton D., Foulkes W.D., Genuardi M., Greenblatt M.S., Hogervorst F.B., Hoogerbrugge N., Spurdle A.B., Tavtigian S.V.; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008; 29(11): 1282–91. doi:10.1002/humu.20880. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., Voelkerding K., Rehm H.L.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–24. doi:10.1038/gim.2015.30. Kononova S., Vinokurova D., Barashkov N.A., Semenova A., Sofronova S., Oksana S., Tatiana D., Struchkov V., Burtseva T., Romanova A., Fedorova S. The attitude of young people in the city of Yakutsk to DNA-testing. Int J Circumpolar Health. 2021; 80(1). doi:10.1080/22423982.2021.1973697. Kirillina M.P., Loskutova K.S., Lushnikova E.L., Nepomnyashchikh L.M. Expression of molecular biological markers in breast cancer under conditions of the Sakha Republic (Yakutia). Bull Exp Biol Med. 2014; 157(5): 623–7. doi:10.1007/s10517-014-2630-x. Писарева Л.Ф., Одинцова И.Н., Иванов П.М., Николаева Т.И. Особенности заболеваемости раком молочной железы коренного и пришлого населения Республики Саха (Якутия). Сибирский онкологический журнал. 2007; (3): 69–72. Eccles D.M. Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Ann Oncol. 2004; 15(4): 133–8. doi:10.1093/annonc/mdh917. Slatko B.E., Gardner A.F., Ausubel F.M. Overview of Next-Generation Sequencing Technologies. Curr Protoc Mol Biol. 2018; 122(1): 59. doi:10.1002/cpmb.59. Van der Auwera G.A., Carneiro M.O., Hartl C., Poplin R., Del Angel G., Levy-Moonshine A., Jordan T., Shakir K., Roazen D., Thibault J., Banks E., Garimella, K.V., Altshuler D., Gabriel S., DePristo M.A. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline, Curr Protoc Bioinformatics. 2013; 43(1110): 11.10.1–11.10.33. doi:10.1002/0471250953.bi1110s43. DePristo M.A., Banks E., Poplin R., Garimella K.V., Maguire J.R., Hartl C., Philippakis A.A., del Angel G., Rivas M.A., Hanna M., McKenna A., Fennell T.J., Kernytsky A.M., Sivachenko A.Y., Cibulskis K., Gabriel S.B., Altshuler D., Daly M.J. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature genetics. 2011; 43(5): 491–8. doi:10.1038/ng.806. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9): 1297–303. doi:10.1101/gr.107524.110. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248–9. doi:10.1038/nmeth0410-248. Schwarz J.M., Cooper D.N., Schuelke M., Seelow D. Mutation-Taster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4): 361–2. doi:10.1038/nmeth.2890. Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4(7): 1073–81. doi:10.1038/nprot.2009.86. Richards C.S., Bale S., Bellissimo D.B., Das S., Grody W.W., Hegde M.R., Lyon E., Ward B.E.; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008; 10(4): 294–300. doi:10.1097/GIM.0b013e31816b5cae. Hofstatter E.W., Domchek S.M., Miron A., Garber J., Wang M., Componeschi K., Boghossian L., Miron P.L., Nathanson K.L., Tung N. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 2011; 10(2): 225–31. doi:10.1007/s10689-011-9426-1. Tischkowitz M.D., Sabbaghian N., Hamel N., Borgida A., Rosner C., Taherian N., Srivastava A., Holter S., Rothenmund H., Ghadirian P., Foulkes W.D., Gallinger S. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009; 137(3): 1183–6. doi:10.1053/j.gastro.2009.06.055. Jones S., Hruban R.H., Kamiyama M., Borges M., Zhang X., Parsons D.W., Lin J.C., Palmisano E., Brune K., Jaffee E.M., Iacobuzio-Donahue C.A., Maitra A., Parmigiani G., Kern S.E., Velculescu V.E., Kinzler K.W., Vogelstein B., Eshleman J.R., Goggins M., Klein A.P. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009; 324(5924): 217. doi:10.1126/science.1171202. Slater E.P., Langer P., Niemczyk E., Strauch K., Butler J., Habbe N., Neoptolemos J.P., Greenhalf W., Bartsch D.K. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010; 78(5): 490–4. doi:10.1111/j.1399-0004.2010.01425.x. Hanenberg H., Andreassen P.R. PALB2 (partner and localizer of BRCA2). Atlas Genet Cytogenet Oncol Haematol. 2018; 22(12): 484–90. doi:10.4267/2042/69016. Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol. 2017; 130(3): 110–26. doi:10.1097/AOG.0000000000002296. Grellety T., Peyraud F., Sevenet N., Tredan O., Dohollou N., Barouk-Simonet E., Kind M., Longy M., Blay J.Y., Italiano A. Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA. Ann Oncol. 2020; 31(6): 822–3. doi:10.1016/j.annonc.2020.03.283. https://www.siboncoj.ru/jour/article/view/2235 doi:10.21294/1814-4861-2022-21-4-72-79 Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). Авторы, публикующие статьи в данном журнале, соглашаются на следующее:Авторы сохраняют за собой автороские права и предоставляют журналу право первой публикации работы, которая по истечении 6 месяцев после публикации автоматически лицензируется на условиях Creative Commons Attribution License , которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). CC-BY Siberian journal of oncology; Том 21, № 4 (2022); 72-79 Сибирский онкологический журнал; Том 21, № 4 (2022); 72-79 2312-3168 1814-4861 10.21294/1814-4861-2022-21-4 PALB2 breast cancer Asian ancestry ethnic groups in Russia Yakut рак молочной железы этносы России азиатского происхождения якуты info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 2022 ftjsjo https://doi.org/10.21294/1814-4861-2022-21-4-72-79 https://doi.org/10.21294/1814-4861-2022-21-4 https://doi.org/10.3389/fonc.2022.932957 https://doi.org/10.1002/humu.20880 https://doi.org/10.1038/gim.2015.30 https://doi.org/10.1080/22423982.2021 2022-10-11T16:55:04Z Background. Breast cancer (BC) is the most common female malignancy worldwide. Partner And Localizer of BRCA2 gene (PALB2) is directly involved in DNA damage response. Germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1–2% and 3–4%, respectively. The goal of this report was to describe new PALB2 mutation in a young Yakut breast cancer patient with family history of cancer. Material and Methods. Genomic DNA were isolated from blood samples and used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOP HiA GE NETICS , Switzerland), covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Paired-end sequencing (2 × 150 bp) was conducted using NextSeq 500 system (Illumina, USA ). Results. Here we describe a case of a never-before-reported mutation in the PALB2 gene that led to the early onset breast cancer. We report the case of a 39-year-old breast cancer Yakut woman with a family history of pancreatic cancer. Bioinformatics analysis of the NGS data revealed the presence of the new PALB2 gene germinal frameshift deletion (NM_024675:exon1:c.47delA:p.K16fs). In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. Conclusion. We found a new never-before-reported mutation in PALB2 gene, which probably associated with early onset breast cancer in Yakut indigenous women with a family history of pancreatic cancer. Актуальность. Рак молочной железы занимает лидирующие позиции по уровню заболеваемости во всем мире. Ген онкосупрессор PALB2 наряду с такими генами, как BRCA1, BRCA2, вовлечен в процессы репарации поврежденной ДНК. Частота встречаемости ... Article in Journal/Newspaper Circumpolar Health Siberian journal of oncology Ecography 35 9 839 854

Similar Items