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  1. Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes ...

    Authors: Lucie G. Hallenstein, Carol Sorensen, Lorraine Hodgson, Shelly Wen, Justin Westhuyzen, Carmen Hansen, Andrew T. J. Last, Julan V. Amalaseelan, Shehnarz Salindera, William Ross, Allan D. Spigelman, Thomas P. Shakespeare and Noel J. Aherne
    Citation: Hereditary Cancer in Clinical Practice 2021 19:19
  2. Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients en...

    Authors: Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck and Ann-Sofie Backman
    Citation: Hereditary Cancer in Clinical Practice 2021 19:18
  3. Familial clustering of lymphoid and/or hematological malignancies (FHM) provides an opportunity to study the responsible genes. The data is limited in patients with lymphoid and hematological malignancies.

    Authors: Saad Akhtar, M. Shahzad Rauf, Amani Al-Kofide, Mahmoud A. Elshenawy, Ali Hassan Mushtaq and Irfan Maghfoor
    Citation: Hereditary Cancer in Clinical Practice 2021 19:17
  4. The pathogenic BRCA1/2 germline mutations contributed to Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. The features of BRCA1/2 germline mutations in non-small cell lung cancer (NSCLC) have not be...

    Authors: Zheyuan Xu, Yang Wang, Lan Wang, Fengxian Cui, Libin Zhang, Jian Xiong and Hao Peng
    Citation: Hereditary Cancer in Clinical Practice 2021 19:16
  5. In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of multiple cancer-associated genes. However, the clinica...

    Authors: Christa Slaught, Elizabeth G. Berry, Lindsay Bacik, Alison H. Skalet, George Anadiotis, Therese Tuohy and Sancy A. Leachman
    Citation: Hereditary Cancer in Clinical Practice 2021 19:15
  6. Cisplatin, mitomycin C and anthracyclines demonstrate high activity in BRCA1-deficient tumors. This study aimed to evaluate the efficacy of the triplet combination of these drugs in BRCA1-driven high-grade ser...

    Authors: Tatiana V. Gorodnova, Anna P. Sokolenko, Khristina B. Kotiv, Tatiana N. Sokolova, Alexandr O. Ivantsov, Konstantin D. Guseynov, Ekaterina A. Nekrasova, Olga A. Smirnova, Igor V. Berlev and Evgeny N. Imyanitov
    Citation: Hereditary Cancer in Clinical Practice 2021 19:14
  7. Mutations in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Central-Eastern European counties, the founder mutations in the BRCA1 are responsible for a significant proportion ...

    Authors: Alena Savanevich, Olgierd Ashuryk, Cezary Cybulski, Jan Lubiński and Jacek Gronwald
    Citation: Hereditary Cancer in Clinical Practice 2021 19:13
  8. Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported.

    Authors: Caiping Ke, Xiaoshun Shi, Allen Menglin Chen, Chaoming Li, Bifeng Jiang, Kailing Huang, Zhouxia Zheng, Yanhui Liu, Zhuona Chen, Yingjun Luo, Huaming Lin and Jiexia Zhang
    Citation: Hereditary Cancer in Clinical Practice 2021 19:12
  9. Several recent studies in the Baltic region have found extended spectrum of pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the spectrum of the BRCA1/2 PV in population of La...

    Authors: P. Loza, A. Irmejs, Z. Daneberga, E. Miklasevics, E. Berga-Svitina, S. Subatniece, J. Maksimenko, G. Trofimovics, E. Tauvena, S. Ukleikins and J. Gardovskis
    Citation: Hereditary Cancer in Clinical Practice 2021 19:11
  10. The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors f...

    Authors: Abhishek Kumar, Nagarajan Paramasivam, Obul Reddy Bandapalli, Matthias Schlesner, Tianhui Chen, Rolf Sijmons, Dagmara Dymerska, Katarzyna Golebiewska, Magdalena Kuswik, Jan Lubinski, Kari Hemminki and Asta Försti
    Citation: Hereditary Cancer in Clinical Practice 2021 19:10
  11. CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing fo...

    Authors: Mary E. Velthuizen, Rob B. van der Luijt, Beja J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker and Margreet G. E. M. Ausems
    Citation: Hereditary Cancer in Clinical Practice 2021 19:9
  12. 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypecto...

    Authors: Swati G. Patel, Heather Hampel, Derek Smith, Dexiang Gao, Myles Cockburn and Fay Kastrinos
    Citation: Hereditary Cancer in Clinical Practice 2021 19:8
  13. Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burden (TMB-H), with increased likelihood of favorable response to immune ...

    Authors: Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen and Zhi Peng
    Citation: Hereditary Cancer in Clinical Practice 2021 19:7
  14. The role of PALB2 in carcinogenesis remains to be clarified. Our main goal was to determine the prevalence of PALB2 (509_510delGA and 172_175delTTGT) mutations in bladder and kidney cancer patients from Polish po...

    Authors: Elżbieta Złowocka-Perłowska, Tadeusz Dębniak, Marcin Słojewski, Artur Lemiński, Michał Soczawa, Thierry van de Wetering, Joanna Trubicka, Wojciech Kluźniak, Dominika Wokołorczyk, Cezary Cybulski and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2021 19:6
  15. Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2

    Authors: Kodai Abe, Arisa Ueki, Yusaku Urakawa, Minoru Kitago, Tomoko Yoshihama, Yoshiko Nanki, Yuko Kitagawa, Daisuke Aoki, Kenjiro Kosaki and Akira Hirasawa
    Citation: Hereditary Cancer in Clinical Practice 2021 19:5
  16. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Muhammad Usman Rashid, Noor Muhammad, Faiz Ali Khan, Umara Shehzad, Humaira Naeemi, Naila Malkani and Ute Hamann
    Citation: Hereditary Cancer in Clinical Practice 2021 19:4

    The original article was published in Hereditary Cancer in Clinical Practice 2020 18:25

  17. Metaplastic carcinoma of the breast consists of both invasive ductal carcinoma and metaplastic carcinoma. This rare subtype of cancer has a poor prognosis. The development of metaplastic breast cancer and rela...

    Authors: Michiko Yamashita, Yoshiaki Kamei, Akari Murakami, Erina Ozaki, Kumiko Okujima, Kana Takemoto, Megumi Takaoka, Daiki Tsukamoto, Erina Kusakabe, Tomoyuki Shidahara, Haruna Noda, Reina Aoki, Kana Taguchi, Kanako Nishiyama, Mariko Eguchi and Yasutsugu Takada
    Citation: Hereditary Cancer in Clinical Practice 2021 19:3
  18. Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists.

    Authors: Tatiana N. Sokolova, Valeriy V. Breder, Irina S. Shumskaya, Evgeny N. Suspitsin, Svetlana N. Aleksakhina, Grigoriy A. Yanus, Vladislav I. Tiurin, Alexandr O. Ivantsov, Barbara Vona, Grigoriy A. Raskin, Sergey V. Gamajunov and Evgeny N. Imyanitov
    Citation: Hereditary Cancer in Clinical Practice 2021 19:2
  19. Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincident...

    Authors: Ofelia Cruz, Victoria Caloretti, Hector Salvador, Veronica Celis, Vicente Santa-Maria, Andrés Morales La Madrid, Mariona Suñol, Patricia Puerta, Jordi Muchart, Lucas Krauel and Cinzia Lavarino
    Citation: Hereditary Cancer in Clinical Practice 2021 19:1
  20. The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumo...

    Authors: Muhammad Usman Rashid, Noor Muhammad, Faiz Ali Khan, Umara Shehzad, Humaira Naeemi, Naila Malkani and Ute Hamann
    Citation: Hereditary Cancer in Clinical Practice 2020 18:25

    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2021 19:4

  21. Hereditary paraganglioma (PGL) and pheochromocytoma (PCC) syndromes are rare conditions, with limited data on spectrum of causative gene variants of these syndromes in Asian patients.

    Authors: Kay Reen Ting, Pei Yi Ong, Samuel Ow Guan Wei, Rajeev Parameswaran, Chin Meng Khoo, Doddabele Srinivasa Deepak and Soo-Chin Lee
    Citation: Hereditary Cancer in Clinical Practice 2020 18:24
  22. Cutaneous malignancies are rare complications of Lynch syndrome and can include Muir-Torre and Turcot syndromes that are associated with sebaceous gland tumors and keratoacanthomas. The incidence and clinical ...

    Authors: Karam Khaddour, Ryan C. Fields, Michael Ansstas, Ilana S. Rosman and George Ansstas
    Citation: Hereditary Cancer in Clinical Practice 2020 18:23
  23. Identification of one’s status as a BRCA1/2 pathogenic variant carrier often marks the start of navigating challenging decisions related to cancer risk management and result disclosure. Carriers report unmet info...

    Authors: Jeanette Yuen, Si Ming Fung, Chin Leong Sia, Mallika Venkatramani, Tarryn Shaw, Eliza Courtney, Shao-Tzu Li, Jianbang Chiang, Veronique Kiak-Mien Tan, Benita Kiat-Tee Tan and Joanne Ngeow
    Citation: Hereditary Cancer in Clinical Practice 2020 18:22
  24. Central nervous system (CNS) hemangioblastomas (HGBs) are the most frequent cause of mortality in patients with von Hippel-Lindau (VHL) genetic syndrome. However, there is a lack of large studies on the clinic...

    Authors: Zhen Liu, Liang Li, Zhiqiang Yi, Hongzhou Duan, Runchun Lu, Chunwei Li, Lei Li and Kan Gong
    Citation: Hereditary Cancer in Clinical Practice 2020 18:21
  25. Women with a BRCA1 or BRCA2 mutation have high lifetime risks of developing breast and ovarian cancer. The decision to embark on risk reduction strategies is a difficult and personal one. We surveyed an internati...

    Authors: Carol A. Mansfield, Kelly A. Metcalfe, Carrie Snyder, Geoffrey J. Lindeman, Joshua Posner, Sue Friedman, Henry T. Lynch, Steven A. Narod, D. Gareth Evans and Alexander Liede
    Citation: Hereditary Cancer in Clinical Practice 2020 18:20
  26. Individuals who have colorectal or endometrial cancers displaying loss of immunohistochemical staining of one or more mismatch repair proteins without an identifiable causative germline pathogenic variant have...

    Authors: Jessica Omark, Eduardo Vilar, Y Nancy You, Leslie Dunnington, Sarah Noblin, Blair Stevens and Maureen Mork
    Citation: Hereditary Cancer in Clinical Practice 2020 18:19
  27. Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. D...

    Authors: Andreas Andersson, Carolina Hawranek, Anna Öfverholm, Hans Ehrencrona, Kalle Grill, Senada Hajdarevic, Beatrice Melin, Emma Tham, Barbro Numan Hellquist and Anna Rosén
    Citation: Hereditary Cancer in Clinical Practice 2020 18:18
  28. Patients with DNA-damage response genes (DDR)-related pancreas cancer (BRCA1/2 or other DNA-damage related genes) may have improved outcomes secondary to increased sensitivity to DNA-damaging drugs (platinum chem...

    Authors: Sarah K. Macklin-Mantia, Stephanie L. Hines and Pashtoon M. Kasi
    Citation: Hereditary Cancer in Clinical Practice 2020 18:17
  29. Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis. Several singl...

    Authors: Katarzyna Białkowska, Wojciech Marciniak, Magdalena Muszyńska, Piotr Baszuk, Satish Gupta, Katarzyna Jaworska-Bieniek, Grzegorz Sukiennicki, Katarzyna Durda, Tomasz Gromowski, Marcin Lener, Karolina Prajzendanc, Alicja Łukomska, Cezary Cybulski, Tomasz Huzarski, Jacek Gronwald, Tadeusz Dębniak…
    Citation: Hereditary Cancer in Clinical Practice 2020 18:16
  30. When germline mutations are suspected as causal in cancer, patient DNA may be sequenced to detect variants in relevant genes. If a particular mutation has not been reported in reliable family studies, genetic ...

    Authors: Kari Hemminki, Aayushi Srivastava, Sivaramakrishna Rachakonda, Obul Bandapalli, Eduardo Nagore, Akseli Hemminki and Rajiv Kumar
    Citation: Hereditary Cancer in Clinical Practice 2020 18:15
  31. Testing for BRCA variants can impact treatment decisions for breast cancer patients and affect surveillance and prevention strategies for both patients and their relatives. National Comprehensive Cancer Network (...

    Authors: Priyanka Bobbili, Temitope Olufade, Maral DerSarkissian, Rahul Shenolikar, Hong Yu, Mei Sheng Duh and Nadine Tung
    Citation: Hereditary Cancer in Clinical Practice 2020 18:13
  32. In order to further understand genetically predisposing factors of gastric cancer, a retrospective study on 107 patients with gastric cancer was conducted. The family history of cancer cases was registered, in...

    Authors: Johanna Samola Winnberg, Eva Rudd, Anne Keränen, Kristina Lagerstedt-Robinson, Annika Lindblom, Magnus Nilsson, Mats Lindblad and Krister Sjödahl
    Citation: Hereditary Cancer in Clinical Practice 2020 18:12
  33. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Zelmira Ballatore, Raffaella Bracci, Elena Maccaroni, Lucia Svarca, Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Alberto Murrone, Federica Bini, Mirco Pistelli, Giulia Ricci and Rossana Berardi
    Citation: Hereditary Cancer in Clinical Practice 2020 18:11

    The original article was published in Hereditary Cancer in Clinical Practice 2020 18:10

  34. Hereditary non-polyposis colorectal cancer (HNPCC) and Hereditary Breast and Ovarian Cancer Syndrome (HBOC) are the most common hereditary cancer syndromes in which a genetic test is available. Potential risks...

    Authors: Zelmira Ballatore, Raffaella Bracci, Elena Maccaroni, Lucia Svarca, Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Alberto Murrone, Federica Bini, Mirco Pistelli, Giulia Ricci and Rossana Berardi
    Citation: Hereditary Cancer in Clinical Practice 2020 18:10

    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2020 18:11

  35. Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late 2000’s has further accelerated the discovery of many cancer susceptib...

    Authors: Wing Chan, Mianne Lee, Zhen Xuan Yeo, Dingge Ying, Keith A. Grimaldi, Craig Pickering, Michael M. S. Yang, Senthil K. Sundaram and Lawrence C. H. Tzang
    Citation: Hereditary Cancer in Clinical Practice 2020 18:9
  36. We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi...

    Authors: Malene Djursby, Karin Wadt, Jane Hübertz Frederiksen, Majbritt Busk Madsen, Lukas Adrian Berchtold, Jane Preuss Hasselby, Gro Linno Willemoe, Thomas v. O. Hansen and Anne-Marie Gerdes
    Citation: Hereditary Cancer in Clinical Practice 2020 18:8
  37. In a patient with a germline BRCA2 pathogenic variant with breast cancer, an adnexal mass can represent either a metachronous primary tumor or a metastasis of the breast cancer. A clear distinction between those ...

    Authors: Lučka Boltežar, Gorana Gašljević, Srdjan Novaković, Vida Stegel and Erik Škof
    Citation: Hereditary Cancer in Clinical Practice 2020 18:7
  38. Women with pathogenic germline gene variants in BRCA1 and/or BRCA2 are at increased risk of developing ovarian and breast cancer. While surgical and pharmacological approaches are effective for risk-reduction, it...

    Authors: Adriana M. Coletta, Susan K. Peterson, Leticia A. Gatus, Kate J. Krause, Susan M. Schembre, Susan C. Gilchrist, Banu Arun, Y. Nancy You, Miguel A. Rodriguez-Bigas, Larkin L. Strong, Karen H. Lu and Karen Basen-Engquist
    Citation: Hereditary Cancer in Clinical Practice 2020 18:5
  39. Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenot...

    Authors: Marcia Roxana Cruz-Correa, Ana Cecilia Sala, Beatriz Cintrón, Jessica Hernández, Myrta Olivera, Adrian Cora, Constance M. Moore, Carlos A. Luciano, Marievelisse Soto-Salgado, Francis M. Giardiello and Stephen R. Hooper
    Citation: Hereditary Cancer in Clinical Practice 2020 18:4
  40. Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is lim...

    Authors: Jaclyn Hynes, Andrée MacMillan, Sara Fernandez, Karen Jacob, Shannon Carter, Sarah Predham, Holly Etchegary and Lesa Dawson
    Citation: Hereditary Cancer in Clinical Practice 2020 18:3
  41. The current guidelines in Sweden regarding individuals with a clinically actionable (i.e. pathogenic or likely pathogenic) germline TP53 variant recommend patients to take part of the national Swedish P53 Study (...

    Authors: Meis Omran, Lennart Blomqvist, Yvonne Brandberg, Niklas Pal, Per Kogner, Anne Kinhult Ståhlbom, Emma Tham and Svetlana Bajalica-Lagercrantz
    Citation: Hereditary Cancer in Clinical Practice 2020 18:1
  42. Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between seleniu...

    Authors: Steven A. Narod, Tomasz Huzarski, Anna Jakubowska, Jacek Gronwald, Cezary Cybulski, Oleg Oszurek, Tadeusz Dębniak, Katarzyna Jaworska-Bieniek, Marcin Lener, Katarzyna Białkowska, Grzegorz Sukiennicki, Magdalena Muszyńska, Wojciech Marciniak, Ping Sun, Joanne Kotsopoulos and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2019 17:33
  43. Genetic testing for hereditary cancer syndromes has been revolutionized by next-generation sequencing, which allows for simultaneous review of numerous genes. Multigene panels are regularly offered to patients...

    Authors: Kristin E. Clift, Sarah K. Macklin and Stephanie L. Hines
    Citation: Hereditary Cancer in Clinical Practice 2019 17:32
  44. Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare o...

    Authors: Kathleen F. Mittendorf, Jessica Ezzell Hunter, Jennifer L. Schneider, Elizabeth Shuster, Alan F. Rope, Jamilyn Zepp, Marian J. Gilmore, Kristin R. Muessig, James V. Davis, Tia L. Kauffman, Kellene M. Bergen, Georgia L. Wiesner, Louise S. Acheson, Susan K. Peterson, Sapna Syngal, Jacob A. Reiss…
    Citation: Hereditary Cancer in Clinical Practice 2019 17:31
  45. Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk individuals is hoped to improve survival outcomes by detection of precursor lesions or early-stage ...

    Authors: Tanya Dwarte, Skye McKay, Amber Johns, Katherine Tucker, Allan D. Spigelman, David Williams and Alina Stoita
    Citation: Hereditary Cancer in Clinical Practice 2019 17:30
  46. Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants ...

    Authors: Muhammad Usman Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Jan Lubiński, Anna Jakubowska and Muhammed Aasim Yusuf
    Citation: Hereditary Cancer in Clinical Practice 2019 17:29
  47. We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 ye...

    Authors: Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra…
    Citation: Hereditary Cancer in Clinical Practice 2019 17:28

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