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  1. Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two ...

    Authors: Tracy Lowe, Jane DeLuca, Ludovico Abenavoli and Luigi Boccuto
    Citation: Hereditary Cancer in Clinical Practice 2023 21:17
  2. WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, includ...

    Authors: M. F. Broekema, E. J. W. Redeker, M. T. Uiterwaal and L. P. van Hest
    Citation: Hereditary Cancer in Clinical Practice 2023 21:16
  3. High-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival, but is demanding. Our objective was to evaluate surveillance adherence in a population...

    Authors: Kaylee A. Underkofler, Martha H. Thomas, Christina J. Taylor, Christa L. Mazur, Sarah H. Erickson and Kari L. Ring
    Citation: Hereditary Cancer in Clinical Practice 2023 21:15
  4. : This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep ap...

    Authors: Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi and Hiroya Takeuchi
    Citation: Hereditary Cancer in Clinical Practice 2023 21:14
  5. Synchronous endometrial and ovarian cancer (SEOC) accounts for 50–70% of all synchronous gynecology cancers in women. Approximately 14% of SEOC cases are caused by Lynch syndrome (LS). The widespread introduct...

    Authors: Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska and Slavena Enkova Nikolova
    Citation: Hereditary Cancer in Clinical Practice 2023 21:13
  6. Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing v...

    Authors: M. E. Papadopulos, J. P. Plazzer and F. A. Macrae
    Citation: Hereditary Cancer in Clinical Practice 2023 21:12
  7. A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder ef...

    Authors: Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister and Christian P. Schaaf
    Citation: Hereditary Cancer in Clinical Practice 2023 21:11
  8. BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA...

    Authors: Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod and Jan Lubinski
    Citation: Hereditary Cancer in Clinical Practice 2023 21:9
  9. The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cel...

    Authors: Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen and Anne Marie Jelsig
    Citation: Hereditary Cancer in Clinical Practice 2023 21:7
  10. The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic.

    Authors: Samantha Williams, Jessica E. Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J. Wangensteen, Kathleen Valverde, Nadim Mahmud and Bryson W. Katona
    Citation: Hereditary Cancer in Clinical Practice 2023 21:6
  11. Although Singapore is one of the highest vaccinated countries in the world, vaccine hesitancy remains in a subpopulation, including individuals with cancer predisposition syndromes. At the Cancer Genetics Serv...

    Authors: Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang and Joanne Ngeow Yuen Yie
    Citation: Hereditary Cancer in Clinical Practice 2023 21:5
  12. Triple-negative breast cancer is a heterogeneous molecular subtype of BC. Pathological complete response (pCR) is an important surrogate marker for recurrence-free and overall survival.

    Authors: Elina Sivina, Lubova Blumberga, Gunta Purkalne and Arvids Irmejs
    Citation: Hereditary Cancer in Clinical Practice 2023 21:4
  13. Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch syndrome and familial adenomatous polyposis being ...

    Authors: Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres and Pablo Jiménez-Labaig
    Citation: Hereditary Cancer in Clinical Practice 2023 21:2
  14. The current understanding of the inherited risk of colorectal cancer (CRC) started with an observational clinical era in the late 19th century, which was followed by a genetic era starting in the late 20th centur...

    Authors: Olfat Ahmad and Asta Försti
    Citation: Hereditary Cancer in Clinical Practice 2023 21:1
  15. Women carrying BRCA1/2 pathogenic variants are exposed to elevated risks of developing breast cancer (BC) and are faced by a complex decision-making process on preventative measures, i.e., risk-reducing mastectom...

    Authors: Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem and Rita K. Schmutzler
    Citation: Hereditary Cancer in Clinical Practice 2022 20:38
  16. To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all part...

    Authors: Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni…
    Citation: Hereditary Cancer in Clinical Practice 2022 20:36
  17. Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas others may never develop a malignancy yet carry an unequivocal genetic predisposition to...

    Authors: Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2022 20:35
  18. Triple negative breast cancer (TNBC) is an aggressive breast cancer strongly associated with BRCA mutation. Standard neoadjuvant chemotherapy remains the standard of care for early stage TNBC, the optimal chemoth...

    Authors: Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso, Leonor Pinto and Teresa Almeida-Santos
    Citation: Hereditary Cancer in Clinical Practice 2022 20:34
  19. There is a growing need for genetic testing of women with epithelial ovarian cancer. Mainstream genetic testing provides an alternative care pathway in which non-genetic healthcare professionals offer pre-test...

    Authors: Kyra Bokkers, Eveline M. A. Bleiker, Jacob P. Hoogendam, Mary E. Velthuizen, Henk W. R. Schreuder, Cornelis G. Gerestein, Joost G. Lange, Jacqueline A. Louwers, Marco J. Koudijs, Margreet G. E. M. Ausems and Ronald P. Zweemer
    Citation: Hereditary Cancer in Clinical Practice 2022 20:33
  20. Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these variants are inherited from a parent. De novo constitutional pathogenic variants are rare. Ev...

    Authors: B. Speight, E. Colvin, E. D. Epurescu, J. Drummond, S. Verhoef, M. Pereira, D. G. Evans and M. Tischkowitz
    Citation: Hereditary Cancer in Clinical Practice 2022 20:32
  21. Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage...

    Authors: Ibrahim H. Shah, Erin E. Salo-Mullen, Kimberly A. Amoroso, David Kelsen, Zsofia K. Stadler and Jada G. Hamilton
    Citation: Hereditary Cancer in Clinical Practice 2022 20:31
  22. The National Institute for Health and Care Excellence (NG151) recommends considering daily aspirin for people with Lynch syndrome to reduce colorectal cancer risk. However, deciding whether to initiate aspirin...

    Authors: Kelly E. Lloyd, Robbie Foy, Louise H. Hall, Lucy Ziegler, Sophie M. C. Green, Zainab F. Haider, David G. Taylor, Mairead MacKenzie and Samuel G. Smith
    Citation: Hereditary Cancer in Clinical Practice 2022 20:30
  23. While the role of BRCA1/2 genes in familial breast and ovarian cancer is well established, their implication in the sporadic form of both cancers is still controversial. With the development of poly (ADP-ribose) ...

    Authors: Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita and Jamal Fekkak
    Citation: Hereditary Cancer in Clinical Practice 2022 20:29
  24. A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses chall...

    Authors: Sowmya Jonnagadla, Sharelle L. Joseland, Sibel Saya, Nicole den Elzen, Joanne Isbister, Ingrid M. Winship and Daniel D. Buchanan
    Citation: Hereditary Cancer in Clinical Practice 2022 20:27
  25. It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary panc...

    Authors: Marek Olakowski and Łukasz Bułdak
    Citation: Hereditary Cancer in Clinical Practice 2022 20:26
  26. Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-g...

    Authors: Lindsay Carlsson, Emily Thain, Brittany Gillies and Kelly Metcalfe
    Citation: Hereditary Cancer in Clinical Practice 2022 20:25
  27. Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally.

    Authors: Fizza Akbar, Zahraa Siddiqui, Muhammad Talha Waheed, Lubaina Ehsan, Syed Ibaad Ali, Hajra Wiquar, Azmina Tajuddin Valimohammed, Shaista Khan, Lubna Vohra, Sana Zeeshan, Yasmin Rashid, Munira Moosajee, Adnan Abdul Jabbar, Muhammad Nauman Zahir, Naila Zahid, Rufina Soomro…
    Citation: Hereditary Cancer in Clinical Practice 2022 20:24
  28. Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2...

    Authors: Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E. Puhaindran, Balamurugan A. Vellayappan, Samuel Guan Wei Ow, Gloria Chan and Soo-Chin Lee
    Citation: Hereditary Cancer in Clinical Practice 2022 20:23
  29. Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral – a roadblock that disproporti...

    Authors: Kathleen F. Mittendorf, Hannah S. Lewis, Devan M. Duenas, Donna J. Eubanks, Marian J. Gilmore, Katrina A. B. Goddard, Galen Joseph, Tia L. Kauffman, Stephanie A. Kraft, Nangel M. Lindberg, Ana A. Reyes, Elizabeth Shuster, Sapna Syngal, Chinedu Ukaegbu, Jamilyn M. Zepp, Benjamin S. Wilfond…
    Citation: Hereditary Cancer in Clinical Practice 2022 20:22
  30. Authors: Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D. Spigelman, Cliff J. Meldrum, Susan Dooley and Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2022 20:20

    The original article was published in Hereditary Cancer in Clinical Practice 2016 14:6

  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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

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