Germline Pathogenic Variants in Patients with Pancreatic Ductal Adenocarcinoma and Extra-Pancreatic Malignancies: A Nationwide Database Analysis

Authors: Kryklyva, Valentyna ^a, Pflüger, Michael J. ^{b, c, d}, Ouchene, Hicham ^e, Volleberg-Gorissen, Hanneke ^e, Mensenkamp, Arjen R. ^e, Jonker, Marianne A. ^f, van de Water, Carlijn ^a, Nagtegaal, Iris D. ^{a, ∗}, Ligtenberg, Marjolijn J.L. ^{a, e}, Brosens, Lodewijk A.A. ^{a, g, ∗}

Source: In Modern Pathology May 2025 38(5)

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Authors: Parsons, Michael T., de la Hoya, Miguel, Richardson, Marcy E., Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M., Chan, Raymond C., Cline, Melissa S., Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R., Monteiro, Alvaro N., Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony A., Toland, Amanda E., Turnbull, Clare, Vogel, Maartje J., Weyandt, Jamie, Wiggins, George A.R., Zec, Lauren, Couch, Fergus J., Walker, Logan C., Vreeswijk, Maaike P.G., Goldgar, David E., Spurdle, Amanda B.

Source: In The American Journal of Human Genetics 5 September 2024 111(9):2044-2058

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Authors: Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., Voorham, Q.J.M., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., Hooning, Maartje J.

Source: In Genetics in Medicine September 2024 26(9)

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Authors: Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, de Voer, Richarda M.

Source: In Genetics in Medicine May 2024 26(5)

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

Authors: Sie Aisha S, Spruijt Liesbeth, van Zelst-Stams Wendy AG, Mensenkamp Arjen R, Ligtenberg Marjolijn J, Brunner Han G, Prins Judith B, Hoogerbrugge Nicoline

Source: BMC Women's Health, Vol 12, Iss 1, p 12 (2012)

Subject Terms: Hereditary, Breast cancer, BRCA, Genetic, Counseling, DNA, Gynecology and obstetrics, RG1-991, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://www.biomedcentral.com/1472-6874/12/12; https://doaj.org/toc/1472-6874

Access URL: https://doaj.org/article/a17623d49b8b473e8cc656ecbec12006

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Authors: Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., Vos, Janet R.

Source: In European Journal of Medical Genetics December 2022 65(12)

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Authors: Baert-Desurmont, Stéphanie, Claes, Kathleen B.M., de Leeneer, Kim, Elze, Lisa, van den Heuvel, Simone, van der Post, Rachel S., van Twuijver, Yvonne, van Ham, Tjakko J., Wagner, Anja, de Jong, Mirjam M., Leter, Edward M., Nielsen, Maartje, Te Paske, Iris B.A.W., Mensenkamp, Arjen R., Neveling, Kornelia, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., De Voer, Richarda M.

Source: In Gastroenterology December 2022 163(6):1691-1694

Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review

Authors: Hendricks, Linda A.J., Schuurs-Hoeijmakers, Janneke, Spier, Isabel, Haadsma, Maaike L., Eijkelenboom, Astrid, Cremer, Kirsten, Mensenkamp, Arjen R., Aretz, Stefan, Vos, Janet R., Hoogerbrugge, Nicoline

Source: In European Journal of Medical Genetics July 2022 65(7)

Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer

Authors: Mensenkamp, Arjen R., van Kessel, Ad Geurts, Spruijt, Liesbeth, Kets, C. Marleen, van Zelst-Stam, Wendy A.G., Schouten, Meyke I., Wevers, Marijke R., Olderode-Berends, Maran J.W., Oosterwijk, Jan C., Hitzert, Marrit M., Letteboer, Tom G.W., Stanković, Snežana, Kamping, Eveline J., Yuniati, Laurensia, van Leeuwen, Frank N., Weitz, Jürgen, van der Post, Rachel S., Teixeira, Manuel R., Liu, Huanliang, Wang, Jianping, Jongmans, Marjolijn C.J., Zhang, Junxiao, Kuiper, Roland P., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., De Voer, Richarda M.

Source: In Gastroenterology March 2022 162(3):969-974

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Authors: Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves-Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Golmard, Lisa, Houdayer, Claude, Lasset, Christine, Laurent, Maïté, Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Prieur, Fabienne, Pujol, Pascal, Saule, Claire, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Venat-Bouvet, Laurence, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brennan, Paul, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Dunning, Alison M., Eason, Jacqueline, Eccles, Diana M., Gregory, Helen, Hanson, Helen, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B.L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Mulligan, Anna Marie, van Asperen, Christi J., Aalfs, Cora M., Adank, Muriel A., Ausems, Margreet G.E.M., Blok, Marinus J., Gómez Garcia, Encarna B., Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Koudijs, Marco, Kriege, Mieke, Meijers-Heijboer, Hanne E.J., Mensenkamp, Arjen R., Mooij, Thea M., Oosterwijk, Jan C., van den Ouweland, Ans M.W., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H.M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte P., van Os, Theo A.M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Beesley, Jonathan, Fox, Stephen, Holland, Helene, Phillips, Kelly-Anne, Spurdle, Amanda B., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, Schmidt, Marjanka K.

Source: In Genetics in Medicine September 2021 23(9):1726-1737

Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors

Authors: Dommering, Charlotte J., Hoogerbrugge, Nicoline, de Jong, Mirjam M., Bleeker, Fonnet E., Leter, Edward M., Letteboer, Tom G.W., Nielsen, Maartje, van der Post, Rachel S., Wapstra, Brigit, Elze, Lisa, Mensenkamp, Arjen R., Nagtegaal, Iris D., van Zelst-Stams, Wendy A.G., de Voer, Richarda M., Ligtenberg, Marjolijn J.L.

Source: In Gastroenterology March 2021 160(4):1414-1416

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

Authors: Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P

Source: Journal of pathology. 255(2):202-211

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128819000.0x000001&indx=1&recIds=ETOCvdc_100128819000.0x000001

Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Authors: Elze, Lisa, Post, Rachel S van der, Vos, Janet R, Mensenkamp, Arjen R, Naga, Samhita Pamidimarri, Hampstead, Juliet E, Vermeulen, Emma, Oorsprong, Michiel, Hofste, Tom, Simons, Michiel, Nagtegaal, Iris D, Hoogerbrugge, Nicoline, Voer, Richarda M de, Ligtenberg, Marjolijn J L

Source: JNCI: Journal of the National Cancer Institute; Dec2024, Vol. 116 Issue 12, p1904-1913, 10p

Subject Terms: HOMOLOGOUS recombination, WHOLE genome sequencing, BRCA genes, GENOMICS, NUCLEOTIDE sequencing

Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study.

Authors: Schei‐Andersen, Ane J., Hendricks, Linda A. J., van der Post, Rachel S., Mensenkamp, Arjen R., Schieving, Jolanda, Adank, Muriel A., Duijkers, Floor, de Jong, Mirjam, Jongemans, Marjolijn C. J., van Hest, Liselotte P., van Ierland, Yvette, Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Schuurs‐Hoeijmakers, Janneke H. M., Hoogerbrugge, Nicoline, Vos, Janet R.

Source: International Journal of Cancer; Nov2024, Vol. 155 Issue 9, p1567-1576, 10p

Subject Terms: HEREDITARY cancer syndromes, DISEASE risk factors, AGE of onset, BENIGN tumors, HUMAN genetics

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Authors: Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Antoniou, Antonis C.

Source: In Genetics in Medicine October 2020 22(10):1653-1666

Evaluation of yield and experiences of age‐related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome

Authors: Vos, Janet R., Fakkert, Ingrid E., Spruijt, Liesbeth, Willems, Riki W., Langenveld, Sera, Mensenkamp, Arjen R., Leter, Edward M., Nagtegaal, Iris D., Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline

Source: International journal of cancer. 147(8):2150-2158

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108083763.0x000001&indx=1&recIds=ETOCvdc_100108083763.0x000001

Germline variant affecting p53β isoforms predisposes to familial cancer.

Authors: Schubert, Stephanie A., Ruano, Dina, Joruiz, Sebastien M., Stroosma, Jordy, Glavak, Nikolina, Montali, Anna, Pinto, Lia M., Rodríguez-Girondo, Mar, Barge-Schaapveld, Daniela Q. C. M., Nielsen, Maartje, van Nesselrooij, Bernadette P. M., Mensenkamp, Arjen R., van Leerdam, Monique E., Sharp, Thomas H., Morreau, Hans, Bourdon, Jean-Christophe, de Miranda, Noel F. C. C., van Wezel, Tom

Source: Nature Communications; 9/18/2024, Vol. 15 Issue 1, p1-15, 15p

Subject Terms: GENETIC variation, FUNCTIONAL genomics, LI-Fraumeni syndrome, MOLECULAR diagnosis, THYROID cancer

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Authors: Hinić, Snežana, Post, Rachel S van der, Vreede, Lilian, Schuurs-Hoeijmakers, Janneke, Koene, Saskia, Jansen, Erik A M, Bervoets-Metge, Franziska, Mensenkamp, Arjen R, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L, Voer, Richarda M de

Source: JNCI Cancer Spectrum; Aug2024, Vol. 8 Issue 4, p1-5, 5p

Subject Terms: CHECKPOINT kinase 2, BREAST cancer, HOMOLOGOUS recombination, GERM cells, BRCA genes

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

Authors: Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Bodek, Simon, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Harraka, Philip, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lippey, Jocelyn, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Ragunathan, Abi, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Savas, Peter, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shaw, Joanne, Shelling, Andrew, Srinivasa, Shweta, Simpson, Peter, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, González-Neira, Anna, Grassmann, Felix, Gronwald, Jacek, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hartman, Mikael, Ho, Peh Joo, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Joanna, Lindblom, Annika, Liu, Jenny, Lophatananon, Artitaya, Mannermaa, Arto, Mavroudis, Dimitrios A., Mensenkamp, Arjen R., Milne, Roger L., Muir, Kenneth R., Newman, William G., Obi, Nadia, Panayiotidis, Mihalis I., Park, Sue K., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Marjanka K., Seibold, Petra, Shah, Mitul, Southey, Melissa C., Teo, Soo Hwang, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van de Beek, Irma, van der Hout, Annemieke H., Wendt, Camilla C., Dunning, Alison M., Pharoah, Paul D.P., Devilee, Peter, Easton, Douglas F., James, Paul A., Spurdle, Amanda B.

Source: In The American Journal of Human Genetics 5 September 2024 111(9):2059-2069

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Authors: Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., Vos, Janet R.

Source: European journal of medical genetics. 65(12)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179177097.0x000001&indx=1&recIds=ETOCvdc_100179177097.0x000001