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Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 211, doi. 10.1007/s10689-020-00175-4
By:
- Laner, A.;
- Benet-Pages, A.;
- Neitzel, B.;
- Holinski-Feder, E.
Publication type:
Article
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 269, doi. 10.1007/s10689-020-00174-5
By:
- Mauer, Caitlin B.;
- Reys, Brian;
- Wickiser, Jonathan
Publication type:
Article
Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 259, doi. 10.1007/s10689-020-00173-6
By:
- Werner-Lin, Allison;
- Young, Jennifer L.;
- Wilsnack, Catherine;
- Merrill, Shana L.;
- Groner, Victoria;
- Greene, Mark H.;
- Khincha, Payal P.
Publication type:
Article
Genetic health professionals' experiences with initiating reanalysis of genomic sequence data.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 273, doi. 10.1007/s10689-020-00172-7
By:
- Vears, Danya F.;
- Sénécal, Karine;
- Borry, Pascal
Publication type:
Article
Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 247, doi. 10.1007/s10689-020-00171-8
By:
- Overbeek, Kasper A.;
- Cahen, Djuna L.;
- Kamps, Anne;
- Konings, Ingrid C. A. W.;
- Harinck, Femme;
- Kuenen, Marianne A.;
- Koerkamp, Bas Groot;
- Besselink, Marc G.;
- van Eijck, Casper H.;
- Wagner, Anja;
- Ausems, Margreet G. E.;
- van der Vlugt, Manon;
- Fockens, Paul;
- Vleggaar, Frank P.;
- Poley, Jan-Werner;
- van Hooft, Jeanin E.;
- Bleiker, Eveline M. A.;
- Bruno, Marco J.;
- the Dutch Familial Pancreatic Cancer Surveillance Study Group;
- Bruno, M. J.
Publication type:
Article
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 223, doi. 10.1007/s10689-020-00170-9
By:
- Heald, Brandie;
- Hampel, Heather;
- Church, James;
- Dudley, Beth;
- Hall, Michael J.;
- Mork, Maureen E.;
- Singh, Aparajita;
- Stoffel, Elena;
- Stoll, Jessica;
- You, Y. Nancy;
- Yurgelun, Matthew B.;
- Kupfer, Sonia S.
Publication type:
Article
Lack of evidence for CDK12 as an ovarian cancer predisposing gene.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 203, doi. 10.1007/s10689-020-00169-2
By:
- Eeckhoutte, Alexandre;
- Saint-Ghislain, Mathilde;
- Reverdy, Manon;
- Raynal, Virginie;
- Baulande, Sylvain;
- Bataillon, Guillaume;
- Golmard, Lisa;
- Stoppa-Lyonnet, Dominique;
- Popova, Tatiana;
- Houdayer, Claude;
- Manié, Elodie;
- Stern, Marc-Henri
Publication type:
Article
Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 215, doi. 10.1007/s10689-020-00167-4
By:
- Gemechu, Shimelis Dejene;
- van Vliet, Christine M.;
- Win, Aung Ko;
- Figueiredo, Jane C.;
- Le Marchand, Loic;
- Gallinger, Steven;
- Newcomb, Polly A.;
- Hopper, John L.;
- Lindor, Noralane M.;
- Jenkins, Mark A.;
- Dowty, James G.
Publication type:
Article
Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 241, doi. 10.1007/s10689-020-00165-6
By:
- Viakhireva, I.;
- Musatova, E.;
- Bessonova, L.;
- Shcherbatyuk, Y.;
- Korobkov, S.;
- Zhikriveckaya, S.;
- Sofronova, Ya.;
- Mironova, I.;
- Khmelkova, D.;
- Konovalov, F.;
- Baranova, A.;
- Pomerantseva, E.;
- Skoblov, M.
Publication type:
Article
Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 197, doi. 10.1007/s10689-020-00164-7
By:
- Nguyen-Dumont, Tu;
- Steen, Jason A.;
- Winship, Ingrid;
- Park, Daniel J.;
- Pope, Bernard J.;
- Hammet, Fleur;
- Mahmoodi, Maryam;
- Tsimiklis, Helen;
- Theys, Derrick;
- Clendenning, Mark;
- Giles, Graham G.;
- Hopper, John L.;
- Southey, Melissa C.
Publication type:
Article

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