The Risks of Breast and Ovarian Cancer Associated with the Ashkenazi Jewish Founder Allele BRCA2 6174delT

2021 ◽  
Author(s):  
Amy Finch ◽  
Kelly Metcalfe ◽  
Mohammad Akbari ◽  
Eitan Friedman ◽  
Nadine Tung ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Ashkenazi Jewish ◽  
Breast And Ovarian Cancer ◽  
Founder Allele

Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center

Cancer ◽  
2018 ◽  
Vol 125 (5) ◽  
pp. 690-697 ◽  
Author(s):  
Melissa K. Frey ◽  
Rohini V. Kopparam ◽  
Zhen Ni Zhou ◽  
Jessica C. Fields ◽  
Ama Buskwofie ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Center ◽  
Ashkenazi Jewish ◽  
Breast And Ovarian Cancer

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

2000 ◽  
Vol 16 (6) ◽  
pp. 491-501 ◽  
Author(s):  
Ronit Shiri-Sverdlov ◽  
Peter Oefner ◽  
Limor Green ◽  
Ruth Gershoni Baruch ◽  
Teresa Wagner ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Ashkenazi Jewish ◽  
Jewish Women ◽  
Breast And Ovarian Cancer

BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Families with Breast and Ovarian Cancer

1997 ◽  
Vol 1 (1) ◽  
pp. 41-46 ◽  
Author(s):  
ELIZABETH L. SCHUBERT ◽  
HEATHER C. MEFFORD ◽  
JAMIE L. DANN ◽  
RHODORA H. ARGONZA ◽  
JUDY HULL ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Ashkenazi Jewish ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
Jewish Families

Genome sequencing of multiple primary tumors to reveal underlying germline cancer susceptibility.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1552-1552
Author(s):  
Kasmintan A. Schrader ◽  
Kelly Lynn Stratton ◽  
Rajmohan Murali ◽  
Yael Laitman ◽  
Luca Cavallone ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genome Sequencing ◽  
Founder Mutation ◽  
Ashkenazi Jewish ◽  
Breast And Ovarian Cancer ◽  
Primary Tumors ◽  
Structural Variant ◽  
Multiple Primary ◽  
Copy Number Assay ◽  
History Of

1552 Background: Apart from germline mutations in BRCA1 and BRCA2, the basis for genetic susceptibility to breast and ovarian cancer is heterogeneous, and can necessitate sequential or multiplex genetic testing. In addition, examination of germline DNA alone may not be conclusive. Information regarding both primary and secondary genetic events can be obtained from genomic analysis of tumors in conjunction with germline DNA. Methods: To determine the underlying cause of multiple primary malignancies in an Ashkenazi Jewish individual, whole genome sequencing was performed on DNA from the patient’s germline, invasive ductal carcinoma of the breast, and ovarian high-grade serous carcinoma. After identifying a structural variant of interest in this patient, germline DNA of 1846 Ashkenazi Jewish individuals who had a personal history of either breast, pancreatic, or ovarian cancer or a history of both breast and/or ovarian cancer and a similar family history, were screened using a TaqMan copy number assay or a specific PCR breakpoint assay to determine if this structural variant is a founder mutation. Results: A novel germline complex structural variant of PALB2 creating a 3790 base-pair deletion encompassing exon 11 associated with a 68 base-pair insertion was identified and confirmed by Sanger sequencing and a TaqMan copy number assay. The germline deletion was retained in both tumors. In addition, both tumors acquired second hits that led to inactivation of the wild-type allele of PALB2. The germline PALB2 structural variant was not identified in any of the additional 1846 Ashkenazi Jewish individuals genotyped. Conclusions: Whole genome sequencing of multiple primary tumors enabled identification and characterization of a novel germline structural variant in PALB2 as the basis for the individual’s susceptibility to breast and ovarian cancer. The variant does not appear to be a founder mutation in Ashkenazim.

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