Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations

International Journal of Cancer. Journal International Du Cancer
K K OrosP Tonin

Abstract

In 1998, we reported that a significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor specific germline mutations in BRCA1 or BRCA2 attributed to common founders. Here we report the frequency of previously described mutations (n = 7) and 13 mutations identified in French Canadian families since 1998, in a new group of families (n = 88). Four of the previously described mutations, 4446C>T, 2953delGTAinsC, 8765delAG and 6085C>T, account for 72% and 69% of mutation-positive families in previously (n = 81) and recently ascertained groups, respectively. Only 2 of 13 recently identified mutations were found in more than 1 family: 3875delGTCT (n = 2) and 3398delAAAAG (n = 4). The 2 groups (ascertained pre- and post-gene discovery) did not differ significantly when distribution of mutations based on cancer syndrome phenotype and age of diagnosis or number of breast cancer cases were compared. Five common mutations accounted for a significant proportion (84%) of all mutation-positive families. The age of diagnosis of female breast cancer in mutation-negative families was significantly higher than that of the mutation-positive families (p<0.0001). The total number of cases of cancer per family was ...Continue Reading

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Citations

Jun 2, 2007·Breast Cancer Research and Treatment·Suzanna L ArcandPatricia N Tonin
Oct 21, 2009·Current Opinion in Obstetrics & Gynecology·Allison W Kurian
Aug 31, 2012·BMC Cancer·Isabelle J LétourneauAnne-Marie Mes-Masson
May 30, 2008·BMC Cancer·Véronique OuelletAnne-Marie Mes-Masson
Jan 19, 2006·Breast Cancer Research : BCR·Antonis C AntoniouUNKNOWN INHERIT BRCAs program members
Apr 11, 2007·Proceedings of the National Academy of Sciences of the United States of America·Marc TischkowitzWilliam D Foulkes
Dec 6, 2008·Surgical Oncology Clinics of North America·Victoria Sahadevan FosslandScott H Kurtzman
May 1, 2015·BMC Medical Genetics·Suzanna L ArcandPatricia N Tonin
Mar 27, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Amanda LambSusan Miesfeldt
Sep 15, 2020·JCO Precision Oncology·Lisa EsterlingTheodora S Ross

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