Research Article
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Investigation of the germline PALB2 variants in cancer patients using the next-generation sequencing in Türkiye

Year 2023, Volume: 9 Issue: 3, 169 - 181, 31.12.2023

Şeref Buğra Tunçer Seda Kılıç Erciyas Özge Şükrüoğlu Erdoğan Betül Çelik Zübeyde Yalnız Kayım Büşra Kurt Gültaşlar

https://doi.org/10.30569/adiyamansaglik.1378620

Abstract

Aim: The study aimed to investigate germline PALB2 gene variants in 1056 cancer patients in Türkiye, selected based on the National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment related to breast, ovarian, and pancreatic cancer.
Materials and Methods: The next-generation sequencing analysis of genomic DNA was performed using a Sophia Hereditary Cancer Solutions Panel for PALB2 gene mutation screening.
Results: The PALB2 genetic variants were detected in 48 patients, including 20 patients with pathogenic or likely pathogenic variants and 28 patients with variants of uncertain significance. The most common PALB2 mutations were the frameshift mutations c.557dupA p.(Asn186Lysfs*4) and c.509_510del p.(Arg170Ilefs*14), found in 0.57% and 0.28% of patients, respectively.
Conclusion: The findings of the study emphasize the importance of PALB2 gene analysis for breast cancer predisposition in Türkiye.

Keywords

PALB2 Germline mutations Hereditary cancer risk factor

Ethical Statement

This study was approved by the Clinical Research Ethics Committee of Istanbul Faculty of Medicine in Istanbul University with the decision number of 2023/500 dated 17.03.2023. The study was in compliance with the Helsinki Declaration.

Supporting Institution

No sponsorship or funding from agencies in the commercial sectors were received for this research.

Thanks

We would like to convey our sincere gratitude to Kadriye Gümüş for the exceptional English editing service and to the Oncology Institute of Istanbul University for their support and resources throughout this study. We are also grateful to all the participants who generously contributed their time and samples to this research. Their involvement was crucial in enabling us to investigate the germline PALB2 mutations in cancer patients in Türkiye. We would also like to acknowledge the invaluable assistance and guidance of our research team members. Their expertise and dedication significantly contributed to the success of this study.

References

  • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017;3(9):1190-1196.
  • Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 2007;11(2):103-105.
  • Ducy M, Sesma-Sanz L, Guitton-Sert L, Lashgari A, Gao Y, Brahiti N, et al. The Tumor Suppressor PALB2: Inside Out. Trends Biochem Sci. 2019;44(3):226-240.
  • Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, et al. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene. 2017;36(29):4161-4170.
  • Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A. 2009;106(17):7155-7160.
  • Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165-167.
  • Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010;78(5):490-494.
  • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkas K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497-506.
  • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440-451.
  • Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet. 2010;11:20.
  • Peterlongo P, Catucci I, Pasquini G, Verderio P, Peissel B, Barile M, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat. 2011;126(3):825-828.
  • Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, et al. NCCN Guidelines(R) Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. J Natl Compr Canc Netw. 2023;21(10):1000-1010.
  • World Medical Association I. Declaration of Helsinki. Ethical principles for medical research involving human subjects. J Indian Med Assoc. 2009;107(6):403-405.
  • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, et al. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018;151(3):481-488.
  • Kinsella RJ, Kahari A, Haider S, Zamora J, Proctor G, Spudich G, et al. Ensembl BioMarts: a hub for data retrieval across taxonomic space. Database (Oxford). 2011;2011:bar030.
  • Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, et al. Evaluating the quality of the 1000 genomes project data. BMC Genomics. 2019;20(1):620.
  • Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, et al. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022;43(8):1012-1030.
  • Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002;12(3):436-446.
  • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7 20.
  • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7(8):575-576.
  • Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062-D1067.
  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, et al. The Human Gene Mutation Database (HGMD((R))): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139(10):1197-1207.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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):405-424.
  • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, et al. Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing. Cancer. 2020;126(14):3202-3208.
  • Haanpaa M, Pylkas K, Moilanen JS, Winqvist R. Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families. BMC Med Genet. 2013;14:82.
  • Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, et al. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet. 2012;20(5):577-579.
  • Song CV, Teo SH, Taib NA, Yip CH. Surgery for BRCA, TP53 and PALB2: a literature review. Ecancermedicalscience. 2018;12:863.
  • Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, et al. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020;38(7):674-685.
  • Pauty J, Couturier AM, Rodrigue A, Caron MC, Coulombe Y, Dellaire G, et al. Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif. Nucleic Acids Res. 2017;45(5):2644-2657.
  • Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS. A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers. J Hum Genet. 2020;65(2):199-205.
  • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, et al. PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Eur J Med Res. 2015;20:85.
  • Tischkowitz M, Balmana J, Foulkes WD, James P, Ngeow J, Schmutzler R, et al. Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(8):1416-1423.
  • Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, et al. Functional characterization of 84 PALB2 variants of uncertain significance. Genet Med. 2020;22(3):622-632.
  • Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, et al. Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene. 2014;33(40):4803-4812.
  • Hu ZY, Liu L, Xie N, Lu J, Liu Z, Tang Y, et al. Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers. Front Genet. 2020;11:829.
  • Deng M, Chen HH, Zhu X, Luo M, Zhang K, Xu CJ, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. Int J Cancer. 2019;145(6):1517-1528.
  • Aksoy F, Tezcan Unlu H, Cecener G, Guney Eskiler G, Egeli U, Tunca B, et al. Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. Hum Hered. 2022.
  • Cecener G, Guney Eskiler G, Egeli U, Tunca B, Alemdar A, Gokgoz S, et al. Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey. Mol Biol Rep. 2016;43(11):1273-1284.
  • Bilen M, Berköz M, YALIN A, Çalıkuşu Z, Eroğlu P, Çömekoğlu Ü, et al. Investigation of effects of PALB2 genetic variations on breast cancer predisposition. Cukurova Medical Journal. 2020;45(1):186-194.
  • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, et al. Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction. Am J Hum Genet. 2022;109(10):1777-1788.
  • Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18(1):15.
  • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, et al. Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients. Cancers (Basel). 2021;13(16).
  • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 2017;123(10):1721-1730.

Türkiye’deki kanser hastalarında kalıtsal PALB2 gen varyantlarının yeni nesil dizileme yöntemiyle araştırılması

Year 2023, Volume: 9 Issue: 3, 169 - 181, 31.12.2023

Şeref Buğra Tunçer Seda Kılıç Erciyas Özge Şükrüoğlu Erdoğan Betül Çelik Zübeyde Yalnız Kayım Büşra Kurt Gültaşlar

https://doi.org/10.30569/adiyamansaglik.1378620

Abstract

Amaç: Çalışmada, meme, yumurtalık ve pankreas kanseri ile ilgili genetik/ailesel yüksek risk değerlendirmesi için Ulusal Kapsamlı Kanser Ağı kılavuzlarına göre seçilen, Türkiye'deki 1056 kanser hastasında germline PALB2 geni varyantlarının araştırılması amaçlandı.
Gereç ve Yöntem: PALB2 geni mutasyon taraması için Sophia Kalıtsal Kanser Çözümleri Paneli kullanılarak genomik DNA'nın yeni nesil dizileme analizi gerçekleştirildi.
Bulgular: PALB2 genetik varyantları, 20 hastada patojenik veya muhtemel patojenik varyant ve 28 hastada belirsiz öneme sahip varyantlara sahip olmak üzere toplam 48 hastada tespit edildi. En yaygın PALB2 mutasyonları, hastaların sırasıyla %0,57 ve %0,28'inde bulunan c.557dupA p.(Asn186Lysfs*4) ve c.509_510del p.(Arg170Ilefs*14) çerçeve kayması mutasyonlarıydı.
Sonuç: Araştırma bulguları, Türkiye'de meme kanseri yatkınlığı açısından PALB2 gen analizinin önemini vurgulamaktadır.

Keywords

PALB2 Germline mutasyonlar Kalıtsal kanser risk faktörü

Ethical Statement

This study was approved by the Clinical Research Ethics Committee of Istanbul Faculty of Medicine in Istanbul University with the decision number of 2023/500 dated 17.03.2023. The study was in compliance with the Helsinki Declaration.

Supporting Institution

No sponsorship or funding from agencies in the commercial sectors were received for this research.

Thanks

We would like to convey our sincere gratitude to Kadriye Gümüş for the exceptional English editing service and to the Oncology Institute of Istanbul University for their support and resources throughout this study. We are also grateful to all the participants who generously contributed their time and samples to this research. Their involvement was crucial in enabling us to investigate the germline PALB2 mutations in cancer patients in Türkiye. We would also like to acknowledge the invaluable assistance and guidance of our research team members. Their expertise and dedication significantly contributed to the success of this study.

References

  • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017;3(9):1190-1196.
  • Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 2007;11(2):103-105.
  • Ducy M, Sesma-Sanz L, Guitton-Sert L, Lashgari A, Gao Y, Brahiti N, et al. The Tumor Suppressor PALB2: Inside Out. Trends Biochem Sci. 2019;44(3):226-240.
  • Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, et al. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene. 2017;36(29):4161-4170.
  • Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A. 2009;106(17):7155-7160.
  • Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165-167.
  • Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010;78(5):490-494.
  • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkas K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497-506.
  • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440-451.
  • Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet. 2010;11:20.
  • Peterlongo P, Catucci I, Pasquini G, Verderio P, Peissel B, Barile M, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat. 2011;126(3):825-828.
  • Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, et al. NCCN Guidelines(R) Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. J Natl Compr Canc Netw. 2023;21(10):1000-1010.
  • World Medical Association I. Declaration of Helsinki. Ethical principles for medical research involving human subjects. J Indian Med Assoc. 2009;107(6):403-405.
  • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, et al. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018;151(3):481-488.
  • Kinsella RJ, Kahari A, Haider S, Zamora J, Proctor G, Spudich G, et al. Ensembl BioMarts: a hub for data retrieval across taxonomic space. Database (Oxford). 2011;2011:bar030.
  • Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, et al. Evaluating the quality of the 1000 genomes project data. BMC Genomics. 2019;20(1):620.
  • Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, et al. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022;43(8):1012-1030.
  • Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002;12(3):436-446.
  • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7 20.
  • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7(8):575-576.
  • Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062-D1067.
  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, et al. The Human Gene Mutation Database (HGMD((R))): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139(10):1197-1207.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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):405-424.
  • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, et al. Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing. Cancer. 2020;126(14):3202-3208.
  • Haanpaa M, Pylkas K, Moilanen JS, Winqvist R. Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families. BMC Med Genet. 2013;14:82.
  • Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, et al. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet. 2012;20(5):577-579.
  • Song CV, Teo SH, Taib NA, Yip CH. Surgery for BRCA, TP53 and PALB2: a literature review. Ecancermedicalscience. 2018;12:863.
  • Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, et al. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020;38(7):674-685.
  • Pauty J, Couturier AM, Rodrigue A, Caron MC, Coulombe Y, Dellaire G, et al. Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif. Nucleic Acids Res. 2017;45(5):2644-2657.
  • Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS. A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers. J Hum Genet. 2020;65(2):199-205.
  • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, et al. PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Eur J Med Res. 2015;20:85.
  • Tischkowitz M, Balmana J, Foulkes WD, James P, Ngeow J, Schmutzler R, et al. Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(8):1416-1423.
  • Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, et al. Functional characterization of 84 PALB2 variants of uncertain significance. Genet Med. 2020;22(3):622-632.
  • Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, et al. Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene. 2014;33(40):4803-4812.
  • Hu ZY, Liu L, Xie N, Lu J, Liu Z, Tang Y, et al. Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers. Front Genet. 2020;11:829.
  • Deng M, Chen HH, Zhu X, Luo M, Zhang K, Xu CJ, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. Int J Cancer. 2019;145(6):1517-1528.
  • Aksoy F, Tezcan Unlu H, Cecener G, Guney Eskiler G, Egeli U, Tunca B, et al. Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. Hum Hered. 2022.
  • Cecener G, Guney Eskiler G, Egeli U, Tunca B, Alemdar A, Gokgoz S, et al. Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey. Mol Biol Rep. 2016;43(11):1273-1284.
  • Bilen M, Berköz M, YALIN A, Çalıkuşu Z, Eroğlu P, Çömekoğlu Ü, et al. Investigation of effects of PALB2 genetic variations on breast cancer predisposition. Cukurova Medical Journal. 2020;45(1):186-194.
  • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, et al. Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction. Am J Hum Genet. 2022;109(10):1777-1788.
  • Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18(1):15.
  • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, et al. Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients. Cancers (Basel). 2021;13(16).
  • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 2017;123(10):1721-1730.
There are 43 citations in total.

Details

Primary Language English
Subjects Cancer Genetics, Cancer Diagnosis
Journal Section Research Article
Authors

Şeref Buğra Tunçer 0000-0001-8023-3223

Seda Kılıç Erciyas 0000-0003-4417-4005

Özge Şükrüoğlu Erdoğan 0000-0002-0893-1251

Betül Çelik 0000-0001-7923-275X

Zübeyde Yalnız Kayım 0000-0002-3137-051X

Büşra Kurt Gültaşlar 0000-0003-4151-7711

Publication Date December 31, 2023
Submission Date October 20, 2023
Acceptance Date December 4, 2023
Published in Issue Year 2023 Volume: 9 Issue: 3

Cite

AMA Tunçer ŞB, Kılıç Erciyas S, Şükrüoğlu Erdoğan Ö, Çelik B, Yalnız Kayım Z, Kurt Gültaşlar B. Investigation of the germline PALB2 variants in cancer patients using the next-generation sequencing in Türkiye. ADYÜ Sağlık Bilimleri Derg. December 2023;9(3):169-181. doi:10.30569/adiyamansaglik.1378620
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