Table 2 Clinical characteristics of germline RAD51B pathogenic variant carriers in MSK cohort.
ID | Sex | Tumor type | RAD51B variant | RAD51B mutation type | Mean allele frequency (MAF) in gnomAD | Ethnicity-specific MAF in gnomAD | Age | Hormone receptor status | 1st or 2nd degree relative with breast or ovarian cancer | Ethnicity | Notes |
|---|---|---|---|---|---|---|---|---|---|---|---|
MSK_01 | Female | Breast Invasive Ductal Carcinoma | c.85-1 G > C | Essential splice site SNV | 1/246274 (0.0004) | 0/33148 (0%) | 61 | ER+, PR+, HER2− | Yes, breast cancer | Hispanic/Latino | Bilateral breast cancer |
MSK_02 | Female | Breast Invasive Ductal Carcinoma | c.1036 + 2 T > C | Essential splice site SNV | Absent | Absent | 41 | ER+, PR+, HER2− | No | Turkish | Multifocal breast cancer |
MSK_03 | Female | High-Grade Serous Ovarian Cancer | c.37 C > T(p.Gln13*) | Truncating SNV | 2/251326 (0.0008%) | 2/30586 (0.007%) | 64 | NP | Yes, breast cancer | Hispanic/Latino | Synchronous endometrial cancer |
MSK_04 | Male | Unclassified Renal Cell Carcinoma | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 12/129140 (0.009%) | 51 | NP | No | Caucasian | Synchronous prostate cancer |
MSK_05 | Male | High-Grade Neuroendocrine Carcinoma of the Colon/Rectum | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 2/35374 (0.006%) | 44 | NP | No | Hispanic/Latino | |
MSK_06 | Male | Adenocarcinoma of the Gastroesophageal Junction | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 2/35374 (0.006%) | 31 | NP | Yes, breast and ovarian cancer | Hispanic/Latino | |
MSK_07 | Female | High-Grade Serous Ovarian Cancer | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 12/129140 (0.009%) | 58 | NP | Yes, breast cancer | Caucasian | |
MSK_08 | Female | High-Grade Serous Ovarian Cancer | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 12/129140 (0.009%) | 68 | NP | Yes, breast cancer | Caucasian | |
MSK_09 | Female | Breast Invasive Ductal Carcinoma | c.204 T > A(p.Tyr68*) | Truncating SNV | Absent | Absent | 48 | ER−, PR−, HER2+ | Yes, breast cancer | Hispanic/Latino | |
MSK_10 | Female | Breast Invasive Ductal Carcinoma | c.952 A > T(p.Arg318*) | Truncating SNV | 1/31408 (0.003%) | 1/15434 (0.006%) | 30 | ER+, PR+, HER2− | No | Caucasian | Also a BLM p.Ser595* carrier |
MSK_11 | Female | Breast Invasive Ductal Carcinoma | c.85-2delA | Essential splice site Indel | Absent | Absent | 43 | ER+, PR+, HER2− | No | Turkish | |
MSK_12 | Female | High-Grade Serous Ovarian Cancer | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 2/35374 (0.006%) | 79 | NP | Yes, breast cancer | Hispanic/Latino | |
MSK_13 | Female | Melanoma | NM_002877.6(RAD51B): c.139 C > T(p.Arg47*) | Truncating SNV | 38/282688 (0.01%) | 12/129140 (0.009%) | 67 | NP | Yes, breast cancer | Caucasian |
