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10.1016/j.gim.2025.101521 http://scihub22266oqcxt.onion/10.1016/j.gim.2025.101521 40642874!ä!40642874 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\40642874.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Genet+Med 2025 ; ä (ä): 101521 Nephropedia Template TP {{tp|p=40642874|t=2025. Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility and gonadal failure |pdf=|usr=}}{{40642874}} gab.com Text Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility and gonadal failure JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=40642874 #FOAvip PURPOSE: Heterozygous FANCM variants have been associated with breast cancer (BC). Only a few studies have examined other cancer types. Biallelic truncating variants have been linked to a Fanconi anemia (FA)-like cancer prone syndrome in case reports, but the range of cancers and the risk estimates are lacking. METHODS: We studied the association of Finnish-enriched variants c.5101C>T p.(Gln1701Ter) and c.5791C>T p.(Arg1931Ter) with risk of any cancer and FA-related conditions in the FinnGen data with 500,348 individuals. RESULTS: Heterozygous c.5101C>T (N=10,940) was associated with an increased risk of BC (OR = 1.24, P = 2.7x10(-6)) but also with risks of other cancer types including hypopharyngeal (OR = 3.98, P = 3.6x10(-7)), suggesting a risk effect wider than previously described. Homozygous c.5101C>T (N=76) was associated with a high risk of breast, head and neck, gastrointestinal, gynecological, hematologic, skin, and lung cancer, whereas c.5791C>T was rare. Additionally, high recessive risks of ovarian dysfunction and hematologic side effects after cancer treatment were detected, but no risks of bone marrow failure or physical features of FA. CONCLUSION: Based on the pattern of risks associated with biallelic variants, we suggest a novel FANCM cancer syndrome that is separate from FA and other characterized cancer susceptibility syndromes. Twit Text FOAVip Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility and gonadal failure ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=40642874 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=40642874 #FOAvip English Wikipedia <ref>{{Cite pmid|40642874}}</ref> Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility and gonadal failure #MMPMID40642874 Nynas E; Sulkava S; Nurmi AK; Suvanto M; Aittomaki K; Nevanlinna H Genet Med 2025[Jul]; ä (ä): 101521 PMID40642874show ga PURPOSE: Heterozygous FANCM variants have been associated with breast cancer (BC). Only a few studies have examined other cancer types. Biallelic truncating variants have been linked to a Fanconi anemia (FA)-like cancer prone syndrome in case reports, but the range of cancers and the risk estimates are lacking. METHODS: We studied the association of Finnish-enriched variants c.5101C>T p.(Gln1701Ter) and c.5791C>T p.(Arg1931Ter) with risk of any cancer and FA-related conditions in the FinnGen data with 500,348 individuals. RESULTS: Heterozygous c.5101C>T (N=10,940) was associated with an increased risk of BC (OR = 1.24, P = 2.7x10(-6)) but also with risks of other cancer types including hypopharyngeal (OR = 3.98, P = 3.6x10(-7)), suggesting a risk effect wider than previously described. Homozygous c.5101C>T (N=76) was associated with a high risk of breast, head and neck, gastrointestinal, gynecological, hematologic, skin, and lung cancer, whereas c.5791C>T was rare. Additionally, high recessive risks of ovarian dysfunction and hematologic side effects after cancer treatment were detected, but no risks of bone marrow failure or physical features of FA. CONCLUSION: Based on the pattern of risks associated with biallelic variants, we suggest a novel FANCM cancer syndrome that is separate from FA and other characterized cancer susceptibility syndromes. äRecessive FANCM cancer syndrome with high cancer risks, chemotherapy t(epmc).pdf DeepDyve Pubget Overpricing