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  1. 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

    Published on:

  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and pre...

    Authors: Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee and Melissa A. Geller

    Citation: Hereditary Cancer in Clinical Practice 2018 16:13

    Content type: Research

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  33. Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene ...

    Authors: J. Maksimenko, A. Irmejs, G. Trofimovičs, D. Bērziņa, E. Skuja, G. Purkalne, E. Miklaševičs and J. Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2018 16:12

    Content type: Research

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  34. Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is...

    Authors: Jennifer L. Schneider, Katrina A. B. Goddard, Kristin R. Muessig, James V. Davis, Alan F. Rope, Jessica E. Hunter, Susan K. Peterson, Louise S. Acheson, Sapna Syngal, Georgia L. Wiesner and Jacob A. Reiss

    Citation: Hereditary Cancer in Clinical Practice 2018 16:11

    Content type: Research

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  35. This article [1] has been retracted at the request of the authors. Upon re-review of the data, the authors identified coding errors in this study.

    Authors: Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2018 16:10

    Content type: Retraction Note

    Published on:

    The original article was published in Hereditary Cancer in Clinical Practice 2017 15:20

  36. There is increasing evidence of high platinum sensitivity in BRCA-associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based ...

    Authors: Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne and Janis Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2018 16:9

    Content type: Research

    Published on:

  37. African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in Afr...

    Authors: Amanda J. Compadre, Melinda E. Simonson, Katy Gray, Gail Runnells, Susan Kadlubar and Kristin K. Zorn

    Citation: Hereditary Cancer in Clinical Practice 2018 16:8

    Content type: Research

    Published on:

  38. Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria fo...

    Authors: Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F. Schaeffer, Daniel Renouf and Kasmintan A. Schrader

    Citation: Hereditary Cancer in Clinical Practice 2018 16:7

    Content type: Case report

    Published on:

  39. Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovaria...

    Authors: Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A. Narod and Jacek Gronwald

    Citation: Hereditary Cancer in Clinical Practice 2018 16:6

    Content type: Research

    Published on:

  40. In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, whic...

    Authors: Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2018 16:4

    Content type: Research

    Published on:

  41. Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients ...

    Authors: Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal and Lovise Mæhle

    Citation: Hereditary Cancer in Clinical Practice 2018 16:3

    Content type: Research

    Published on:

  42. Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous syste...

    Authors: Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven and Sven Gläsker

    Citation: Hereditary Cancer in Clinical Practice 2018 16:2

    Content type: Research

    Published on:

  43. Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad sp...

    Authors: Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M. Okamoto, Geraldine McDowell, Melissa A. Hayden and Narasimhan Nagan

    Citation: Hereditary Cancer in Clinical Practice 2018 16:1

    Content type: Research

    Published on:

  44. Authors: C. Cybulski, W. Kluźniak, T. Huzarski, D. Wokołorczyk, A. Kashyap, A. Jakubowska, M. Szwiec, T. Byrski, T. Dębniak, B. Górski, V. Sopik, M. R. Akbari, P. Sun, J. Gronwald, S. A. Narod, J. Lubiński…

    Citation: Hereditary Cancer in Clinical Practice 2017 15(Suppl 2):21

    Content type: Meeting abstracts

    Published on:

    This article is part of a Supplement: Volume 15 Supplement 2

  45. Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the col...

    Authors: Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl…

    Citation: Hereditary Cancer in Clinical Practice 2017 15:22

    Content type: Research

    Published on:

  46. BRCA2 c.68-7T>A has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic BRCA2 var...

    Authors: Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2017 15:20

    Content type: Research

    Published on:

    The Retraction Note to this article has been published in Hereditary Cancer in Clinical Practice 2018 16:10

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