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Familial Cancer

Elizabeth V Clarke, Kristin R Muessig, Jamilyn Zepp, Jessica E Hunter, Sapna Syngal, Louise S Acheson, Georgia L Wiesner, Susan K Peterson, Kellene M Bergen, Elizabeth Shuster, James V Davis, Jennifer L Schneider, Tia L Kauffman, Marian J Gilmore, Jacob A Reiss, Alan F Rope, Jennifer E Cook, Katrina A B Goddard
A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening)...
February 7, 2019: Familial Cancer
Nina Hallowell, S Wright, D Stirling, C Gourley, O Young, M Porteous
A proportion of breast cancers are attributable to BRCA1 or BRCA2 mutations. Technological advances has meant that mutation testing in newly diagnosed cancer patients can be used to inform treatment plans. Although oncologists increasingly deliver treatment-focused genetic testing (TFGT) as part of mainstream ovarian cancer care, we know little about non-genetics specialists' views about offering genetic testing to newly diagnosed breast cancer patients. This study sought to determine genetics and non-genetics specialists' views of a proposal to mainstream BRCA1 and 2 testing in newly diagnosed breast cancer patients...
January 28, 2019: Familial Cancer
Celine Chiu, Stefanie Loth, Michaela Kuhlen, Sebastian Ginzel, Jörg Schaper, Thorsten Rosenbaum, Torsten Pietsch, Arndt Borkhardt, Jessica I Hoell
Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma...
January 24, 2019: Familial Cancer
Catherine Beard, Rebecca Purvis, Ingrid M Winship, Finlay A Macrae, Daniel D Buchanan
The AXIN2 gene, like APC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of published AXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. In this case report we describe a family with c...
January 22, 2019: Familial Cancer
Mijke Visser, Nienke van der Stoep, Nelleke Gruis
No abstract text is available yet for this article.
January 18, 2019: Familial Cancer
Kelly Reumkens, Christine E M de Die-Smulders, Liesbeth A D M van Osch
To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A questionnaire to assess the critical determinants that may affect this implementation was completed by health professionals involved in oncogenetic counselling (N = 46). Subsequently, semi-structured focus groups (N = 19) and individual telephonic interviews (N = 15) were performed with a subset of health professionals...
January 17, 2019: Familial Cancer
Leah H Biller, Sapna Syngal, Matthew B Yurgelun
Lynch syndrome is one of the most common hereditary cancer predisposition syndromes and is associated with increased risks of colorectal and endometrial cancer, as well as multiple other cancer types. While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been known for some time, there have been significant advances recently in diagnostic testing and the understanding of the molecular pathogenesis of Lynch tumors. There is also an increased awareness that the clinical phenotype and cancer risk varies by specific mismatch repair mutation, which in turn has implications on surveillance strategies for patients...
January 9, 2019: Familial Cancer
J J Bakhuizen, F B Hogervorst, M E Velthuizen, M W Ruijs, K van Engelen, T A van Os, J J Gille, M Collée, A M van den Ouweland, C J van Asperen, C M Kets, A R Mensenkamp, E M Leter, M J Blok, M M de Jong, M G Ausems
Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31 years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30 years of age were tested for TP53 germline mutations, and eight (2...
January 3, 2019: Familial Cancer
Erin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, Megan L Marshall, Maegan E Roberts, Lisa R Susswein, Ying Wang, Rachel T Klein, Kathleen S Hruska, Benjamin D Solomon
Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory...
January 2, 2019: Familial Cancer
Kelly Fulk, Holly LaDuca, Mary Helen Black, Dajun Qian, Yuan Tian, Amal Yussuf, Carin Espenschied, Kory Jasperson
Whether monoallelic MUTYH mutations increase female breast cancer risk remains controversial. This study aimed to determine if monoallelic MUTYH mutations are associated with increased breast cancer risk in women undergoing multigene panel testing (MGPT). The prevalence of monoallelic MUTYH mutations was compared between Non-Hispanic white female breast cancer cases (n = 30,456) and cancer-free controls (n = 12,289), all of whom underwent MGPT that included MUTYH. We tested breast cancer associations with MUTYH alleles using Fisher's exact test, followed by multivariate logistic regression adjusted for age at testing and MGPT type ordered...
December 23, 2018: Familial Cancer
F Adan, M B Crijns, E Dekker, B A J Bastiaansen, O Lapid, P Snaebjornsson, E H Rosenberg, M E van Leerdam, M W Bekkenk
Lynch syndrome (LS) is an autosomal-dominant inherited disorder characterized by a predisposition to colorectal cancer and extracolonic cancers (particularly endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, urothelial tract, brain, and skin). Muir-Torre syndrome (MTS) is considered a phenotypical variant of LS, where patients develop sebaceous neoplasms and keratoacanthomas. Currently, only few studies and case reports suggest an association between LS and other skin cancers, such as Bowens' disease, melanoma and squamous cell carcinoma (SCC)...
December 17, 2018: Familial Cancer
Shahid Mahmood Baig, Ambrin Fatima, Muhammad Tariq, Tahir Naeem Khan, Zafar Ali, Mohammad Faheem, Humera Mahmood, Patrick Killela, Matthew Waitkus, Yiping He, Fangping Zhao, Sizhen Wang, Yuchen Jiao, Hai Yan
Precise genetic counseling and prenatal diagnosis are often hindered by incomplete penetrance of risk variance and complex patterns of inheritance. Here, we performed a clinical and genetic study of a five-generation Pakistani family with a history of multiple cases of childhood brain tumors. Six affected individuals died of brain tumors at very early ages and three were confirmed as having a homozygous mutation in exon 6 of the PMS2 gene (c.543delT). Fifteen members of the family were identified as heterozygous carriers of this mutation with a lack of cancer incidence...
November 26, 2018: Familial Cancer
P Vande Perre, A Siegfried, C Corsini, D Bonnet, C Toulas, N Hamzaoui, J Selves, E Chipoulet, J S Hoffmann, E Uro-Coste, R Guimbaud
Germline mutations of the POLE gene are responsible for polymerase proofreading-associated polyposis syndrome (PPAP). These mutations were hypothesised to predispose to extra-gastrointestinal tumours (ovary, endometrium, brain), but this association has not been confirmed so far. We report a family with an autosomal dominant inheritance of PPAP due to a c.1089C>A; p.Asn363Lys mutation in the proofreading exonuclease domain of POLE. Ten patients presenting a history of colorectal tumours and three patients with polyposis are indexed in this family...
October 27, 2018: Familial Cancer
Florian Obermair, Melanie Rammer, Jonathan Burghofer, Theodora Malli, Anna Schossig, Katharina Wimmer, Wolfgang Kranewitter, Beate Mayrbaeurl, Hans-Christoph Duba, Gerald Webersinke
Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP. Transcript analysis showed that the c...
October 10, 2018: Familial Cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies...
October 9, 2018: Familial Cancer
Lars J Lindberg, Wia Wegen-Haitsma, Steen Ladelund, Lars Smith-Hansen, Christina Therkildsen, Inge Bernstein, Mef Nilbert
Development of multiple colorectal cancers (CRCs), synchronously or metachronously, is associated with hereditary predisposition for cancer and accurate risk estimates of multiple tumour development are relevant to recommend rational surveillance programs. A cross-sectional study design was used to estimate the risks of synchronous CRC (SCRC) and metachronous CRC (MCRC) based on data from the National Danish Hereditary Nonpolyposis Register. In total, 7100 individuals from families within the subgroups Lynch syndrome, familial CRC (FCC) and moderate risk were used with estimates relative to a non-hereditary population control cohort...
October 9, 2018: Familial Cancer
Somayyeh Fahiminiya, Nelly Sabbaghian, Steffen Albrecht, Javad Nadaf, Donato Callegaro-Filho, William D Foulkes
One of a pair of monozygous twins was diagnosed and died of small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) at the age of 30 years. Her sister remained unaffected and was very concerned about her risk for developing SCCOHT. By performing comprehensive molecular analysis using whole exome sequencing (WES) approach, we showed that the deceased twin's tumour has bi-allelic somatic genetic defects (a pathogenic frameshift deletion in SMARCA4 and LOH on chr19p). Results of WES of constitutional DNA from her unaffected sister were confirmatory...
October 4, 2018: Familial Cancer
Marieke Hylebos, Ken Op de Beeck, Jenneke van den Ende, Patrick Pauwels, Martin Lammens, Jan P van Meerbeeck, Guy Van Camp
Familial clustering of malignant mesothelioma (MM) has been linked to the presence of germline mutations in BAP1. However, families with multiple MM patients, without segregating BAP1 mutation were described, suggesting the existence of other predisposing genetic factors. In this study, we report a previously undescribed Belgian family, in which BAP1 was found to be absent in the epithelial malignant mesothelial cells of the index patient. Whole exome analysis did not reveal a germline or somatic BAP1 variant...
October 2018: Familial Cancer
S J Walton, G Malietzis, S K Clark, E Havranek
The aim of this retrospective cohort study was to review urological complication rates arising from familial adenomatous polyposis associated desmoid tumours and their management. All patients over a 35-year period were identified from a prospectively maintained polyposis registry database and had an intra-abdominal desmoid tumour. Those without ureteric complications (n = 118, group A) were compared to those that developed ureteric obstruction (n = 40, group B) for demographics, treatment interventions and survival outcomes...
October 2018: Familial Cancer
Anaita Kanga-Parabia, Clara Gaff, Louisa Flander, Mark Jenkins, Louise A Keogh
Unaffected relatives of individuals with Lynch syndrome can be offered predictive genetic testing to guide surveillance recommendations. The decision-making process of those who decline testing, particularly those who do not attend a clinical genetics service, is poorly understood. We have addressed this gap by interviewing 33 individuals from Lynch syndrome mutation-carrying families, unaffected by cancer, who declined predictive genetic testing. Here, we analyse the data provided by 20 participants who unequivocally declined testing...
October 2018: Familial Cancer
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