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  1. RAD51D (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumor...

    Authors: Mashu Futagawa, Hideki Yamamoto, Mariko Kochi, Yusaku Urakawa, Reimi Sogawa, Fumino Kato, Mika Okazawa-Sakai, Daisuke Ennishi, Katsunori Shinozaki, Hirofumi Inoue, Hiroyuki Yanai and Akira Hirasawa

    Citation: Hereditary Cancer in Clinical Practice 2021 19:48

    Content type: Case report

    Published on:

  2. Multiple primary cancers, defined as three or more primary tumours, are rare, and there are few genetic studies concerning them. There is a need for increased knowledge on the heritability of multiple primary ...

    Authors: Karin Wallander, Håkan Thonberg, Daniel Nilsson and Emma Tham

    Citation: Hereditary Cancer in Clinical Practice 2021 19:46

    Content type: Research

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    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2021 19:47

  3. The BRCA 1 and BRCA 2 genes are associated with an inherited susceptibility to breast cancer with a cumulative risk of 60% in BRCA 1 mutation carriers and of 30% in BRCA 2 mutation carriers. Several lifestyle ...

    Authors: A. Daniele, R. Divella, B. Pilato, S. Tommasi, P. Pasanisi, M. Patruno, M. Digennaro, C. Minoia, M. Dellino, S. Pisconti, P. Casamassima, E. Savino and A. V. Paradiso

    Citation: Hereditary Cancer in Clinical Practice 2021 19:45

    Content type: Review

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  4. Osteosarcoma is a highly malignant tumour associated with numerous and complex genetic alterations like copy number alterations. Recent whole genome studies revealed distinct mutations in several candidate onc...

    Authors: Alexander Puzik, Markus Uhl, Juri Ruf, Tilmann Schumacher and Udo Kontny

    Citation: Hereditary Cancer in Clinical Practice 2021 19:44

    Content type: Case report

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  5. A diagnosis of suspected Lynch syndrome (SLS) is given when a tumour displays characteristics consistent with Lynch syndrome (LS), but no germline pathogenic variant is identified. This inconclusive diagnosis ...

    Authors: Nicole den Elzen, Sharelle L. Joseland, Sibel Saya, Sowmya Jonnagadla, Joanne Isbister, Ingrid Winship and Daniel D. Buchanan

    Citation: Hereditary Cancer in Clinical Practice 2021 19:43

    Content type: Research

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  6. A small but important proportion of patients (4–10 %) with AML have germline mutations. They can cause the development of AML at an earlier age, confer a higher risk of relapse or predispose to secondary leuke...

    Authors: Aneta Bąk, Katarzyna Skonieczka, Anna Jaśkowiec, Anna Junkiert-Czarnecka, Marta Heise, Maria Pilarska-Deltow, Stanisław Potoczek, Maria Czyżewska and Olga Haus

    Citation: Hereditary Cancer in Clinical Practice 2021 19:42

    Content type: Research

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  7. Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polypos...

    Authors: Anne Marie Jelsig, John Gásdal Karstensen, Niels Jespersen, Zohreh Ketabi, Charlotte Lautrup, Karina Rønlund, Lone Sunde, Karin Wadt, Ole Thorlacius-Ussing and Niels Qvist

    Citation: Hereditary Cancer in Clinical Practice 2021 19:41

    Content type: Review

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  8. Consensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk inf...

    Authors: Suzanne C. O’Neill, Jada G. Hamilton, Claire C. Conley, Beth N. Peshkin, Rosalba Sacca, Glynnis A. McDonnell, Claudine Isaacs, Mark E. Robson and Kenneth P. Tercyak

    Citation: Hereditary Cancer in Clinical Practice 2021 19:40

    Content type: Debate article

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  9. The purpose of this guideline is to make recommendations regarding the care of women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2.

    Authors: Michelle Jacobson, Nadia Coakley, Marcus Bernardini, Kelly-Ann Branco, Laurie Elit, Sarah Ferguson and Raymond Kim

    Citation: Hereditary Cancer in Clinical Practice 2021 19:39

    Content type: Review

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  10. Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling t...

    Authors: Mari Kalamo, Johanna Mäenpää, Toni Seppälä, Jukka-Pekka Mecklin, Kirsi Pylvänäinen and Synnöve Staff

    Citation: Hereditary Cancer in Clinical Practice 2021 19:38

    Content type: Research

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  11. Authors: Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John and Alina Stoita

    Citation: Hereditary Cancer in Clinical Practice 2021 19:37

    Content type: Correction

    Published on:

    The original article was published in Hereditary Cancer in Clinical Practice 2021 19:33

  12. Tumors arising in BRCA1/2 germline mutation carriers usually demonstrate somatic loss of the remaining BRCA1/2 allele and increased sensitivity to platinum compounds, anthracyclines, mitomycin C and poly (ADP-rib...

    Authors: Evgeny N. Imyanitov

    Citation: Hereditary Cancer in Clinical Practice 2021 19:36

    Content type: Review

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  13. Nearly 56% of at-risk carriers are not identified and missed as a result of the current family-history (FH) screening for genetic testing. The present study aims to review the economic evaluation studies on BR...

    Authors: Zahra Meshkani, Ali Aboutorabi, Najmeh Moradi, Mostafa Langarizadeh and Ali Ghanbari Motlagh

    Citation: Hereditary Cancer in Clinical Practice 2021 19:35

    Content type: Review

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  14. Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with viscer...

    Authors: Makoto Nakagawa, Eisuke Kobayashi, Masayoshi Yamada, Tomoko Watanabe, Makoto Hirata, Noriko Tanabe, Mineko Ushiama, Hiromi Sakamoto, Chiaki Sato, Taisuke Mori, Akihiko Yoshida, Teruhiko Yoshida, Kokichi Sugano and Akira Kawai

    Citation: Hereditary Cancer in Clinical Practice 2021 19:34

    Content type: Case report

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  15. The Australian Pancreatic Cancer Screening Program (APCSP) offers endoscopic ultrasound surveillance for individuals at increased risk of pancreatic ductal adenocarcinoma (PDAC) with all participants requiring...

    Authors: Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John and Alina Stoita

    Citation: Hereditary Cancer in Clinical Practice 2021 19:33

    Content type: Research

    Published on:

    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2021 19:37

  16. The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes’ homeostasis. Individuals harboring MITF germline pathogenic variants ...

    Authors: Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz and Benedito Mauro Rossi

    Citation: Hereditary Cancer in Clinical Practice 2021 19:32

    Content type: Case report

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  17. Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make re...

    Authors: Jordon B. Ritchie, Cecelia Bellcross, Caitlin G. Allen, Lewis Frey, Heath Morrison, Joshua D. Schiffman and Brandon M. Welch

    Citation: Hereditary Cancer in Clinical Practice 2021 19:31

    Content type: Research

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  18. Aim of the study is to evaluate the role of ultrasound guided fine needle aspiration cytology (FNAC) in the restaging of node positive breast cancer after preoperative systemic therapy (PST).

    Authors: Baiba Līcīte, Arvīds Irmejs, Jeļena Maksimenko, Pēteris Loža, Genādijs Trofimovičs, Edvīns Miklaševičs, Jurijs Nazarovs, Māra Romanovska, Justīne Deičmane, Reinis Irmejs, Gunta Purkalne and Jānis Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2021 19:30

    Content type: Research

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  19. Although extended colectomy (EC) was recommended for HNPCC patients, previous studies did not show significantly improved overall survival. Immunohistochemical (IHC) stain of mismatch repair (MMR) gene protein...

    Authors: Chun-Kai Liao, Yueh-Chen Lin, Yu-Jen Hsu, Yih-Jong Chern, Jeng-Fu You and Jy-Ming Chiang

    Citation: Hereditary Cancer in Clinical Practice 2021 19:29

    Content type: Research

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  20. Endometrial cancer is often the sentinel cancer in women with Lynch syndrome, among which endometrioid endometrial cancer is the most common. We found a Korean case of uterine carcinosarcoma associated with Ly...

    Authors: Youn-Joon Jung, Hye Ryoun Kim, Mi Kyung Kim and Eun-Ju Lee

    Citation: Hereditary Cancer in Clinical Practice 2021 19:28

    Content type: Case report

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  21. DNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair function and cause genome instability. Carriers with MMR germ...

    Authors: Min Zhang and Tianhui Chen

    Citation: Hereditary Cancer in Clinical Practice 2021 19:26

    Content type: Review

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    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2021 19:27

  22. Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes patients to colorectal cancer. FAP is the result of a loss of APC function due to germline pathogenic variants disruptin...

    Authors: T Connor, M McPhillips, M Hipwell, A Ziolkowski, C Oldmeadow, M Clapham, PG Pockney, E Lis, T Banasiewicz, A Pławski and RJ Scott

    Citation: Hereditary Cancer in Clinical Practice 2021 19:25

    Content type: Research

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  23. This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic BRCA1/2 ...

    Authors: Bettina Meiser, Rajneesh Kaur, April Morrow, Michelle Peate, W. K. Tim Wong, Emily McPike, Elisa Cops, Cassandra Nichols, Rachel Austin, Miriam Fine, Letitia Thrupp, Robyn Ward, Finlay Macrae, Janet E. Hiller, Alison H. Trainer and Gillian Mitchell

    Citation: Hereditary Cancer in Clinical Practice 2021 19:24

    Content type: Research

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  24. We have previously reported a family with a suspected autosomal dominant rectal and gastric cancer syndrome without any obvious causative genetic variant. Here, we focused the study on a potentially isolated r...

    Authors: Karin Wallander, Jessada Thutkawkorapin, Ellika Sahlin, Annika Lindblom and Kristina Lagerstedt-Robinson

    Citation: Hereditary Cancer in Clinical Practice 2021 19:23

    Content type: Research

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  25. Although CDKN2A is well-known as a susceptibility gene for melanoma and pancreatic cancer, germline variants have also been anecdotally associated with a broader range of neoplasms including neural system tumors,...

    Authors: Sock Hoai Chan, Jianbang Chiang and Joanne Ngeow

    Citation: Hereditary Cancer in Clinical Practice 2021 19:21

    Content type: Review

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  26. The presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of he...

    Authors: Si Ming Fung, R. Ryanne Wu, Rachel A. Myers, Jasper Goh, Geoffrey S. Ginsburg, David Matchar, Lori A. Orlando and Joanne Ngeow

    Citation: Hereditary Cancer in Clinical Practice 2021 19:20

    Content type: Research

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  27. 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

    Content type: Research

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  28. 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

    Content type: Research

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  29. 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

    Content type: Research

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  30. 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

    Content type: Research

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  31. 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

    Content type: Case report

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  32. 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

    Content type: Research

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  33. 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

    Content type: Research

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  34. 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

    Content type: Case report

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  35. 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

    Content type: Research

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  36. 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

    Content type: Research

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  37. 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

    Content type: Research

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  38. 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

    Content type: Research

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  39. 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

    Content type: Case report

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  40. 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

    Content type: Research

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  41. 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

    Content type: Case report

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  42. 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

    Content type: Correction

    Published on:

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

  43. 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

    Content type: Case report

    Published on:

  44. 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

    Content type: Case report

    Published on:

  45. 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

    Content type: Case report

    Published on:

  46. 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

    Content type: Research

    Published on:

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

  47. 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

    Content type: Research

    Published on:

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