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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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

  19. 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

  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. Pathogenic germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine the spectrum of BRCA1/2 mutations and to accurately estimate th...

    Authors: Muhammad Usman Rashid, Noor Muhammad, Humaira Naeemi, Faiz Ali Khan, Mariam Hassan, Saima Faisal, Sidra Gull, Asim Amin, Asif Loya and Ute Hamann
    Citation: Hereditary Cancer in Clinical Practice 2019 17:27
  34. The Familial Bowel Cancer Service at The Royal Melbourne Hospital was started in 1980 in order to offer bowel cancer screening services to those felt to be at a higher risk of CRC due to their family history, ...

    Authors: Jennifer Pan, Masha Slattery, Natalie Shea and Finlay Macrae
    Citation: Hereditary Cancer in Clinical Practice 2019 17:25
  35. Lynch syndrome, a hereditary cancer syndrome, predisposes women to colorectal, endometrial, and ovarian cancer. Current guidelines recommend that women with Lynch syndrome undergo risk-reducing gynecological s...

    Authors: Kaitlin M. McGarragle, Melyssa Aronson, Kara Semotiuk, Spring Holter, Crystal J. Hare, Sarah E. Ferguson, Zane Cohen and Tae L. Hart
    Citation: Hereditary Cancer in Clinical Practice 2019 17:24
  36. Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) defici...

    Authors: Sergio Carrera, Elena Beristain, Aintzane Sancho, Eluska Iruarrizaga, Pilar Rivero, Juan Manuel Mañe and Guillermo López Vivanco
    Citation: Hereditary Cancer in Clinical Practice 2019 17:23
  37. Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. Affected patients develop central nervous system hemangioblastomas and abdominal tumors, among other lesions. Patients under...

    Authors: Anne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, Vera Van Velthoven, Robert Kuijpers, Olaf Michel, Ina Foulon, Anna C. Jansen, Bieke Lefevere, Susanne Bohler, Kathelijn Keymolen, Johan de Mey, Dirk Michielsen, Corina E. Andreescu and Sven Gläsker
    Citation: Hereditary Cancer in Clinical Practice 2019 17:22
  38. BRCA phenocopies are individuals with the same phenotype (i.e. cancer consistent with Hereditary Breast and Ovarian Cancer syndrome = HBOC) as their affected relatives, but not the same genotype as assessed by bl...

    Authors: Lela Buckingham, Rachel Mitchell, Mark Maienschein-Cline, Stefan Green, Vincent Hong Hu, Melody Cobleigh, Jacob Rotmensch, Kelly Burgess and Lydia Usha
    Citation: Hereditary Cancer in Clinical Practice 2019 17:21
  39. The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of...

    Authors: Carolina Cortés, Ana Lucía Rivera, David Trochez, Melissa Solarte, Daniela Gómez, Laura Cifuentes and Guillermo Barreto
    Citation: Hereditary Cancer in Clinical Practice 2019 17:20
  40. Genes in the homologous recombination pathway have shown varying results in the literature regarding ovarian cancer (OC) association. Recent case-control studies have used allele counts alone to quantify genet...

    Authors: Kevin J. Arvai, Maegan E. Roberts, Rebecca I. Torene, Lisa R. Susswein, Megan L. Marshall, Zhancheng Zhang, Natalie J. Carter, Lauren Yackowski, Erica S. Rinella, Rachel T. Klein, Kathleen S. Hruska and Kyle Retterer
    Citation: Hereditary Cancer in Clinical Practice 2019 17:19
  41. Colorectal cancer (CRC) and inflammatory bowel disease (IBD) are the most prevalent diseases of the digestive system, and their association is unequivocal. A long-standing inflammatory process is one of the ca...

    Authors: Andrzej Hnatyszyn, Szymon Hryhorowicz, Marta Kaczmarek-Ryś, Emilia Lis, Ryszard Słomski, Rodney J. Scott and Andrzej Pławski
    Citation: Hereditary Cancer in Clinical Practice 2019 17:18
  42. Large-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the PALB2 and RECQL genes. Some of these were reported as founder variants of Central and Eastern Europ...

    Authors: Philip Hilz, Reicela Heinrihsone, Lukas Alexander Pätzold, Qi Qi, Genadijs Trofimovics, Linda Gailite, Arvids Irmejs, Janis Gardovskis, Edvins Miklasevics and Zanda Daneberga
    Citation: Hereditary Cancer in Clinical Practice 2019 17:17
  43. First-degree relatives (FDRs) of probands with colorectal cancer (CRC) may be at increased risk of CRC and require colonoscopy. Proband disclosure about this risk and need for colonoscopy is essential for FDRs...

    Authors: Kaitlin M. McGarragle, Crystal Hare, Spring Holter, Dorian Anglin Facey, Kelly McShane, Steven Gallinger and Tae L. Hart
    Citation: Hereditary Cancer in Clinical Practice 2019 17:16
  44. Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to...

    Authors: Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle and Sarah Louise Ariansen
    Citation: Hereditary Cancer in Clinical Practice 2019 17:14
  45. Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was originated from EC and to present the management of the disease.

    Authors: Wei Jiang, Tong Gao, Xiang Tao, Menghan Zhu, Liangqing Yao and Weiwei Feng
    Citation: Hereditary Cancer in Clinical Practice 2019 17:13

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