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  1. 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

    Content type: Research

    Published on:

  2. 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

    Content type: Research

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  3. 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

    Content type: Correction

    Published on:

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

  4. 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

    Content type: Research

    Published on:

  5. 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

    Content type: Research

    Published on:

  6. 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

    Content type: Case report

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  7. 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

    Content type: Case report

    Published on:

  8. 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

    Content type: Review

    Published on:

  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Research

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

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  21. 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

    Content type: Case report

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  22. 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

    Content type: Research

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  23. 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

    Content type: Research

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  24. 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

    Content type: Research

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  25. 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

    Content type: Research

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  26. 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

    Content type: Review

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  27. 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

    Content type: Research

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  28. 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

    Content type: Research

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  29. 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

    Content type: Research

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  30. 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

    Content type: Research

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  31. Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women < 50 years old (y.o.) with NF1 have an increased breast cancer (BC) incidence and BC associated mortality. However, ...

    Authors: Lorena P. Suarez-Kelly, Lianbo Yu, David Kline, Eric B. Schneider, Doreen M. Agnese and William E. Carson

    Citation: Hereditary Cancer in Clinical Practice 2019 17:12

    Content type: Research

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  32. Triple negative breast cancers (TNBC) are associated with an aggressive clinical course, earlier recurrence and short survival. BRCA – mutated tumours represent up to 25% of all TNBC. BRCA status is being studied...

    Authors: Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso and Teresa Almeida-Santos

    Citation: Hereditary Cancer in Clinical Practice 2019 17:11

    Content type: Review

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  33. Since more than two decades Risk-reducing salpingo-oophorectomy (RRSO) is recommended and widely accepted by BRCA1/2 carriers as a method reducing ovarian cancer risk and improving survival rate. After RRSO, t...

    Authors: Janusz Menkiszak, Anita Chudecka-Głaz, Aneta Cymbaluk-Płoska, Aleksander Celewicz, Zbigniew Kojs, Mariusz Szajda, Maria Świniarska, Ryszard Bedner, Anna Jurczak, Marta Celewicz, Monika Cieszyńska, Jan Lubiński and Jacek Gronwald

    Citation: Hereditary Cancer in Clinical Practice 2019 17:10

    Content type: Research

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  34. Lynch syndrome is the most common hereditary colorectal cancer syndrome, and adenoma is one of the important premalignant lesions to colorectal cancer in Lynch syndrome. The first objective of this study was t...

    Authors: FangChao Zhu, Da Pan, Hui Zhang, Qiong Ye, PeiSong Xu and Jie Pan

    Citation: Hereditary Cancer in Clinical Practice 2019 17:9

    Content type: Research

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  35. Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. Thi...

    Authors: Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup…

    Citation: Hereditary Cancer in Clinical Practice 2019 17:8

    Content type: Research

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  36. In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They ma...

    Authors: Fabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, Claire Laquet, Véronique Boussion, Marie Béguinot, Marie-Françoise Petit, Anne-Sophie Grémeau, Céline Verlet, Charlotte Chaptal, Marilyn Broult, Sylvie Jouvency, Martine Duclos and Yves-Jean Bignon

    Citation: Hereditary Cancer in Clinical Practice 2019 17:7

    Content type: Research

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  37. In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and va...

    Authors: Jonas Henn, Isabel Spier, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters and Stefan Aretz

    Citation: Hereditary Cancer in Clinical Practice 2019 17:5

    Content type: Research

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  38. Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than Eu...

    Authors: Chantal Farra, Christelle Dagher, Rebecca Badra, Miza Salim Hammoud, Raafat Alameddine, Johnny Awwad, Muhieddine Seoud, Jaber Abbas, Fouad Boulos, Nagi El Saghir and Deborah Mukherji

    Citation: Hereditary Cancer in Clinical Practice 2019 17:4

    Content type: Research

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  39. Approximately 5 to 10% of all cancers are caused by inherited germline mutations, many of which are associated with different Hereditary Cancer Syndromes (HCS). In the context of the Program of Hereditary Canc...

    Authors: Marta Ramírez-Calvo, Zaida García-Casado, Antonio Fernández-Serra, Inmaculada de Juan, Sarai Palanca, Silvestre Oltra, José Luis Soto, Adela Castillejo, Víctor M Barbera, Ma José Juan-Fita, Ángel Segura, Isabel Chirivella, Ana Beatriz Sánchez, Isabel Tena, Carolina Chaparro, Dolores Salas…

    Citation: Hereditary Cancer in Clinical Practice 2019 17:3

    Content type: Research

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  40. The number of individuals meeting criteria for genetic counseling and testing for hereditary cancer syndromes (HCS) is far less than the number that actually receive it. To facilitate identification of patient...

    Authors: Leslie Bucheit, Katherine Johansen Taber and Kaylene Ready

    Citation: Hereditary Cancer in Clinical Practice 2019 17:2

    Content type: Research

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  41. As a large-scale study of Koreans, we evaluated the association between BRCA mutation and the prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients.

    Authors: Hakyoung Kim, Doo Ho Choi, Won Park, Young-Hyuck Im, Jin Seok Ahn, Yeon Hee Park, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Jong Hwan Yu, Se Kyung Lee and Boo Yeon Jung

    Citation: Hereditary Cancer in Clinical Practice 2019 17:1

    Content type: Research

    Published on:

  42. Pancreatic cancer screening is recommended to individuals at risk (IAR) of familial pancreatic cancer (FPC) families, but little is known about the acceptance of such screening programs. Thus, the acceptance a...

    Authors: Frederike S. Franke, Elvira Matthäi, Emily P. Slater, Christoph Schicker, Johannes Kruse and Detlef K. Bartsch

    Citation: Hereditary Cancer in Clinical Practice 2018 16:17

    Content type: Research

    Published on:

  43. Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and e...

    Authors: Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom and Emma Tham

    Citation: Hereditary Cancer in Clinical Practice 2018 16:16

    Content type: Research

    Published on:

  44. Hemangioblastomas are associated with elevated hemoglobin (Hb) levels (polyglobulia), which is associated with a higher risk for cerebral stroke, cardiac infarction and pulmonary embolism. The pathomechanism o...

    Authors: Marie T. Krüger, Jan-Helge Klingler, Cordula Jilg, Christine Steiert, Stefan Zschiedrich, Vera Van Velthoven and Sven Gläsker

    Citation: Hereditary Cancer in Clinical Practice 2018 16:15

    Content type: Research

    Published on:

  45. Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consist...

    Authors: Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G. Pockney, Rodney J. Scott and Bente A. Talseth-Palmer

    Citation: Hereditary Cancer in Clinical Practice 2018 16:14

    Content type: Research

    Published on:

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