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  1. Early identification of hereditary cancer risk would save lives, but genetic testing (GT) has been inadequate. We assessed i) trends for hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and other G...

    Authors: Mahip Acharya, Kristin K. Zorn, Melinda E. Simonson, Milan Bimali, Gary W. Moore, Cheng Peng and Bradley C. Martin
    Citation: Hereditary Cancer in Clinical Practice 2022 20:19
  2. To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3–5% of colorectal cancers (CRCs). While gui...

    Authors: Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey, Amy Pearn, Cassandra Nichols, Skye McKay, Anne Hayward, Natasha Egoroff, Alexander Engel…
    Citation: Hereditary Cancer in Clinical Practice 2022 20:18
  3. Lynch syndrome (LS) is associated with an increased risk of colorectal (CRC) and endometrial (EC) cancers. Universal tumor screening (UTS) of all individuals diagnosed with CRC and EC is recommended to increas...

    Authors: Philip R. Crain, Jamilyn M. Zepp, Sara Gille, Lindsay Jenkins, Tia L. Kauffman, Elizabeth Shuster, Katrina A.B. Goddard, Benjamin S. Wilfond and Jessica Ezzell Hunter
    Citation: Hereditary Cancer in Clinical Practice 2022 20:17
  4. A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported...

    Authors: Reem S. Hamad and Muntaser E. Ibrahim
    Citation: Hereditary Cancer in Clinical Practice 2022 20:16
  5. Reflex (automatic) BRCA1 and BRCA2 (BRCA1/2) genetic testing of tumour tissue is being completed for all newly diagnosed high-grade serous ovarian cancer (HGSOC) in the province of Ontario, Canada. The objective ...

    Authors: Jeanna M. McCuaig, Sarah E. Ferguson, Danielle Vicus, Karen Ott, Tracy L. Stockley, Raymond H. Kim and Kelly A. Metcalfe
    Citation: Hereditary Cancer in Clinical Practice 2022 20:15
  6. Women with a pathogenic germline mutation in the BRCA1 gene face a very high lifetime risk of developing breast cancer, estimated at 72% by age 80. Prophylactic bilateral mastectomy is the only effective way to l...

    Authors: Sarah Sohyun Park, Aleksandra Uzelac and Joanne Kotsopoulos
    Citation: Hereditary Cancer in Clinical Practice 2022 20:14
  7. The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C...

    Authors: Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek, Steven A. Narod and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2022 20:13
  8. Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of ...

    Authors: Andrzej Jasiewicz, Helena Rudnicka, Wojciech Kluźniak, Wojciech Gronwald, Tomasz Kluz, Cezary Cybulski, Anna Jakubowska, Jan Lubiński and Jacek Gronwald
    Citation: Hereditary Cancer in Clinical Practice 2022 20:12
  9. There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This s...

    Authors: Alicja Ogrodniczak, Janusz Menkiszak, Jacek Gronwald, Joanna Tomiczek-Szwiec, Marek Szwiec, Cezary Cybulski, Tadeusz Dębniak, Tomasz Huzarski, Aleksandra Tołoczko-Grabarek, Tomasz Byrski, Katarzyna Białkowska, Karolina Prajzendanc, Piotr Baszuk, Jan Lubiński and Anna Jakubowska
    Citation: Hereditary Cancer in Clinical Practice 2022 20:11
  10. Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromosome 11q13. We found a Chinese woman who had a pancreatic tumor, parathyroi...

    Authors: Fan Zhang, Xiaohui Yu, Xiaoli Wang and Hua Shao
    Citation: Hereditary Cancer in Clinical Practice 2022 20:10
  11. Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previousl...

    Authors: Tina Kamani, Parsa Charkhchi, Afshan Zahedi and Mohammad R. Akbari
    Citation: Hereditary Cancer in Clinical Practice 2022 20:9
  12. Breast cancer risk stratification categorizes a woman’s potential risk of developing the disease as near-population, intermediate, or high. In accordance, screening and follow up for breast cancer can readily ...

    Authors: Saima Ahmed, Emmanuelle Lévesque, Rosalind Garland, Bartha Knoppers, Michel Dorval, Jacques Simard and Carmen G. Loiselle
    Citation: Hereditary Cancer in Clinical Practice 2022 20:8
  13. A critical step in access to genetic testing for hereditary cancer syndromes is referral for genetic counseling to assess personal and family risk. Individuals meeting testing guidelines have the greatest need...

    Authors: Kristin R. Muessig, Jamilyn M. Zepp, Erin Keast, Elizabeth E. Shuster, Ana A. Reyes, Briana Arnold, Chalinya Ingphakorn, Marian J. Gilmore, Tia L. Kauffman, Jessica Ezzell Hunter, Sarah Knerr, Heather S. Feigelson and Katrina A. B. Goddard
    Citation: Hereditary Cancer in Clinical Practice 2022 20:7
  14. In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered ...

    Authors: Nina Strømsvik, Pernilla Olsson, Berit Gravdehaug, Hilde Lurås, Ellen Schlichting, Kjersti Jørgensen, Teresia Wangensteen, Tone Vamre, Cecilie Heramb, Lovise Mæhle and Eli Marie Grindedal
    Citation: Hereditary Cancer in Clinical Practice 2022 20:6
  15. The Hox transcript antisense intergenic RNA (HOTAIR) has been identified as a tumor gene, and its expression in HCC is significantly increased. HOTAIR is associated with the proliferation, invasion, metastasis...

    Authors: Bing-rong Wang, Dong-xia Chu, Mei-yu Cheng, Yu Jin, Hao-ge Luo and Na Li
    Citation: Hereditary Cancer in Clinical Practice 2022 20:4
  16. Often young women affected with BRCA1/2 positive breast cancer have not finished or even not started their childbearing before the onset of the disease. The aim of our mini-review is to summarize state of art kno...

    Authors: Jelena Maksimenko, Arvīds Irmejs and Jānis Gardovskis
    Citation: Hereditary Cancer in Clinical Practice 2022 20:3
  17. Juvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities.

    Authors: Lior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, Shani Hegger, Ido Laish, Estela Derazne, Ilana Weintraub, Gili Reznick-Levi, Yael Goldberg, Zohar Levi, Shlomi Cohen and Elizabeth E. Half
    Citation: Hereditary Cancer in Clinical Practice 2022 20:2
  18. The role of HOXB13 in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of HOXB13 p.G84E mutation in bladder and kidney cancer patients from Poland.

    Authors: Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2022 20:1
  19. The data on prevalence and clinical relevance of TP53 germline mutations in early onset Middle-Eastern breast cancer (BC) is limited.

    Authors: Abdul Khalid Siraj, Tariq Masoodi, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Maha Al-Rasheed, Dahish Ajarim, Asma Tulbah, Fouad Al-Dayel and Khawla Sami Al-Kuraya
    Citation: Hereditary Cancer in Clinical Practice 2021 19:49
  20. 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
  21. 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

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

  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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

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

  31. 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
  32. 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
  33. 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
  34. 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

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

  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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

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

  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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

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